MITTELDEUTSCHES KOMPETENZNETZ SELTENE ERKRANKUNGEN

Prof. Dr. med. Klaus Mohnike

Leiter des MKSE
Universitätskinderklinik, UMMD

Prof. Dr. med. Klaus Mohnike

Publikationen

2023

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.

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;  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.

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

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.

2022

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

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

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

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

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

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

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.

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

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.

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

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

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.

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.

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.

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.

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

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.

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

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

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

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

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

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

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

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

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.

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.

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.

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

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

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.

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

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

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

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

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.

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.

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.

Buchbeitrag

Mohnike, Klaus 

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

2020

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

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

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.

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.

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> - London [u.a.] : Elsevier, Bd. 396 (2020), Heft 10252, S. 684-692

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

2019

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

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

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

Mohnike, Klaus 

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

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

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

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.

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.

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)

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

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

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.

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.

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

Mohnike, Klaus 

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

Mohnike, Klaus 

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

2018

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

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

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 / Society for the Study of Inborn Errors of Metabolism - Dordrecht: Springer, Bd. 41.2018, Suppl. 1, P-453, S. S215

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

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

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

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

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.

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

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

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

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.

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

2017

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

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

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

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

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

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

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

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

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.

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

2016

Begutachteter Zeitschriftenartikel

Mohnike, Klaus 

Absolute Raritäten
In: Deutsches Ärzteblatt international : a weekly online journal of clinical medicine and public health. - Köln : Dt. Ärzte-Verl, Bd. 113.2016, 27/28, S. 487

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.

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

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

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

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

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

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.

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

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

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

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

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

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, 2014, S. , ISSN 1663-2826, 10.1159/000356905

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

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

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

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

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 &amp;amp; Co. KG, Bd. 80 (2013), 4, S. 551-558

Buchbeitrag

Mohnike, Klaus;  Vaupel, Nora 

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

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

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

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

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

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

Barthlen, Winfried;  Mohnike, Wolfgang;  Mohnike, Klaus 

Techniques in pediatric surgery: congenital hyperinsulinism
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 75.2011, 4, S. 304-310

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 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

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

Barthlen, Winfried;  Mohnike, Wolfgang;  Mohnike, Klaus 

Techniques in pediatric surgery: congenital hyperinsulinism
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 74.2010, 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

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

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 &amp;amp; metabolism: JCEM ; official journal of the Endocrine Society - Chevy Chase, Md.: Endocrine Society, Bd. 93 (2008), 3, S. 869-875

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

Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon
In: Hormone research: from developmental endocrinology to clinical research ; official organ of the European Society for Paediatric Endocrinology - Basel: Karger, Bd. 70 (2008), 1, S. 59-64

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

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

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

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

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 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

Mohnike, Klaus 

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

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 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.

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

Zur Geschichte des Phosphatdiabetes.

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.

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.

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.

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.

2004

Buchbeitrag

Mohnike, Klaus 

Vorgeburtliches Wachstum, Schwangerschaftsdauer, Gewicht und Länge bei Geburt.

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

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

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.

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.

2003

Buchbeitrag

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

Nebenniere.

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

The Magdeburg clinical studies' network for pediatric diseases.

Mohnike, Klaus 

Wachstum und Entwicklungsstörungen.

2002

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.

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.

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.

Letzte Änderung: 11.07.2022 - Ansprechpartner:

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