MITTELDEUTSCHES KOMPETENZNETZ SELTENE ERKRANKUNGEN

Prof. Dr. med. Klaus Mohnike

Leiter des MKSE
Universitätskinderklinik, UMMD

Prof. Dr. med. Klaus Mohnike

Forschungsprofil
pädiatrische Endokrinologie, Skelettdysplasien, angeborene Stoffwechselerkrankungen
Publikationen

2023

Abstract

Verado, Angela; Semler, Jörg Oliver; Cormier-Daire, Valerie; Lausch, Ekkehart; Bober, Michael B.; Carroll, Ricki; Sousa, Sérgio B.; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron; Legare, Janet; Mohnike, Klaus; Rohrer, Tilman; Rutsch, Frank; Smith, Pamela; Travessa, Andre; White, Klane K.; Wilcox, William W.; Hoover-Fong, Julie

Vosoritide therapy in patients with achondroplasia - early experience and practical considerations for clinical practice
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 3, S. 153-154, Artikel 6240

Abstract

Zurita, Ana Luisa Priego; Cherenko, Mariya; Alves, Inês; Boarini, Manila; Oberste-Berghaus, Corinna; Högler, Wolfgang; Javaid, M. Kassim; Linglart, Agnès; Mohnike, Klaus; Mordenti, Marina; Rooij, Tess M.; Roos, Marco; Sangiorgi, Luca; Skarberg, Rebecca; Soucek, Ondrej; Ahmed, S. Faisal; Appelman-Dijkstra, Natasha M.

The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) - collecting core data elements and clinician and patient-reported outcomes
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 171-172, Artikel P1-411

Abstract

Kunkel, Philip Oskar Sean; Halak, Maesa Al; Bechthold-Dalla Pozza, Susanne; Oberste-Berghaus, Corinna; Keller, Alexandra; Muschol, Nadine; Nader, Sean; Palm, Katja; Pötzsch, Simone; Rohrer, Tilman; Rutsch, Frank; Schnabel, Dirk; Voelkl, Thomas; Vogt, Björn; Wechsung, Katja; Weigel, Johannes; Wölfle, Joachim; Pfäffle, Roland; Gausche, Ruth; Beger, Christoph; Mohnike, Klaus

Multidisciplinary approach in achondroplasia - real world experience after drug approval of vosoritide
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 173, Artikel P1-414

Abstract

Meißner, Thomas; León, Diva D.; Thornton, Paul; Zangen, David; Mohnike, Klaus; Andersen, Marie; Bøge, Eva; Birch, Sune; Ivkovic, Jelena; Banerjee, Indi

Dasiglucagon safety in paediatric participants with CHI
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 59-60, Artikel FC10.1

Abstract

Hoyer-Kuhn, Heike-Katharina; Eckert, Alexander; Binder, Gerhard; Bonfig, Walter; Dübbers, Angelika; Mohnike, Klaus; Riedl, Stefan; Wölfle, Joachim; Dörr, Helmuth-Günther; Holl, Reinhard W.

Impact of newborn screening for Congenital Adrenal Hyperplasia (CAH) on adult height - data from the CAH Registry of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED)
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 151, Artikel P1-401

Abstract

Polgreen, Lynda E.; Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William W.; Bacino, Carlos A.; Hoover-Fong, Julie; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kagami, Shoji; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-González, Felipe; Mochizuki, Hiroshi Mochizuki; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Lawrinson, Sue; Day, Jonathan

Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years - update from Phase 3 extension study
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 3, S. 149-151, Artikel 6229

Begutachteter Zeitschriftenartikel

Zenker, Martin; Mohnike, Klaus; Palm, Katja

Syndromic forms of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 14 (2023), Artikel 1013874, insges. 19 S.

Begutachteter Zeitschriftenartikel

Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Geneviève; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; Fredwall, Svein O.; Guillen-Navarro, Encarna; Hoyer-Kuhn, Heike-Katharina; Kunkel, Philip Oskar Sean; Lampe, Christian Gerhard; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sérgio B.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 18 (2023), S. 1-8, Artikel 219, insges. 8 S.

Begutachteter Zeitschriftenartikel

Alanay, Yasemin; Mohnike, Klaus; Nilsson, Ola; Alves, Inês; AlSayed, Moeenaldeen; Appelman-Dijkstra, Natasha M.; Baujat, Genevieve; Ben-Omran, Tawfeg; Breyer, Sandra Rafaela; Cormier-Daire, Valerie; Gregersen, Pernille Axél; Guillén-Navarro, Encarna; Högler, Wolfgang; Maghnie, Mohamad; Mukherjee, Swati;; Cohen, Shelda; Pimenta, Jeanne M.; Selicorni, Angelo; Semler, Jörg Oliver; Sigaudy, Sabine; Popkov, Dmitry; Sabir, Ian; Noval, Susana; Sessa, Marco; Irving, Melita

Real-world evidence in achondroplasia - considerations for a standardized data set
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 18 (2023), Artikel 166, insges. 9 S.

Begutachteter Zeitschriftenartikel

Banerjee, Indraneel; Mohnike, Klaus

Editorial - the problem of childhood hypoglycaemia
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 14 (2023), Artikel 1211933, insges. 3 S.

Begutachteter Zeitschriftenartikel

NiMhurchadha, Sinead; Butler, Karen; Argent, Rob; Palm, Katja; Baujat, Genevieve; Cormier-Daire, Valerie; Mohnike, Klaus

Parents' experience of administering vosoritide - a daily injectable for children with achondroplasia
In: Advances in therapy - Tarporley : Springer Healthcare Communications, Bd. 40 (2023), Heft 5, S. 2457-2470

Begutachteter Zeitschriftenartikel

Maghnie, Mohamad; Semler, Jörg Oliver; Guillen-Navarro, Encarna; Selicorni, Angelo; Heath, Karen E.; Haeusler, Gabriele; Hagenäs, Lars; Merker, Andrea; Leiva-Gea, Antonio; González, Vanesa López; Raimann, Adalbert; Rehberg, Mirko; Santos-Simarro, Fernando; Ertl, Diana-Alexandra; Gregersen, Pernille Axél; Onesimo, Roberta; Landfeldt, Erik; Jarrett, James; Quinn, Jennifer; Rowell, Richard; Pimenta, Jeanne M.; Cohen, Shelda; Butt, Thomas; Shediac, Renée; Mukherjee, Swati;; Mohnike, Klaus

Lifetime impact of achondroplasia study in Europe (LIAISE) - findings from a multinational observational study
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 18 (2023), Artikel 56, insges. 19 S.

2022

Abstract

Shin, Wonjung; Park, Munyoung; Arbelaez, Ana Maria; Banerjee, Indi; Dastamani, Antonia; Mohnike, Klaus; Okawa, Erin; Cho, Hyungjin; De León, Diva D.

An ongoing phase 2 study of HM15136, a novel long-acting glucagon analogue, in subjects with congenital hyperinsulinism (ACHIEVE)
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 95 (2022), Suppl. 1, S. 100-101

Abstract

Zurita, Ana Luisa Priego; Bryce, Jillian; Alves, Inês; Boarini, Manila; Oberste-Berghaus, Corinna; Högler, Wolfgang; Javaid, M. Kassim; Linglart, Agnès; Mohnike, Klaus; Mordenti, Marina; Mortier, Geert; Roos, Marco; Sangiorgi, Luca; Skarberg, Rebecca; Soucek, Ondrej; Ahmed, S. Faisal; Appelman-Dijkstra, Natasha M.

The European registries for rare bone and mineral conditions - registering new cases of paediatric rare bone and mineral conditions using an electronic reporting tool
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 95 (2022), Suppl. 2, S. 68-69

Abstract

Irving, Melita; Hoover-Fong, Julie; Bacino, Carlos A.; Charrow, Joel; Cormier-Daire, Valérie; Polgreen, Lynda E.; Harmatz, Paul; Dickson, Patricia; Bober, Michael B.; Mohnike, Klaus; Wilcox, William; Labed, Alice Huntsman; Lawrinson, Sue; Fisheleva, Elena; Jeha, George; Day, Jonathan; Phillips, John; Savarirayan, Ravi

Vosoritide for children with achondroplasia - growth velocity and pubertal milestones
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 24 (2022), Heft 3, Supplement, S. S352-S353, Artikel OP021

Abstract

Tseretopoulou, Xanthippi; Ali, Salma R.; Bryce, Jillian; Navoda, Atapattu; Birkebaek, Niels H.; Baronio, Federico; Bonfig, Walter; Claahsen-van der Grinten, Hedi L.; Cools, Martine; Darendeliler, Feyza; Poyrazoglu, Sukran; Sanctis, Luisa; Elsedfy, Heba; Finken, Martijn J. J.; Flück, Christa E.; Gevers, Evelien; Korbonits, Márta; Guran, Tulay; Guven, Ayla; Hughes, Ieuan A.; Tadokoro-Cuccaro, Rieko; Thankamony, Ajay; Iotova, Violeta; Krone, Ruth; Lichiardopol, Corina; Mendonca, Berenice B.; Bachega, Tania A. S. S.; Miranda, Mirela C.; Milenkovic, Tatjana; Mohnike, Klaus; Nordenstrom, Anna; Kamp, Hendrike Jacoba; Ahmed, Syed Faisal

An international study of the association between local health care resources and acute adrenal insufficiency events in children with congenital adrenal hyperplasia
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 95 (2022), Suppl. 2, S. 401-402

Buchbeitrag

Empting, Susann; Mohnike, Klaus; Palm, Katja

Historie der X-chromosomalen Hypophosphatämie (XLH)
In: X-chromosomale Hypophosphatämie - Phosphatdiabetes - XLH/ Schnabel - Bremen: UNI-MED; Schnabel, Dirk . - 2022, S. 14-17

Begutachteter Zeitschriftenartikel

Savarirayan, Ravi; Ireland, Penny; Irving, Melita; Thompson, Dominic; Alves, Inês; Baratela, Wagner A. R.; Betts, James; Bober, Michael B.; Boero, Silvio; Briddell, Jenna; Campbell, Jeffrey; Campeau, Philippe M.; Carl-Innig, Patricia; Cheung, Moira S.; Cobourne, Martyn T.; Cormier-Daire, Valérie; Deladure-Molla, Muriel; Pino, Mariana; Elphick, Heather; Fano, Virginia; Fauroux, Brigitte; Gibbins, Jonathan; Groves, Mari L.; Hagenäs, Lars; Hannon, Therese; Hoover-Fong, Julie; Kaisermann, Morrys; Leiva-Gea, Antonio; Llerena, Juan; Mackenzie, William; Martin, Kenneth W.; Mazzoleni, Fabio; McDonnell, Sharon; Meazzini, Maria Costanza; Milerad, Josef; Mohnike, Klaus; Mortier, Geert R.; Offiah, Amaka C.; Ozono, Keiichi; Phillips III, John A.; Powell, Steven; Prasad, Yosha; Raggio, Cathleen; Rosselli, Pablo; Rossiter, Judith; Selicorni, Angelo; Sessa, Marco; Theroux, Mary; Thomas, Matthew; Trespedi, Laura; Tunkel, David; Wallis, Colin; Wright, Michael; Yasui, Natsuo; Fredwall, Svein Otto

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
In: Nature reviews / Endocrinology - London [u.a.] : Nature Publ. Group, Bd. 18 (2022), Heft 3, S. 173-189

Begutachteter Zeitschriftenartikel

Schuart, Claudia; Bassi, Andrea; Kapp, Friedrich; Wieland, Ilse; Pagliazzi, Angelica; Losch, Heike; Mazzatenta, Carlo; Bacci, Giacomo M.; Oranges, Teresa; Schanze, Denny; Mohnike, Klaus; Nanda, Arti; Fischer, Judith; Zenker, Martin; Happle, Rudolf

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), Heft 5, S. 1-6, Artikel 104472

Begutachteter Zeitschriftenartikel

Liebers-Kyungay, Ann-Christin; Mohnike, Klaus; Lingen, Corine; Bressan, Anita; Bellettato, Cinzia; Scarpa, Maurizio; Palm, Katja; Ziagaki, Athanasia

Methodology for generating standardized datasets with characteristic diagnostic parameters of rare diseases in form of HPO-terms
In: Diagnostic Pathology - Los Angeles, CA : Omics international, Bd. 7 (2022), Heft S11, Artikel 1000002, insges. 6 S.

Begutachteter Zeitschriftenartikel

Chan, Ming Liang; Qi, Yulan; Larimore, Kevin; Cherukuri, Anu; Seid, Lori; Jayaram, Kala; Jeha, George; Fisheleva, Elena; Day, Jonathan; Huntsman-Labed, Alice; Savarirayan, Ravi; Irving, Melita; Bacino, Carlos A.; Hoover-Fong, Julie; Ozono, Keiichi; Mohnike, Klaus; Wilcox, William R.; Horton, William A.; Henshaw, Joshua

Pharmacokinetics and exposure-response of vosoritide in children with achondroplasia
In: Clinical pharmacokinetics - Berlin [u.a.] : Springer, Bd. 61 (2022), Heft 2, S. 263-280

Begutachteter Zeitschriftenartikel

Savarirayan, Ravi; Irving, Melita; Harmatz, Paul; Delgado, Borja; Wilcox, William R.; Philips, John; Owen, Natalie; Bacino, Carlos A.; Tofts, Louise; Charrow, Joel; Polgreen, Lynda E.; Hoover-Fong, Julie; Arundel, Paul; Ginebreda, Ignacio; Saal, Howard M.; Basel, Donald; Font, Rosendo Ullot; Ozono, Keiichi; Bober, Michael B.; Cormier-Daire, Valérie; Sang, Kim-Hanh Le Quan; Baujat, Genevieve; Alanay, Yasemin; Rutsch, Frank; Hoernschemeyer, Daniel; Mohnike, Klaus; Mochizuki, Hiroshi; Tajima, Asako; Kotani, Yumiko; Weaver, David D.; White, Klane K.; Army, Clare; Larrimore, Kevin; Gregg, Keith; Jeha, George; Milligan, Claire; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan

Growth parameters in children with achondroplasia - a 7-year, prospective, multinational, observational study
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 24 (2022), Heft 12, S. 2444-2452

Begutachteter Zeitschriftenartikel

Wieland, Ilse; Schanze, Ina; Felgendreher, Ina; Barthlen, Winfried; Vogelgesang, Silke; Mohnike, Klaus; Zenker, Martin

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.

Begutachteter Zeitschriftenartikel

Neumann, Uta; Linde, Annelieke; Krone, Ruth E.; Krone, Nils; Güven, Ayla; Güran, Tülay; Elsedfy, Heba; Poyrazoglu, Sukran; Darendeliler, Feyza; Bachega, Tania A. S. S.; Balsamo, Antonio; Hannema, Sabine E.; Birkebaek, Niels; Vieites, Ana; Thankamony, Ajay; Cools, Martine; Milenkovic, Tatjana; Bonfig, Walter; Costa, Eduardo Correa; Atapattu, Navoda; Vries, Liat; Guaragna-Filho, Guilherme; Korbonits, Márta; Mohnike, Klaus; Bryce, Jillian; Ahmed, S. Faisal; Voet, Bernard; Blankenstein, Oliver; Claahsen-van der Grinten, Hedi L.

Treatment of congenital adrenal hyperplasia in children aged 03 years - a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure
In: European journal of endocrinology - Bristol: BioScientifica Ltd., 1948, Bd. 186 (2022), 5, S. 587-596

Begutachteter Zeitschriftenartikel

Vossschulte, Hendrik; Mohnike, Konrad; Mohnike, Klaus; Warncke, Katharina; Akcay, Ayse; Zenker, Martin; Wieland, Ilse; Schanze, Ina; Höfele, Julia; Förster, Christine; Barthlen, Winfried; Stahlberg, Kim Laura; Empting, Susann

Correlation of PET-MRI, pathology, LOH, and surgical success in a case of CHI with atypical large pancreatic focus
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 6 (2022), 6, S. 1-8

Begutachteter Zeitschriftenartikel

Savarirayan, Ravi; Baratela, Wagner; Butt, Thomas; Cormier-Daire, Valérie; Irving, Melita; Miller, Bradley; Mohnike, Klaus; Ozono, Keiichi; Rosenfeld, Ron; Selicorni, Angelo; Thompson, Dominic; White, Klane K.; Wright, Michael; Fredwall, Svein O.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide - a modified Delphi study
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 17 (2022), Artikel 224, insges. 10 S.

Begutachteter Zeitschriftenartikel

Albada, Mirjam E.; Mohnike, Klaus; Dunne, Mark J.; Banerjee, Indi; Betz, Stephen F.

Somatostatin receptors in congenital hyperinsulinism - biology to bedside
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 7 S.

Begutachteter Zeitschriftenartikel

Fredwall, Svein O.; Allum, Yana; AlSayed, Moeenaldeen; Alves, Inês; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sérgio B.; Wright, Michael

Optimising care and follow-up of adults with achondroplasia
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 17 (2022), Artikel 318, insges. 10 S.

Begutachteter Zeitschriftenartikel

Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Inês; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein O.; Garel, Catherine; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sérgio B.; Mohnike, Klaus

Optimising the diagnosis and referral of achondroplasia in Europe - European Achondroplasia Forum best practice recommendations
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 17 (2022), Artikel 293, insges. 10 S.

Begutachteter Zeitschriftenartikel

Shediac, Renée; Moshkovich, Olga; Gerould, Heather; Ballinger, Rachel; Williams, Agnes; Bellenger, M. Alex; Quinn, Jennifer; Hoover-Fong, Julie; Mohnike, Klaus; Savarirayan, Ravi; Kelly, Dominique

Experiences of children and adolescents living with achondroplasia and their caregivers
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 10 (2022), 4, insges. 13 S.

Begutachteter Zeitschriftenartikel

Schmid, Ronald G.; Achenbach, Michael; Pape, Lars; Pies, Mechthild; Mohnike, Klaus; Stier, Bernhard; Trost-Brinkhues, Gabriele

Jugendmedizin in Deutschland - Bestandsaufnahme der Kommission Jugendmedizin der Deutschen Akademie für Kinder- und Jugendmedizin (DAKJ) : Kurzfassung - Adolescent medicine in Germany - inventory of the Committee on Adolescent Medicine of the German Academy for Pediatric and Adolescent Medicine (DAKJ)
In: Monatsschrift Kinderheilkunde - Berlin: Springer, Bd. 170 (2022), 1, S. 70-76

2021

Abstract

Irving, Melita; Savarirayan, Ravi; Arundel, Paul; Polgreen, Lynda E.; Mohnike, Klaus; Ozono, Keiichi; Saunders, Michael; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia
In: Hormone research in paediatrics - Basel : Karger, Bd. 94 (2021), Heft Suppl. 1, S. 321, Artikel P2-284

Abstract

Plachy, Lukas; Bryce, Jillian; Mohnike, Klaus; Gan, Hoong-Wei; Shaikh, Guftar; Rozenkova, Klara; Mozzillo, Enza; Maltoni, Giulio; Navardauskaite, Ruta; Casteels, Kristina; Stuart, Annemarie Verrijn; Dastamani, Antonia; Empting, Susann; Verkauskiene, Rasa; Ahmed, S. Faisal; Sumnik, Zdenek

Clinical characteristics of children with Congenital hyperinsulinsm - results from the European Registries for Rare Endocrine Conditions (EuRRECa) project
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 94 (2021), Suppl. 1, S. 104

Abstract

Maghnie, Mohamad; Semler, Jörg Oliver; Guillen-Navarro, Encarna; Wiesel, Awi; Allegri, Anna Elsa Maria; Selicorni, Angelo; Lopez, Antonio Gonzalez-Meneses; Heath, Karen; Zampino, Giuseppe; Haeusler, Gabriele; Hagenäs, Lars; Leiva-Gea, Antonio; González, Vanesa López; Raimann, Adalbert; Simarro, Fernando Santos; Tajè, Silvia; Ertl, Diana-Alexandra; Gregersen, Pernille Axél; Pimenta, Jeanne M.; Cohen, Shelda; Jarrett, James; Rowell, Richard; Shediac, Renée; Mukherjee, Swati; Mohnike, Klaus

Lifetime impact of achondroplasia in Europe (LIAISE) - findings from a multinational observational study
In: Molecular genetics and metabolism - Orlando, Fla.: Academic Press, 1998, Bd. 132 (2021), Supplement 1, S. S65-S66

Abstract

Maghnie, Mohamad; Semler, Jörg Oliver; Guillen-Navarro, Encarna; Wiesel, Awi; Allegri, Anna Elsa Maria; Selicorni, Angelo; Lopez, Antonio Gonzalez-Meneses; Heath, Karen; Zampino, Giuseppe; Haeusler, Gabriele; Hagenäs, Lars; Leiva-Gea, Antonio; González, Vanesa López; Raimann, Adalbert; Simarro, Fernando Santos; Tajè, Silvia; Ertl, Diana-Alexandra; Gregersen, Pernille Axél; Landfeldt, Erik; Causin, Luiz; Jarrett, James; Quinn, Jennifer; Shediac, Renée; Mukherjee, Swati; Mohnike, Klaus

Health-related quality of life (HRQoL) in achondroplasia - findings from a multinational, observational study
In: Molecular genetics and metabolism - Orlando, Fla.: Academic Press, 1998, Bd. 132 (2021), Supplement 1, S. S127-S128

Buchbeitrag

Mohnike, Klaus

Hypoglykämie
In: Differenzialdiagnose Pädiatrie - München: Elsevier; Michalk, Dietrich *1944-* . - 2021, S. 605-610

Begutachteter Zeitschriftenartikel

Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Sousa, Sérgio Bernardo; Boero, Silvio; Fredwall, Svein O.; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Peijin, Zagorka; Mohnike, Klaus

The first European consensus on principles of management for achondroplasia
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 16 (2021), Artikel 333, insges. 7 S.

Begutachteter Zeitschriftenartikel

Savarirayan, Ravi; Irving, Melita; Hoover-Fong, Julie; Bacino, Carlos A.; Ozono, Keiichi; Mohnike, Klaus; Cormier-Daire, Valerie; Leiva-Gea, Antonio; Alanay, Yasemin; Andrews, Mary; Crews, Chandler; Klafehn, Cristina; Jayaram, Kala; Jeha, George S.; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan

Vosoritide treatment accelerates bone growth in children with achondroplasia
In: Future Rare Diseases - London : Future Medicine, Bd. 1 (2021), Heft 3, Artikel FRD14, insges. 9 S.

Begutachteter Zeitschriftenartikel

Mohnike, Klaus; Palm, Katja; Richter-Unruh, Annette

Aktualisierte Handlungsempfehlung nach der Leitlinie Pubertas praecox
In: Monatsschrift Kinderheilkunde - Berlin: Springer, Bd. 169 (2021), 12, S. 1171-1173

Begutachteter Zeitschriftenartikel

Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kagami, Shoji; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-González, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan R. S.

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia - 2-year results from an open-label, phase 3 extension study
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 23 (2021), Heft 12, S. 2443-2447

Begutachteter Zeitschriftenartikel

Mooij, Christiaan F.; Tacke, Carline E.; Albada, Mirjam E.; Barthlen, Winfried; Bikker, Hendrika; Mohnike, Klaus; Oomen, Matthijs W. N.; Trotsenburg, A. S. Paul; Zwaveling-Soonawala, Nitash

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
In: Annals of Pediatric Endocrinology & Metabolism - Seoul: Soc., 2012, Bd. 26 (2021), 4, S. 278-283

Begutachteter Zeitschriftenartikel

Schulte am Esch, Jan; Krüger, Martin; Barthlen, Winfried; Förster, Christine; Mohnike, Konrad; Empting, Susann; Benhidjeb, Tahar; Vossschulte, Hendrik

Technical aspects of paediatric robotic pancreatic enucleation based on a case of an insulinoma
In: The international journal of medical robotics and computer assisted surgery - Chichester: Wiley, 2004, Bd. 17 (2021), 6, insges. 7 S.

Begutachteter Zeitschriftenartikel

Empting, Susann; Palm, Katja; Mohnike, Klaus

Kongenitaler Hyperinsulinismus - Ursachenforschung und Therapie
In: Pädiatrie - München: Springer Medizin, Urban u. Vogel, Bd. 33 (2021), 2, S. 40-44

Begutachteter Zeitschriftenartikel

Bacila, Irina; Freeman, Nicole; Daniel, Eleni; Sandrk, Marija; Bryce, Jillian; Ali, Salma Rashid; Abali, Zehra Yavas; Atapattu, Navoda; Bachega, Tania A.; Balsamo, Antonio; Birkebæk, Niels; Blankenstein, Oliver; Bonfig, Walter; Cools, Martine; Costa, Eduardo Correa; Darendeliler, Feyza; Einaudi, Silvia; Elsedfy, Heba Hassan; Finken, Martijn J. J.; Gevers, Evelien; Grinten, Hedi L. Claahsen; Guran, Tulay; Güven, Ayla; Hannema, Sabine E.; Higham, Claire E.; Iotova, Violeta; Kamp, Hendrike Jacoba; Korbonits, Márta; Krone, Ruth E.; Lichiardopol, Corina; Luczay, Andrea; Mendonca, Berenice Bilharino; Milenkovic, Tatjana; Miranda, Mirela C.; Mohnike, Klaus; Neumann, Uta; Ortolano, Rita; Poyrazoglu, Sukran; Thankamony, Ajay; Tomlinson, Jeremy W.; Vieites, Ana; Vries, Liat; Ahmed, S. Faisal; Ross, Richard J.; Krone, Nils

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry
In: European journal of endocrinology - Bristol : BioScientifica Ltd., Bd. 184 (2021), Heft 4, S. 553-563

Begutachteter Zeitschriftenartikel

Lucas-Herald, Angela K.; Bryce, Jillian; Kyriakou, Andreas; Lindhardt Ljubicic, Marie; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Baronio, Federico; Bertelloni, Silvano; Bettendorf, Markus; Brooke, Antonia; Grinten, Hedi L. Claahsen; Davies, Justin H.; Hermann, Gloria; Vries, Liat; Hughes, Ieuan A.; Tadokoro-Cuccaro, Rieko; Darendeliler, Feyza; Poyrazoglu, Sukran; Ellaithi, Mona; Evliyaoglu, Olcay; Fica, Simone; Nedelea, Lavinia; Gawlik, Aneta; Globa, Evgenia; Zelinska, Nataliya; Guran, Tulay; Güven, Ayla; Hannema, Sabine E.; Hiort, Olaf; Holterhus, Paul-Martin; Iotova, Violeta; Mladenov, Vilhelm; Jain, Vandana; Sharma, Rajni; Jennane, Farida; Johnston, Colin; Junior, Gil Guerra; Konrad, Daniel; Gaisl, Odile; Krone, Nils; Krone, Ruth; Lachlan, Katherine; Li, Dejun; Lichiardopol, Corina; Lisa, Lidka; Markosyan, Renata; Mazen, Inas; Mohnike, Klaus; Niedziela, Marek; Nordenstrom, Anna; Rey, Rodolfo; Skaeil, Mars; Tack, Lloyd J. W.; Tomlinson, Jeremy; Weintrob, Naomi; Cools, Martine; Ahmed, S. Faisal

Gonadectomy in conditions affecting sex development - a registry-based cohort study
In: European journal of endocrinology - Bristol: BioScientifica Ltd., 1948, Bd. 184 (2021), 6, S. 791-801, insges. 11 S.

Begutachteter Zeitschriftenartikel

Hoover-Fong, Julie; Cheung, Moira S.; Fano, Virginia; Hagenas, Lars; Hecht, Jacqueline T.; Ireland, Penny; Irving, Melita; Mohnike, Klaus; Offiah, Amaka C.; Okenfuss, Ericka; Ozono, Keiichi; Raggio, Cathleen; Tofts, Louise; Kelly, Dominique; Shediac, Renée; Pan, Wayne; Savarirayan, Ravi

Lifetime impact of achondroplasia - current evidence and perspectives on the natural history
In: Bone - Amsterdam [u.a.] : Elsevier Science, Bd. 146 (2021), Artikel 115872, insges. 15 S.

Begutachteter Zeitschriftenartikel

Berger, Alexandra; Rustemeier, Anne-Kathrin; Göbel, Jens; Kadioglu, Dennis; Britz, Vanessa; Schubert, Katharina; Mohnike, Klaus; Storf, Holger; Wagner, Thomas O. F.

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis - suggestions on software, data set and coding system
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 16 (2021), Artikel 198, insges. 14 S.

Begutachteter Zeitschriftenartikel

Rohayem, Julia; Bäumer, Lena Maria; Zitzmann, Michael; Fricke-Otto, Susanne; Mohnike, Klaus; Gohlke, Bettina; Reschke, Felix; Jourdan, Claus; Müller, Hermann L.; Dunstheimer, Désirée Patricia Alexandra; Weigel, Johannes; Jorch, Norbert; Müller-Rossberg, Elke; Lankes, Erwin; Gätjen, Imke; Richter-Unruh, Annette; Hauffa, Berthold; Kliesch, Sabine; Krumbholz, Aniko; Brämswig, Jürgen

Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia - the importance of optimal hormonal replacement
In: European journal of endocrinology - Bristol: BioScientifica Ltd., Bd. 184 (2021), 4, S. 487-501

Begutachteter Zeitschriftenartikel

Hoyer-Kuhn, Heike-Katharina; Huebner, Angela; Richter-Unruh, Annette; Bettendorf, Markus; Rohrer, Tilman; Kapelari, Klaus; Riedl, Stefan; Mohnike, Klaus; Dörr, Helmuth-Günther; Roehl, Friedrich-Wilhelm; Fink, Katharina; Holl, Reinhard W.; Wölfle, Joachim

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia - results of the German/Austrian registry
In: Endocrine Connections - Bristol: BioScientifica, 2012, Bd. 10 (2021), 5, S. 561-569, insges. 9 S.

Begutachteter Zeitschriftenartikel

Adler, Jakob; Rißmann, Anke; Kropf, Siegfried; Mohnike, Klaus; Taneva, Elina; Ansorge, Thomas; Zenker, Martin; Wex, Thomas

Estimated prevalence of harmful alcohol consumption in pregnant and nonpregnant women in Saxony-Anhalt (NorthEast Germany) using biomarkers
In: Alcoholism - Oxford [u.a.] : Wiley-Blackwell, Bd. 45 (2021), Heft 4, S. 819-827

Begutachteter Zeitschriftenartikel

Ali, Salma R.; Bryce, Jillian; Haghpanahan, Houra; Lewsey, James D.; Tan, Li En; Atapattu, Navoda; Birkebaek, Nils H.; Blankenstein, Oliver; Neumann, Uta; Balsamo, Antonio; Ortolano, Rita; Bonfig, Walter; Claahsen-van der Grinten, Hedi L.; Cools, Martine; Costa, Eduardo Correa; Darendeliler, Feyza; Poyrazoglu, Sukran; Elsedfy, Heba; Finken, Martijn J. J.; Flück, Christa E.; Gevers, Evelien; Korbonits, Márta; Guaragna-Filho, Guilherme; Guran, Tulay; Guven, Ayla; Hannema, Sabine E.; Higham, Claire; Hughes, Ieuan A.; Tadokoro-Cuccaro, Rieko; Thankamony, Ajay; Iotova, Violeta; Krone, Nils; Krone, Ruth; Lichiardopol, Corina; Luczay, Andrea; Mendonca, Berenice B.; Bachega, Tania A. S. S.; Miranda, Mirela C.; Milenkovic, Tatjana; Mohnike, Klaus; Nordenstrom, Anna; Einaudi, Silvia; Kamp, Hetty; Vieites, Ana; Vries, Liat; Ross, Richard J. M.; Ahmed, S. Faisal

Real-world estimates of adrenal insufficiencyrelated adverse events in children with congenital adrenal hyperplasia
In: The journal of clinical endocrinology & metabolism - Oxford : Oxford University Press, Bd. 106 (2021), Heft 1, S. e192-e203

2020

Begutachteter Zeitschriftenartikel

Dörr, Helmuth-Günther; Bettendorf, Markus; Binder, Gerhard; Brämswig, Jürgen; Hauffa, Berthold; Holterhus, Paul-Martin; Mohnike, Klaus; Schmidt, Heinrich; Stalla, Günter K.; Wabitsch, Martin; Wölfle, Joachim

Medizinische Betreuung von jungen Frauen mit Ullrich-Turner-Syndrom in Deutschland
In: Deutsche medizinische Wochenschrift: DMW ; Organ der Deutschen Gesellschaft für Innere Medizin (DGIM) ; Organ der Gesellschaft Deutscher Naturforscher und Ärzte (GDNÄ) - Stuttgart: Thieme, 1875, Bd. 145.2020, 4, S. e18-e23, insges. 6 S.[Gesehen am 02.04.2020; Online publiziert: 24.07.2019]

Begutachteter Zeitschriftenartikel

Banerjee, Indraneel; Senniappan, Senthil; Laver, Thomas W.; Caswell, Richard; Zenker, Martin; Mohnike, Klaus; Cheetham, Tim; Wakeling, Matthew N.; Ismail, Dunia; Lennerz, Belinda Susanne; Splitt, Miranda; Berberoğlu, Merih; Empting, Susann; Wabitsch, Martin; Pötzsch, Simone; Shah, Pratik; Siklar, Zeynep; Verge, Charles F.; Weedon, Michael N.; Ellard, Sian; Hussain, Khalid; Flanagan, Sarah E.

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
In: Wellcome open research - London: Wellcome Trust, 2016, Bd. 4.2020, Art.-Nr. 149, insgesamt 20 Seiten

Begutachteter Zeitschriftenartikel

Čechová, Anna; Altassan, Ruqaiah; Borgel, Delphine; Bruneel, Arnaud; Correia, Joana; Girard, Muriel; Harroche, Annie; KiecWilk, Beata; Mohnike, Klaus; Pascreau, Tiffany; Pawliński, Łukasz; Radenkovic, Silvia; VuillaumierBarrot, Sandrine; AldamizEchevarria, Luis; Couce, Maria Luz; Martins, Esmeralda G.; Quelhas, Dulce; Morava-Kozicz, Eva; Lonlay, Pascale; Witters, Peter; Honzík, Tomáš

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
In: Journal of inherited metabolic disease: JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism - Hoboken, NJ: Wiley, 1978, Bd. 43.2020, 4, S. 671-693

Begutachteter Zeitschriftenartikel

Dörr, Helmuth-Günther; Bettendorf, Markus; Binder, Gerhard; Hauffa, Berthold; Mohnike, Klaus; Müller, Hermann L.; Reinehr, Thomas; Stalla, Günter K.; Wölfle, Joachim

Malformationen des Zentralnervensystems - seltene Ursachen eines organischen Wachstumshormonmangels bei Kindern
In: Monatsschrift Kinderheilkunde: Organ der Deutschen Gesellschaft für Kinderheilkunde - Berlin: Springer, Bd. 168.2020, 3, S. 246-251, insges. 5 S.[Online First 22. Jun. 2018]

Begutachteter Zeitschriftenartikel

Yau, Daphne; Marwaha, Ria; Mohnike, Klaus; Sajjan, Rakesh; Empting, Susann; Craigie, Ross J.; Dunne, Mark J.; Salomon-Estebanez, Maria; Banerjee, Indraneel

Case report - contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy
In: International journal of pediatric endocrinology - New York, NY: Hindawi, 2009, 2020, Art.-Nr. 17, insgesamt 5 Seiten

Begutachteter Zeitschriftenartikel

Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kagami, Shoji; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-González, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia - a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
In: The lancet - London [u.a.] : Elsevier, Bd. 396 (2020), Heft 10252, S. 684-692

2019

Abstract

Neumann, Uta; Linde, Annelieke; Krone, Ruth; Guven, Ayla; Güran, Tülay; Elsedfy, Heba; Darendeliler, Feyza; Bachega, Tania; Balsamo, Antonio; Hannema, Sabine; Birkebaek, Nils H.; Vieites, Ana; Acerini, Carlo; Cools, Martine; Milenkovic, Tatjana; Bonfig, Walter; Costa, Eduardo; Atapattu, Navoda; Vries, Liat; Filho, Guilherme; Korbonits, Márta; Mohnike, Klaus; Bryce, Jillian; Ahmed, Faisal; Voet, Bernard; Blankenstein, Oliver; Claahsen van der Grinten, Hedi

Influence of salt supplementation on drug therapy in children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency aged 0-3 years - update on a retrospective multicentre analysis using the I-CAH registry
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, P1-157, S. 204-205

Abstract

Empting, Susann; Mohnike, Konrad; Barthlen, Winfried; Michel, Peter; Wieland, Ilse; Zenker, Martin; Mohnike, Wolfgang; Mohnike, Klaus

[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, FC9.6, S. 49

Abstract

Mohnike, Klaus

Management of neonatal hypoglycaemia
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, MTE 8, S. 16

Abstract

Ali, Salma; Daniel, Eleni; Bryce, Jillian; Ikiroma, Adalia; Lewsey, James; Ross, Richard; Krone, Ruth; Acerini, Carlo; Krone, Nils; Das, Urmi; Tomlinson, Jeremy; Korbonits, Márta; Higham, Claire; Darendeliler, Feyza; Guran, Tulay; Guven, Ayla; Attapatu, Navoda; Milenkovic, Tatjana; Raducanu-Lichiardopol, Corina; Hannema, Sabine; Claahsen, Hedi; Finken, Martijn; Baronio, Federico; Balsamo, Antonio; Einaudi, Silvia; Vries, Liat; Luczay, Andrea; Neumann, Uta; Blankenstein, Oliver; Mohnike, Klaus; Bonfig, Walter; Elsedfy, Heba; Birkebaek, Nils; Iotova, Violeta; Bachega, Tania; Mendonca, Berenice; Cools, Martine; Costa, Eduardo Correa; Guaragna-Filho, Guilherme; Rey, Rodolfo; Ahmed, S. Faisal

Development of an international benchmark for sick day episodes as a core clinical outcome in people with congenital adrenal hyperplasia
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, P1-167, S. 209-210

Abstract

Bacila, Irina-Alexandra; Blankenstein, Oliver; Neumann, Uta; Claahsen-van der Grinten, Hedi; Krone, Ruth; Acerini, Carlo; Bachega, Tania S. S.; Miranda, Mirella C.; Mendonca, Berenice; Birkebaek, Nils H.; Cools, Martine; Milenkovic, Tatjana; Bonfig, Walter; Tomlinson, Jeremy; Elsedfy, Heba; Balsamo, Antonio; Hannema, Sabine; Higham, Claire; Atapattu, Navoda; Lichiardopol, Corina; Guran, Tulay; Abali, Zehra; Mohnike, Klaus; Finken, Martijn J. J.; Vieites, Ana; Darendeliler, Feyza; Guven, Ayla; Korbonits, Márta; Vrie, Liat; Costa, Eduardo; Einaudi, Silvia; Kamp, Hendrike Jacoba; Iotova, Violeta; Ross, Richard; Ahmed, S. Faisal; Krone, Nils

Global practice of glucocorticoid and mineralocorticoid treatment in children and adults with congenital adrenal hyperplasia - insights from the I-CAH Registry
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, P1-10, S. 132-133

Buchbeitrag

Mohnike, Klaus

Angeborene Knochenerkrankungen
In: Neonatologie - die Medizin des Früh- und Reifgeborenen - Stuttgart: Georg Thieme Verlag, S. 671-672, 2019

Buchbeitrag

States, Lisa J.; Mohnike, Klaus

18F-DOPA PET
In: Congenital Hyperinsulinism: A Practical Guide to Diagnosis and Management - Cham: Springer International Publishing, 2019; De León-Crutchlow, Diva D. . - 2019, S. 85-93

Buchbeitrag

Mohnike, Klaus

Endokrinologische Störungen
In: Neonatologie - die Medizin des Früh- und Reifgeborenen - Stuttgart: Georg Thieme Verlag, S. 487-493, 2019

Begutachteter Zeitschriftenartikel

Riedl, Stefan; Röhl, Friedrich-Wilhelm; Bonfig, Walter; Brämswig, Jürgen; Richter-Unruh, Annette; Fricke-Otto, Susanne; Bettendorf, Markus; Riepe, Felix Günther; Kriegshäuser, Gernot; Schönau, Eckhard; Even, Gertrud; Hauffa, Berthold; Dörr, Helmuth-Günther; Holl, Reinhard W.; Mohnike, Klaus

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria - discordances in milder genotypes and in screened versus prescreening patients
In: Endocrine Connections - Bristol: BioScientifica, 2012, Bd. 8 (2019), 2, S. 86-94, insges. 9 S.

Begutachteter Zeitschriftenartikel

Bloemeke, Janika; Sommer, Rachel; Witt, Stefanie; Bullinger, Monika; Nordon, Clementine; Badia, Francisco Javier; González, Felipe Luna; Leiva-Gea, Antonio; Rufino, Francisco; Mayoral-Cleries, Fermín; Romero-Sanchiz, Pablo; Saiz, Verónica Clamagirand; Nogueira-Arjona, Raquel; Mohnike, Klaus; Quitmann, Julia

Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia
In: Quality of life research - Dordrecht [u.a.]: Springer Science + Business Media B.V, Bd. 28.2019, 9, S. 2553-2563

Begutachteter Zeitschriftenartikel

Cheung, Moira S.; Mohnike, Klaus

Meeting report from 2nd ICCBH-ERN BOND spinal complications in children and adults with achondroplasia workshop, Dublin, Ireland, 2nd July 2022
In: Bone - Amsterdam [u.a.]: Elsevier Science, Bd. 165 (2022)

Begutachteter Zeitschriftenartikel

Quitmann, Julia; Bloemeke, Janika; Silva, Neuza; Bullinger, Monika; Witt, Stefanie; Akkurt, Ilker; Dunstheimer, Désirée Patricia Alexandra; Vogel, Christian; Böttcher, Volker; Kuhnle Krahl, Ursula; Bettendorf, Markus; Schönau, Eckhard; Fricke-Otto, Susanne; Keller, Alexdandra; Mohnike, Klaus; Dörr, Helmuth-Günther

Quality of life of short-statured children born small for gestational age or idiopathic growth hormone deficiency within 1 year of growth hormone treatment
In: Frontiers in Pediatrics - Lausanne: Frontiers Media, 2013, Bd. 7.2019, Art.-Nr. 164, insges. 11 S.

Begutachteter Zeitschriftenartikel

Knarston, Ingrid M.; Robevska, Gorjana; Bergen, Jocelyn A.; Eggers, Stefanie; Croft, Brittany; Yates, Jason; Hersmus, Remko; Looijenga, Leendert H. J.; Cameron, Fergus J.; Mohnike, Klaus; Ayers, Katie L.; Sinclair, Andrew H.

NR5A1 gene variants repress the ovarianspecific WNT signaling pathway in 46,XX disorders of sex development patients
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 40 (2019), 2, S. 207-216

Begutachteter Zeitschriftenartikel

Dörr, Helmuth-Günther; Bettendorf, Markus; Binder, Gerhard; Brämswig, Jürgen; Hauffa, Berthold; Holterhus, Paul-Martin; Mohnike, Klaus; Schmidt, Heinrich; Stalla, Günter K.; Wabitsch, Martin; Wölfle, Joachim

Lebenssituation von jungen Frauen mit Ullrich-Turner-Syndrom nach dem Ende der Wachstumshormontherapie - Ergebnisse einer Umfrage in Deutschland
In: Deutsche medizinische Wochenschrift - Stuttgart: Thieme, Bd. 144.2019, 14, S. e87-e93, insges. 7 S.[Gesehen am 10.12.2019]

Begutachteter Zeitschriftenartikel

Cheung, Moira S.; Alves, Inés; Hagenäs, Lars; Mohnike, Klaus

Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019
In: Bone - Amsterdam [u.a.]: Elsevier Science, Bd. 127.2019, S. 499-502

Begutachteter Zeitschriftenartikel

Witt, Stefanie; Kolb, Beate; Bloemeke, Janika; Mohnike, Klaus; Bullinger, Monika; Quitmann, Julia

Quality of life of children with achondroplasia and their parents - a German cross-sectional study
In: Orphanet journal of rare diseases - London: BioMed Central, 2006, Bd. 14.2019, Art.-Nr. 194, insges. 9 S.

2018

Abstract

Rohayem, Julia; Schreiner, Felix; Riedl, Stefan; Voss, Egbert; Wolf, Johannes; Grasemann, Corinna; Fink, Katharina; Mohnike, Klaus

Impact of puberty on final height in children and adolescents with congenital adrenal hyperplasia (CAH)
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, Bd. 90.2018, Suppl. 1, P1-P008, S. 128

Abstract

Scarpa, Maurizio; Belmatoug, Nadia; Couce, Maria L.; Toro, Mireia; Dionisi-Vici, Carlo; Kozich, Viktor; Mohnike, Klaus; Morava, Eva; Plockinger, Ursula; Rahman, Shamima; Ziagaki, Athanasia

MetabERN (ERN for Rare Hereditary metabolic Diseases) - first year deliverables
In: Journal of inherited metabolic disease - Dordrecht : Springer - Bd. 41.2018, Suppl. 1, P-453, S. S215

Abstract

Lucas-Herald, Angela K.; Kyriakou, Andreas; Bryce, Jillian; Rodie, Martina; Acerini, Carlo; Arlt, Wiebke; Balsamo, Antonio; Baronico, Federico; Bertelloni, Silvano; Brooke, Antonia; Claahsen Van Der Grinten, Hedi; Cools, Martine; Darendeliler, Feyza; Davies, Justin H.; Desloovere, An; Ellaithi, Mona; Fica, Simona; Gawlik, Aneta; Guran, Tulay; Hannema, Sabine; Hiort, Olaf; Holterhus, Paul-Martin; Iotova, Violeta; Jennane, Farida; Lachlan, Katherine; Li, Dejun; Lisa, Lidka; Mazen, Inas; Mladenov, Wilchelm; Mohnike, Klaus; Nedelea, Lavinia; Niedziela, Marek; Nordenstrom, Anna; Poyrazoglu, Sukran; Rey, Rodolfo; Tadokoro-Cuccaro, Rieko; Weintrob, Naomi; Ahmed, Syed Faisal

Gonadectomy for adults with DSD conditions in the International Disorders of Sex Development Registry
In: Hormone research in paediatrics - Basel: Karger, Bd. 90.2018, Suppl. 1, P1-P232, S. 549-550

Begutachteter Zeitschriftenartikel

Merker, Andrea; Neumeyer, Luitgard; Hertel, Niels Thomas; Grigelioniene, Giedre; Mäkitie, Outi; Mohnike, Klaus; Hagenäs, Lars

Development of body proportions in achondroplasia - sitting height, leg length, arm span, and foot length
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 9, S. 1819-1829

Begutachteter Zeitschriftenartikel

Krull, Sarah; Rißmann, Anke; Krause, Hardy; Mohnike, Klaus; Roehl, Friedrich-Wilhelm; Koehn, Andrea; Hass, Hans-Juergen

Outcome after hypospadias repair - evaluation using the hypospadias objective penile evaluation score
In: European journal of pediatric surgery - Stuttgart : Thieme, Bd. 28 (2018), Heft 3, S. 268-272

Begutachteter Zeitschriftenartikel

Shima, Hirohito; Koehler, Katrin; Nomura, Yumiko; Sugimoto, Kazuhiko; Satoh, Akira; Ogata, Tsutomu; Fukami, Maki; Jühlen, Ramona; Schülke-Gerstenfeld, Markus; Mohnike, Klaus; Huebner, Angela; Narumi, Satoshi

Two patients with MIRAGE syndrome lacking haematological features - role of somatic second-site reversion SAMD9 mutations
In: Journal of medical genetics - London: BMJ Publishing Group, Bd. 55.2018, 2, S. 81-85

Begutachteter Zeitschriftenartikel

Paasch, Christoph; Rink, Silke; Steinbach, Marcus; Kneif, Sören; Peetz, Dirk; Klötzler, Andre; Gauger, Ulrich; Mohnike, Klaus; Hünerbein, Michael

Bilirubin, urobilinogen, pancreas elastase and bile acid in drain fluid - the GBUP-study : analysis of biomarkers for a colorectal anastomotic leakage
In: Annals of medicine and surgery - Amsterdam [u.a.]: Elsevier, Bd. 35.2018, S. 44-50

Begutachteter Zeitschriftenartikel

Merker, Andrea; Neumeyer, Luitgard; Hertel, Niels Thomas; Grigelioniene, Giedre; Mäkitie, Outi; Mohnike, Klaus; Hagenäs, Lars

Growth in achondroplasia - development of height, weight, head circumference, and body mass index in a European cohort
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 8, S. 1723-1734

Begutachteter Zeitschriftenartikel

Steen, Ivo; Albada, Mirjam E.; Mohnike, Klaus; Christesen, Henrik Thybo; Empting, Susann; Salomon-Estebanez, Maria; Rasmussen, Amalie Greve; Stuart, Annemarie Verrijn; Linde, Annelieke A. A.; Banerjee, Indraneel; Boot, Annemieke M.

A multicenter experience with long-acting somatostatin analogues in patients with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 89.2018, 2, S. 82-89

Begutachteter Zeitschriftenartikel

Bonfig, Walter; Roehl, Friedhelm; Riedl, Stefan; Brämswig, Jürgen; Richter-Unruh, Annette; Fricke-Otto, Susanne; Hübner, Angela; Bettendorf, Markus; Schönau, Eckhard; Dörr, Helmuth-Günther; Holl, Reinhard W.; Mohnike, Klaus

Sodium chloride supplementation is not routinely performed in the majority of German and Austrian infants with classic salt-wasting congenital adrenal hyperplasia and has no effect on linear growth and hydrocortisone or fludrocortisone dose
In: Hormone research in paediatrics - Basel: Karger, Bd. 89 (2018), 1, S. 7-12, insges. 6 S.

Begutachteter Zeitschriftenartikel

Ludwig, Anja; Enke, Simone; Heindorf, Janine; Empting, Susann; Meissner, Thomas; Mohnike, Klaus

Formal neurocognitive testing in 60 patients with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 89.2018, 1, S. 1-6

Begutachteter Zeitschriftenartikel

Dörr, Helmuth-Günther; Bettendorf, Markus; Binder, Gerhard; Dötsch, Jörg; Hauffa, Berthold; Mohnike, Klaus; Müller, Hermann L.; Woefle, Joachim

Effekte eines späten Beginns einer Therapie mit Wachstumshormon - Ergebnisse eines Expertenworkshops
In: Monatsschrift Kinderheilkunde - Berlin: Springer, Bd. 166.2018, 4, S. 317-324, insges. 8 S.[Gesehen am 05.04.2019; First online: 07 March 2017]

Begutachteter Zeitschriftenartikel

Welters, Alena; Meissner, Thomas; Grulich-Henn, Jürgen; Fröhlich-Reiterer, Elke; Warncke, Katharina; Mohnike, Klaus; Blankenstein, Oliver; Menzel, Ulrike; Datz, Nicolin; Bollow, Esther; Holl, Reinhard W.

Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism
In: Orphanet journal of rare diseases - London: BioMed Central, 13(2018) Artikel-Nummer 230, 10 Seiten[Gesehen am 04.07.2019]

2017

Abstract

Lucas-Herald, Angela K.; Kyriakou, Andreas; Bryce, Jillian; Rodie, Martina; Acerini, Carlo; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Baronico, Federico; Bertelloni, Silvano; Brooke, Antonia; Chatelain, Pierre; Claahsen Van Der Grinten, Hedi; Cools, Martine; Darendeliler, Feyza; Davies, Justin H.; Ellaithi, Mona; Fica, Simona; Gawlik, Aneta M.; Guran, Tulay; Hannema, Sabine E.; Hewitt, Jacqueline; Hiort, Olaf; Holterhus, Paul-Martin; Iotova, Violeta; Jennane, Farida; Johnston, Colin; Krone, Ruth E.; Krone, Nils; Lachlan, Katherine; Li, Dejun; Lichiardopol, Corina; Lisa, Lidka; Mazen, Inas; Mohnike, Klaus; Niedziela, Marek; Nordenstrom, Anna; Rey, Rodolfo A.; Vries, Liat; Weintrob, Naomi; Ahmed, Syed Faisal

The prevalence of adults with DSD conditions at risk of hypogonadism in the International Disorders of Sex Development Registry
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, P3-1511, Seite 557-558

Abstract

Huebner, Angela; Mohnike, Klaus; Narumi, Satoshi; Landgraf, Dana; Reschke, Felix; Jühlen, Ramona; Koehler, Katrin

Mutation in SAMD9 extends the genetic and clinical spectrum of triple A syndrome
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, FC98, Seite 53

Abstract

Gkourogianni, Alexandra; Jee, Youn Hee; Mohnike, Klaus; Andrade, Anenisia C.; Baron, Jeffrey; Nilsson, Ola

Non-familial short stature due to a de novo mutation in aggrecan
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, P3-852, Seite 504-505

Abstract

Daniel, Eleni; Sandrk, Marija; Blankenstein, Oliver; Neumann, Uta; Claahsen-Van der Grinten, Hedi; Linde, Annelieke; Darendeliler, Feyza; Pyrazoglu, Sukran; Mendonca, Berenice B.; Bachega, Tania S.S.; Miranda, Mirela C.; Acerini, Carlo; Guran, Tulay; Vieites, Ana; Birkebaek, Niels H.; Cools, Martine; Milenkovic, Tatjana; Bonfig, Walter; Tomlinson, Jeremy W.; Ahmed, Syed Faisal; Elsedfy, Heba; Balsamo, Antonio; Hannema, Sabine E.; Higham, Claire; Atapattu, Navoda; Lichiardopol, Corina; Krone, Ruth E.; Mohnike, Klaus; Ross, Richard J.; Krone, Nils

Defining the dose, type and timing of glucocorticoid and mineralocorticoid replacement in 256 children and adults with congenital adrenal hyperplasia (CAH) in the I-CAH registry
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, P2-1503, Seite 358

Abstract

Köhler, Katrin; Landgraf, Dana; Narumi, Satoshi; Mohnike, Klaus; Jühlen, Ramona; Huebner, Angela

Mutation screening in 15 patients with suspected triple A syndrome revealed a novel mutation in SAMD9
In: 60. Deutscher Kongress für Endokrinologie - Hannover: pharma service - eine Business Unit der documediaS GmbH, 2017, 2017, Abstract-ID: P1-04-10

Begutachteter Zeitschriftenartikel

Wakeling, Emma L.; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O'Connell, Susan M.; Salem, Jennifer; Bliek, Jet; Canton, Ana P.M.; Chrzanowska, Krystyna H.; Davies, Justin H.; Dias, Renuka P.; Dubern, Béatrice; Elbracht, Miriam; Giabicani, Eloise; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita C.S.; Jorge, Alexander A.; Kagami, Masayo; Linglart, Agnes; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E.; Murray, Philip G.; Ogata, Tsutomu; Petit, Isabelle Oliver; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D.; Temple, I. Karen; Mackay, Deborah J.G.; Netchine, Irène

Diagnosis and management of SilverRussell syndrome - first international consensus statement
In: Nature reviews / Endocrinology - London [u.a.]: Nature Publ. Group, 2009, Bd. 13.2017, 2, S. 105-124

Begutachteter Zeitschriftenartikel

Weigel, Johannes; Richter, Roland; Böhm, Peter; Knye, Kathrin; Empting, Susann; Mohnike, Klaus

Spontaneous growth and effect of early therapy with calcitriol and phosphate in X-linked hypophosphatemic rickets
In: Pediatric endocrinology reviews: PER diabetes, nutrition, metabolism, genetics - Netanya: Y.S. Medical Media Ltd, Bd. 15.2017, Suppl. 1, Seite 119-122

Begutachteter Zeitschriftenartikel

Tatsi, Christina; Gkourogianni, Alexandra; Mohnike, Klaus; DeArment, Diana; Witchel, Selma; Andrade, Anenisia C.; Markello, Thomas C.; Baron, Jeffrey; Nilsson, Ola; Jee, Youn Hee

Aggrecan mutations in nonfamilial short stature and short stature without accelerated skeletal maturation
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 1.2017, 8, S. 1006-1011

Begutachteter Zeitschriftenartikel

Thiele, Alena Gerlinde; Gausche, Ruth; Lindenberg, Cornelia; Beger, Christoph; Arélin, Maria; Keil, Carmen; Mütze, Ulrike; Weigel, Johannes; Mohnike, Klaus; Baerwald, Christoph; Scholz, Markus; Kiess, Wieland; Pfäffle, Roland Werner; Beblo, Skadi

Growth and final height among children with phenylketonuria
In: Pediatrics - Elk Grove Village, Ill.: American Academy of Pediatrics, Bd. 140.2017, 5, Art.-Nr. e20170015, insges. 14 S.

Begutachteter Zeitschriftenartikel

Elbracht, Miriam; Mohnike, Klaus; Eggermann, Thomas; Binder, Gerhard

Diagnostik und Therapie des Silver-Russell-Syndroms - Zusammenfassung des ersten internationalen Konsensus-Statements
In: Monatsschrift Kinderheilkunde - Berlin: Springer, 1996, Bd. 165.2017, 10, S. 895-904

2016

Buchbeitrag

Vorwerk, Peter; Redlich, Antje Karen; Mohnike, Klaus

Pädiatrische Tumoren
In: PET/CT-Atlas: Interdisziplinäre PET/CT- und PET/MR-Diagnostik und Therapie / Wolfgang Mohnike, Gustav Hör, Andreas Hertel, Heinrich Schelbert (Hrsg.) - Berlin: Springer . - 2016, S. 435-464

Buchbeitrag

Barthlen, Winfried; Varol, Emine; Empting, Susann; Mohnike, Klaus

Kongenitaler Hyperinsulinismus
In: PET/CT-Atlas : Interdisziplinäre PET/CT- und PET/MR-Diagnostik und Therapie. - Berlin : Springer, S. 759-763, 2016

Begutachteter Zeitschriftenartikel

Barthlen, Winfried; Varol, Emine; Empting, Susann; Wieland, Ilse; Zenker, Martin; Mohnike, Wolfgang; Vogelgesang, Silke; Mohnike, Klaus

Surgery in focal congenital hyperinsulinism (CHI) - the Hyperinsulinism Germany International experience in 30 children
In: Pediatric endocrinology reviews: PER diabetes, nutrition, metabolism, genetics - Netanya: Y.S. Medical Media Ltd., Bd. 14 (2016), 2, S. 129-137

Begutachteter Zeitschriftenartikel

Zabel, Bernhard; Lausch, Ekkehart; Matysiak, Uta; Mohnike, Klaus

Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien
In: Aktuelle Rheumatologie - Stuttgart: Thieme, 1980, Bd. 41.2016, 5, S. 377-382

Begutachteter Zeitschriftenartikel

Mohnike, Klaus

Absolute Raritäten
In: Deutsches Ärzteblatt international - Köln : Dt. Ärzte-Verl., Bd. 113 (2016), Heft 27/28, S. 487

Begutachteter Zeitschriftenartikel

Bonfig, Walter; Roehl, Friedrich-Wilhelm; Riedl, Stefan; Dörr, Helmuth-Günther; Bettendorf, Markus; Brämswig, Jürgen; Schönau, Eckhard; Riepe, Felix Günther; Hauffa, Berthold; Holl, Reinhard W.; Mohnike, Klaus

Blood pressure in a large cohort of children and adolescents with classic adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency
In: American journal of hypertension: the official journal of the American Society of Hypertension - Oxford: Oxford Univ. Press, 1988, Bd. 29.2016, 2, S. 266-272, insges. 7 S.[Published: 11 June 2015]

2015

Abstract

Papathemeli, Despoina; Mohnike, Klaus; Gollnick, Harald; Ambach, Andreas

Multilokuläre Riesenmongolenflecken, Hepatomegalie und Skelettanomalien in der Differenzialdiagnose angeborener Stoffwechselerkrankungen
In: Journal der Deutschen Dermatologischen Gesellschaft: JDDG : Organ der Deutschen Dermatologischen Gesellschaft (DDG) und der Österreichischen Gesellschaft für Dermatologie und Venerologie (ÖGDV): JDDG ; Organ der Deutschen Dermatologischen Gesellschaft (DDG) und der Österreichischen Gesellschaft für Dermatologie und Venerologie (ÖGDV)/ Deutsche Dermatologische Gesellschaft - Chichester: Blackwell, 2003, Bd. 13.2015, 4, S. 376

Begutachteter Zeitschriftenartikel

Becker, Susen; Rönicke, Sabine; Empting, Susann; Haas, Dorothea; Mohnike, Klaus; Beblo, Skadi; Mütze, Ulrike; Husain, Ralf A.; Thiery, Joachim; Ceglarek, Uta

LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism
In: Analytical and bioanalytical chemistry - Berlin: Springer, Bd. 407 (2015), 17, S. 5227-5233

Begutachteter Zeitschriftenartikel

Makov, M.; Chodick, Gabriel; Mohnike, Klaus; Otonkoski, Timo; Huopio, Hanna; Banerjee, Indraneel; Cavé, Hélène; Polak, Michel; Christesen, Henrik T.; Hussain, Khalid; Deleon, Diva; Stanley, Charles; Cappa, Marco; Ramos, Olga; Zangen, David; Laron, Zvi

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies - an international collaborative study ; preliminary communication
In: Diabetic medicine - Oxford [u.a.]: Wiley-Blackwell, 1984, Bd. 32.2015, 5, S. 701-703

Begutachteter Zeitschriftenartikel

Papathemeli, Despoina; Mohnike, Klaus; Ambach, Andreas

Multiple polycyclic brownish to reddish macules on the skin in an infant
In: JAMA dermatology - Chicago, Ill: American Medical Association, 2013, Bd. 151.2015, 11, S. 1249-1250

Begutachteter Zeitschriftenartikel

Ellerbroek, Victoria Louise; Bonfig, Walter; Dörr, Helmuth-Günther; Bettendorf, Markus; Hauffa, Berthold; Fricke-Otto, Susanne; Rohrer, Tilman; Reschke, Felix; Schönau, Eckhard; Schwab, Karl Otfried; Kapelari, Klaus; Röhl, Friedrich-Wilhelm; Mohnike, Klaus; Holl, Reinhard W.

Long-term surveillance of children with congenital hypothyroidism - data from the German registry for congenital hypothyroidism (AQUAPE Hypo Dok) : Daten aus dem Deutschen Register für Konnatale Hypothyreose (AQUAPE Hypo Dok)
In: Klinische Pädiatrie - Stuttgart: Thieme, Bd. 227 (2015), 4, S. 199-205

Begutachteter Zeitschriftenartikel

Wieacker, Isabelle Catherine; Peter, Michael; Borucki, Katrin; Empting, Susann; Roehl, Friedrich-Wilhelm; Mohnike, Klaus

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
In: The journal of pediatric endocrinology and metabolism - Berlin [u.a.]: de Gruyter, Bd. 28 (2015), 7/8, S. 867-871

Artikel in Kongressband

Ambach, Andreas; Papathemeli, Despoina; Mohnike, Klaus; Gollnick, Harald

Multiple "Mongolenflecke" als kutane Manifestation einer Typ-1 GM1-Gangliosidose mit Nachweis einer homozygoten Mutation des Exon 2 des GLB1-Gens
In: 20. Jahrestagung: 7. März 2015 in Halle (Saale) ; [Programm]// Gesellschaft für Dermatologie und Venerologie Sachsen-Anhalt, 2015, insges. 3 S.

2014

Begutachteter Zeitschriftenartikel

Mohnike, Klaus; Wieland, Ilse; Barthlen, Winfried; Vogelgesang, Silke; Empting, Susann; Mohnike, Wolfgang; Meissner, Thomas; Zenker, Martin

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger - from developmental endocrinology to clinical research, Bd. 81 (2014), 3, S. 156-168

Begutachteter Zeitschriftenartikel

Rönicke, Sabine; Starke, Irmgard; Mohnike, Klaus; Köhn, Andrea; Rißmann, Anke

Die Bedeutung des Neugeborenen-Screenings anhand von Fallbeispielen
In: Die Hebamme - Stuttgart: Thieme, 2004, Bd. 27.2014, 1, S. 44-47

Begutachteter Zeitschriftenartikel

Mohnike, Klaus; Wieland, Ilse; Barthlen, Winfried; Vogelgesang, Silke; Empting, Susann; Mohnike, Wolfgang; Meissner, Thomas; Zenker, Martin

Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism
In: Hormone Research in Paediatrics, 2014, S. , ISSN 1663-2826, 10.1159/000356905

Begutachteter Zeitschriftenartikel

Brockow, Inken; Praetorius, Mark; Neumann, Katrin; Zehnhoff-Dinnesen, Antoinette; Mohnike, Klaus; Matulat, Peter; Rohlfs, Anna-Katharina; Lang-Roth, Ruth; Gross, Manfred; Duphorn, Eva; Meuret, Sylvia; Seidel, Annett; Schönfeld, Rüdiger; Schönweiler, Rainer; Dienlin, Sieghard; Rißmann, Anke; Friedrich, I.; Lehnert, Bernhard; Nennstiel-Ratzel, Uta

Universelles Neugeborenen-Hörscreening - Definition einheitlicher Parameter durch den Verband Deutscher Hörscreening-Zentralen (VDHZ) als Voraussetzung für eine flächendeckende Evaluation mit validen Ergebnissen
In: HNO - Berlin: Springer, 1996, Bd. 62.2014, 3, S. 165-170

Originalartikel in begutachteter internationaler Zeitschrift

Brockow, I; Praetorius, M; Neumann, K; Am Zehnhoff-Dinnesen, A; Mohnike, K; Matulat, P; Rohlfs, K; Lang-Roth, R; Gross, M; Duphorn, E; Meuret, S; Seidel, A; Schönfeld, R; Schönweiler, R; Dienlin, S; Rißmann, A; Friedrich, I; Lehnert, B; Nennstiel-Ratzel, U; VDHZ.,

Universal newborn hearing screening : Definition of uniform parameters by the Association of German Hearing Screening Centers as a requirement for nationwide evaluation with valid results
In: 2014,

2013

Buchbeitrag

Avenarius, Stefan; Empting, Susann; Röhl, Friedrich-Wilhelm; Heinrichs, Thomas; Rohden, Ludwig; Mohnike, Klaus

Sonometrie bei Achondroplasie
In: Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen: Diagnostik und Betreuung spezifischer Kleinwuchsformen - Berlin: ABW, Wissenschaftsverlag, 2013 . - 2013, S. 41-50

Buchbeitrag

Mohnike, Klaus; Zabel, Bernhard

Medikamentöse Therapieoptionen bei Achondroplasie und Hypochondroplasie
In: Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen: Diagnostik und Betreuung spezifischer Kleinwuchsformen - Berlin: ABW, Wissenschaftsverlag, 2013 . - 2013, S. 155-160

Buchbeitrag

Mohnike, Klaus; Vaupel, Nora

Klinisches Spektrum von Achondroplasie und Hypochondroplasie
In: Achondroplasie und Hypochondroplasie. - Berlin : ABW Wissenschaftsverlagsgesellschaft, S. 29-34, 2013

Begutachteter Zeitschriftenartikel

Mohnike, Klaus; Richter-Unruh, Annette

Handlungsempfehlung nach der Leitlinie Pubertas praecox
In: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin ; Organ der Deutschen Gesellschaft für Kinderheilkunde ; Organ der Österreichischen Gesellschaft für Kinderheilkunde - Heidelberg: Springer Medizin-Verl., Bd. 161 (2013), 2, S. 153-154

Begutachteter Zeitschriftenartikel

Nennstiel-Ratzel, Uta; Lüders, Anja; Odenwald, Birgit; Mohnike, Klaus; Liebl, Bernhard

Neugeborenenscreening auf angeborene Stoffwechsel- und Hormonstörungen in Deutschland
In: Pädiatrische Praxis: Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis - Kulmbach: Mediengruppe Oberfranken Fachverlage GmbH & Co. KG, Bd. 80 (2013), 4, S. 551-558

Herausgeberschaft

Mohnike, Klaus; Klingebiel, Karl-Heinz; Vaupel, Nora; Zabel, Bernhard

Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen
In: Berlin: ABW, Wissenschaftsverlag, 2013, 2. Auflage, 211 Seiten, Illustrationen, Diagramme, 209 mm x 147 mm

2012

Buchbeitrag

Barthlen, Winfried; Mohnike, Wolfgang; Mohnike, Klaus

Insulinome
In: Solide Tumoren im Kindesalter: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen / hrsg. von Jörg Fuchs. Unter Mitarb. von Winfried Barthlen ...: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen - Stuttgart: Schattauer, 2012 . - 2012, S. 283-286

Buchbeitrag

Barthlen, Winfried; Mohnike, Klaus

Kongenitaler Hyperinsulinismus
In: Solide Tumoren im Kindesalter: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen / hrsg. von Jörg Fuchs. Unter Mitarb. von Winfried Barthlen ...: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen - Stuttgart: Schattauer, 2012 . - 2012, S. 288-293

2011

Buchbeitrag

Vorwerk, Peter; Kluge, Regine; Redlich, Antje Karen; Mohnike, Klaus

Pädiatrie
In: PET/CT-Atlas: interdisziplinäre onkologische, neurologische und kardiologische PET/CT-Diagnostik ; mit 32 Tabellen / W. Mohnike; G. Hör; H. Schelbert - Berlin [u.a.]: Springer . - 2011, S. 845-892

Originalartikel in begutachteter internationaler Zeitschrift

Rohden, Ludwig von; Mohnike, Klaus; Mau, Harald; Eberhard, Traugott; Mohnike, Wolfgang; Blankenstein, Oliver; Empting, Susann; Koch, Michael; Füchtner, Frank; Barthlen, Winfried

Visualization of the focus in congenital hyperinsulinism by intraoperative sonography
In: Seminars in pediatric surgery. - New York, NY : Elsevier, Bd. 20.2011, 1, S. 28-31

Originalartikel in begutachteter internationaler Zeitschrift

Ludwig, Anja; Ziegenhorn, Katja; Empting, Susann; Meissner, Thomas; Marquard, Jan; Holl, Reinhard; Mohnike, Klaus

Glucose metabolism and neurological outcome in congenital hyperinsulinism
In: Seminars in pediatric surgery - New York, NY: Elsevier, 1992, Bd. 20.2011, 1, S. 45-49

Originalartikel in begutachteter internationaler Zeitschrift

Barthlen, Winfried; Mohnike, Wolfgang; Mohnike, Klaus

Techniques in pediatric surgery: congenital hyperinsulinism
In: Hormone research in paediatrics - Basel : Karger, Bd. 75 (2011), Heft 4, S. 304-310

Originalartikel in begutachteter nationaler Zeitschrift

Rohden, Ludwig von; Mohnike, Klaus; Mau, Harald; Eberhard, Traugott; Mohnike, Wolfgang; Blankenstein, Oliver; Empting, Susann; Koch, Michael; Füchtner, Frank; Barthlen, Winfried

Intraoperative Sonography: A Technique for Localizing Focal Forms of Congenital Hyperinsulinism in the Pancreas
In: Ultraschall in der Medizin. - Stuttgart : Thieme, Bd. 32.2011, 1, S. 74-80

2010

Buchbeitrag

Mohnike, Klaus

Angeborene Knochenerkrankungen
In: Neonatologie - Stuttgart: Georg Thieme Verlag . - 2010, S. 582-583

Buchbeitrag

Mohnike, Klaus

Endokrinologische Störungen
In: Neonatologie - Stuttgart: Georg Thieme Verlag . - 2010, S. 403-410

Originalartikel in begutachteter internationaler Zeitschrift

Arnoux, Jean-Baptiste; Lonlay, Pascale; Ribeiro, Maria-Joao; Hussain, Khalid; Blankenstein, Oliver; Mohnike, Klaus; Valayannopoulos, Vassili; Robert, Jean-Jacques; Rahier, Jacques; Sempoux, Christine; Bellanné, Christine; Verkarre, Virginie; Aigrain, Yves; Jaubert, Francis; Brunelle, Francis; Nihoul-Fékété, Claire

Congenital hyperinsulinism
In: Early human development: an international journal concerned with the continuity of fetal and postnatal life - Amsterdam: Elsevier North-Holland Biomedical Press, 1977, Bd. 86.2010, 5, S. 287-294

Originalartikel in begutachteter internationaler Zeitschrift

Barthlen, Winfried; Mohnike, Wolfgang; Mohnike, Klaus

Techniques in pediatric surgery: congenital hyperinsulinism
In: Hormone research in paediatrics - Basel : Karger, Bd. 74 (2010), Heft 6, S. 438-443

2008

Buchbeitrag

Dornheim, Jana; Preim, Bernhard; Preim, Uta; Mohnike, Konrad; Blankenstein, Oliver; Füchtner, Frank; Mohnike, Wolfgang; Empting, Susann; Mohnike, Klaus

Planungsunterstützung für Pankreasoperationen bei Hyperinsulinismus von Kindern
In: Bildverarbeitung für die Medizin 2008: Algorithmen - Systeme - Anwendungen ; Proceedings des Workshops vom 6. bis 8. April 2008 in Berlin / Thomas Tolxdorff; Jürgen Braun; Thomas M. Deserno; Heinz Handels; Alexander Horsch; Hans-Peter Meinzer (Hrsg.): Algorithmen - Systeme - Anwendungen ; Proceedings des Workshops vom 6. bis 8. April 2008 in Berlin - Berlin: Springer; Tolxdorff, Thomas . - 2008, S. 232-236Kongress: Workshop Bildverarbeitung für die Medizin (Berlin : 2008.04.06-08)

Herausgeberschaft

Starke, Irmgard; Mohnike, Klaus

Cholesterin - zwischen Mangel und Überfluss - 20. Jahrestagung 2006 der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS), Fulda
In: Heilbronn: SPS Publ., 2008 - (APS-Edition)

Originalartikel in begutachteter internationaler Zeitschrift

Barthlen, Winfried; Blankenstein, Oliver; Mau, Harald; Koch, Martin; Höhne, Claudia; Mohnike, Wolfgang; Eberhard, Traugott; Füchtner, Frank; Lorenz-Depiereux, Bettina; Mohnike, Klaus

Evaluation of (18F)Fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism
In: The journal of clinical endocrinology & metabolism: JCEM ; official journal of the Endocrine Society - Chevy Chase, Md.: Endocrine Society, Bd. 93 (2008), 3, S. 869-875

Originalartikel in begutachteter internationaler Zeitschrift

Mohnike, Klaus; Blankenstein, Oliver; Pfützner, Andreas; Pötzsch, Simone; Schober, Edith; Steiner, Solomon; Hardy, Olga T.; Grimberg, Adda van; Waarde, W. M. van

Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon
In: Hormone research - Basel : Karger, Bd. 70 (2008), Heft 1, S. 59-64

Originalartikel in begutachteter internationaler Zeitschrift

Kapoor, R. R.; Gilbert, C.; Mohnike, Klaus; Blankenstein, Oliver; Füchtner, Frank; Hussain, K.

Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas
In: Archives of disease in childhood: the journal of the Royal College of Paediatrics and Child Health: the journal of the Royal College of Paediatrics and Child Health - London: BMJ Publ. Group, Bd. 93.2008, 2, S. F166

Originalartikel in begutachteter nationaler Zeitschrift

Mohnike, Klaus; Starke, Irmgard; Pötzsch, Simone

Metabolische Krisen im Kindesalter
In: Intensivmedizin up2date - Stuttgart: Thieme, Bd. 4 (2008), 3, S. 229-244

2007

Herausgeberschaft

Mohnike, Klaus; Klingebiel, Karl-Heinz; Freisinger, Peter; Jeszenszky, Deszö

Diastrophe Dysplasie und Spondyloepiphysäre Dysplasie - Diagnostik, Betreuung und Langzeitkonsequenzen
In: Berlin: ABW, Wissenschaftsverlag, 2007, XVII, 195 Seiten, Illustrationen, Diagramme, 21 cm

Originalartikel in begutachteter internationaler Zeitschrift

Jakubiczka, Sibylle; Bettecken, Thomas; Mohnike, Klaus; Schneppenheim, Reinhard; Stumm, Markus; Tönnies, Holger; Volleth, Marianne; Wieacker, Peter

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
In: European journal of pediatrics: official organ of the Belgian Pediatric Association - Berlin: Springer, Bd. 166 (2007), 7, S. 743-745

Originalartikel in begutachteter internationaler Zeitschrift

Schulz, Solveig; Vielhaber, Stefan; Muschke, Petra; Mohnike, Klaus; Gooding, R.; Wieacker, Peter

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings - a Marinesco-Sjögren-Like syndrome
In: Neuropediatrics: journal of pediatric, neurobiology and neurogenetics ; official journal of the Society for Neuropediatrics - Stuttgart [u.a.]: Thieme, Bd. 38 (2007), 2, S. 88-90

Originalartikel in begutachteter internationaler Zeitschrift

Röpke, Albrecht; Kalinski, Thomas; Mohnike, Klaus; Sel, S.; Jakubiczka, Sibylle; Pelz, Antje-Friederike; Roessner, Albert; Wieacker, Peter F.

Distribution of sex chromosomes in dysgenetic gonads of mixed type
In: Cytogenetic and genome research - Basel: Karger, Bd. 116 (2007), 1/2, S. 146-151

Wissenschaftliche Monographie

Rohden, Ludwig; Pötzsch, Simone; Mohnike, Klaus

Mikrosonographie der Schilddrüse im Kindesalter
In: München: Marseille, 2007, 64 S, Ill.

2006

Buchbeitrag

Mohnike, Klaus

Nesidioblastose (angeborener Hyperinsulinismus)
In: PET/CT-Atlas: ein interdisziplinärer Leitfaden der onkologischen PET/CT-Diagnostik ; mit 15 Tabellen / Wolfgang Mohnike; Gustav Hör. Unter Mitarb. von Thomas Beyer ... - Berlin: Springer . - 2006, S. 382-383

Originalartikel in begutachteter internationaler Zeitschrift

Mohnike, Klaus; Blankenstein, Oliver; Christesen, H. T.; Lonlay, J. De; Hussain, K.; Koopmans, K. P.; Minn, H.; Mohnike, W.; Mutair, A.; Otonkoski, T.; Rahier, J.; Ribeiro, M.; Schoenle, E.; Fékété, C. N.

Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
In: Hormone research: from developmental endocrinology to clinical research ; official organ of the European Society for Paediatric Endocrinology - Basel: Karger, Bd. 66 (2006), Heft 1, S. 40-42

Originalartikel in begutachteter internationaler Zeitschrift

Mohnike, Klaus; Blankenstein, Oliver; Christesen, H. T.; Lonlay, J. De; Hussain, K.; Koopmans, K. P.; Minn, H.; Mohnike, W.; Mutair, A.; Otonkoski, T.; Rahier, J.; Ribeiro, M.; Schoenle, E.; Fékété, C. N.

Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
In: Hormone research - Basel : Karger, Bd. 66 (2006), Heft 1, S. 40-42

Originalartikel in begutachteter nationaler Zeitschrift

Weigel, Johannes F. W.; Bührdel, Peter; Robel-Tillig, Eva; Mohnike, Klaus; Kiess, Wieland; Pfäffle, Roland W.

Rationelle Diagnostik bei kindlichen Hypoglykämien
In: Kinder- und Jugendmedizin - Stuttgart: Georg Thieme Verlag KG, Bd. 6 (2006), Heft 4, S. 215-222

Originalartikel in begutachteter nationaler Zeitschrift

Reschke, Kirsten; Busse, Sebastian; Mohnike, Klaus; Buchfelder, M.; Ranke, M.; Fahlbusch, R.; Lehnert, Hendrik

CranioNet - eine interdisziplinäre Strategie für das Kraniopharyngeom
In: Deutsche medizinische Wochenschrift . - Stuttgart : Thieme, Bd. 131.2006, 15, S. 821-824

Originalartikel in begutachteter nationaler Zeitschrift

Mohnike, Klaus

Das Klinefelter-Syndrom
In: Pädiatrische Praxis: Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis - Kulmbach: Mediengruppe Oberfranken Fachverlage GmbH & Co. KG, Bd. 69 (2006), Heft 3, S. 495-501

Originalartikel in begutachteter zeitschriftenartiger Reihe

Krause, Dieter; Jachau, Katja; Mohnike, Klaus; Nennstiel-Ratzel, Uta; Busch, U.; Rosentreter, Yvonne; Sorychta, Janine; Starke, Irmgard; Sander, J.; Vennemann, M.; Bajanowski, T.; Szibor, Reinhard

Mutation typing in patients with medium chain AcylCoA dehydrogenase deficiency (MCADD) and PCR based mutation screening in SIDS victims
In: Progress in forensic genetics 11: proceedings of the 21st international ISFG congress held in Ponta Delgada, The Azores, Portugal between 13 and 16 September 2005 / ed.: António Amorim, Francisco Corte-Real, Niels Morling - Amsterdam [u.a.]: Elsevier, 2006 . - 2006, S. 682-684

2005

Buchbeitrag

Mohnike, Klaus; Cagnoli, M.; Knye, K.

Grundzüge der Therapie im Kindesalter.
In:

Buchbeitrag

Mohnike, Klaus; Cagnoli, M.; Empting, Susann

Zur Geschichte des Phosphatdiabetes.
In:

Originalartikel in begutachteter internationaler Zeitschrift

Hertel, N.; Ekloef, O.; Ivarsson, S.; Mohnike, Klaus; Neumeyer, L.

}... Growth hormone treatment in 35 prepubertal children with achondroplasia : a five-year dose- response trial.
In:

Originalartikel in begutachteter internationaler Zeitschrift

Ledig, Susanne; Jakubiczka, Sybille; Neulen, J.; Aulepp, U.; Burck Lehmann, U.; Mohnike, Klaus; Thiele, H.; Zierler, H.; Brewer, C.; Wieacker, Peter

Novel and recurrent mutations in patients with androgen insensitivity syndromes.
In:

Originalartikel in begutachteter internationaler Zeitschrift

Vorwerk, Peter; Mohnike, Klaus; Wex, Heike; Roehl, Friedrich Wilhelm; Zimmermann, M.; Blum, W.; Mittler, Uwe

Insulin-like growth factor binding protein-2 at diagnosis of childhood acute lymphoblastic leukemia and the prediction of relapse risk.
In:

Originalartikel in begutachteter zeitschriftenartiger Reihe

Aumann, Volker; Lutze, Gerd; Neumann, A.; Mohnike, Klaus; Mittler, Uwe

Proteus syndrome : successful therapy of severe migraine symptoms with low molecular weight heparin.
In:

2004

Buchbeitrag

Mohnike, Klaus; Riebenstahl, O.; Roehl, Friedrich-Wilhelm; Bernhardt, Cordula; Beye, Petra

Wachstum und Gewichtszunahme in den ersten Lebensjahren : Magdeburger Kohorte 1969-77.
In:

Buchbeitrag

Mohnike, Klaus

Vorgeburtliches Wachstum, Schwangerschaftsdauer, Gewicht und Länge bei Geburt.
In:

Originalartikel in begutachteter internationaler Zeitschrift

Bresler, D.; Bruder, J.; Mohnike, Klaus; Fraser, W.; Rowe, P.

Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP) : implications for phosphaturia and rickets.
In:

Originalartikel in begutachteter nationaler Zeitschrift

Knuf, M.; Schmitt, H.J.; Mohnike, Klaus; Zepp, F.; Habermehl, P.; Kampmann, C.; Herden, P.

Tolerability of the Biken acellular pertussis vaccine in adults with or without previous vaccination against pertussis in childhood.
In:

2003

Buchbeitrag

Mohnike, Klaus; Empting, Susann; Roehl, Friedrich-Wilhelm

The Magdeburg clinical studies' network for pediatric diseases.
In:

Buchbeitrag

Mohnike, Klaus

Wachstum und Entwicklungsstörungen.
In:

Buchbeitrag

Lehnert, Hendrik; Allolio, B.; Buhr, H.; Hahn, K.; Mann, B.; Mohnike, Klaus; Weiss, M.

Nebenniere.
In:

2002

Originalartikel in begutachteter internationaler Zeitschrift

Wald, M.; Lawrenz, K.; Luckner, D.; Seimann, R.; Mohnike, Klaus; Schober, E.

Glucagon therapy as a possible cause of erythema necrolyticum migrans in two neonates with persistent hyperinsulinaemic hypoglycaemia.
In:

Originalartikel in begutachteter internationaler Zeitschrift

Vorwerk, Peter; Wex, Heike; Hohmann, B.; Mohnike, Klaus; Schmidt, Uwe; Mittler, Uwe

Expression of components of the IGF signalling system in childhood acute lymphoblastic leukaemia.
In:

Originalartikel in begutachteter nationaler Zeitschrift

Reschke, Kirsten; Klose, Silke; Mohnike, Klaus; Buhtz, Peter; Roessner, Albert; Lehnert, Hendrik

Manifestation eines Cushing-Syndroms und osteoporotischer Frakturen in der Schwangerschaft einer Patientin mit Carney-Komplex.
In:

Leistungen
klinische Studien im Kindesalter (Phase 2 und 3), Mitglied ERN-BOND, Metab-ERN, Endo-ERN, EuRReCa

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