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Systematische Analyse von microRNA als potenzielle Biomarker im Stuhl und ein neuer Ansatz zur endogenen miRNA-Normalisierung
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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
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AKT/mTOR and MAPK inhibition improves childhood RASopathic cardiomyopathy
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Noonan syndrome patients with short stature at a single pediatric endocrinology centre
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
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Neurofibromatosis type 1 with cherubism-like phenotype, multiple osteolytic bone lesions of lower extremities, and Alagille-syndrome - case report with literature survey
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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
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The mosaic hedgehog spectrum - another lesson on the polymorphy of mosaicism
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Development, behaviour and sensory processing in MarshallSmith syndrome and Malan syndrome - phenotype comparison in two related syndromes
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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
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Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
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Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
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Unravelling the genetic architecture in an extensive cohort of Adams-Oliver syndrome patients
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Activating mutations of RRAS2 are a rare cause of Noonan syndrome
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ADA2 deficiency in a patient with Noonan syndromelike disorder with loose anagen hair - the cooccurrence of two rare syndromes
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Adams-Oliver syndrome caused by mutations of the EOGT gene
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Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
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Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children
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Genetic basis of hypertrophic cardiomyopathy in children
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Identifying facial phenotypes of genetic disorders using deep learning
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A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
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Cubilin single nucleotide polymorphism variants are associated with macroangiopathy while a matrix metalloproteinase-9 single nucleotide polymorphism flip-flop may indicate susceptibility of diabetic nephropathy in type-2 diabetic patients
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Food-derived xeno-microRNAs - influence of diet and detectability in gastrointestinal tract : proof-of-principle study
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Galloway-Mowat syndrome in Taiwan - OSGEP mutation and unique clinical phenotype
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Skeletal impairment in Pierson syndrome - is there a role for laminin[beta]2 in bone physiology?
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Eponym - Johanson-Blizzard syndrome
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Johanson-Blizzard syndrome
In: World journal of gastroenterology. - Beijing : WJG Press [u.a.], Bd. 17.2011, 37, S. 4247-4250

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
In: American journal of medical genetics. - Hoboken, NJ : Wiley-LissAmerican journal of medical genetics / A, Bd. 155.2011, 10, S. 2601-2604

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling
In: Genetic counseling. - Genève : Ed. Médecine et Hygiène, Bd. 22.2011, 3, S. 233-244

NEK1 mutations cause short-rib polydactyly syndrome type Majewski
In: American journal of human genetics - New York, NY [u.a.] : Cell Press, Bd. 88 (2011), Heft 1, S. 106-114

Vom Noonan-Syndrom bis zur Neurofibromatose - Erkrankungen des RAS-MAPK-Signalweges
In: Pädiatrische Praxis. - München : Marseille, Bd. 77.2011, 2, S. 333-350

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
In: Nature genetics - New York, NY: Springer Nature, Bd. 42 (2010), Heft 11, S. 1021-1026, insges. 6 S.

Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility
In: International urology and nephrology - Dordrecht [u.a.]: Springer Science + Business Media B.V., Bd. 42 (2010), 4, S. 1131-1134

Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Correspondence
In: Blood: the journal of hematology / American Society of Hematology. William Dameshek, founding ed. - Washington, DC: American Society of Hematology, Bd. 115 (2010), Heft 4, S. 913

Phenotype and natural history in Marshall-Smith syndrome
In: American journal of medical genetics / A - Hoboken, NJ: Wiley-Liss, Bd. 152 (2010), Heft 11, S. 2714-2726

Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum
In: Human mutation: variation, databases, and disease / Human Genome Variation Society - Hoboken, NJ: Wiley-Blackwell, Bd. 31 (2010), Heft 9, S. 992-1002

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 53 (2010), Heft 5, S. 322-324

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
In: American journal of human genetics: AJHG / American Society of Human Genetics - New York, NY [u.a.]: Cell Press, Bd. 87 (2010), Heft 2, S. 250-257

The face of Noonan syndrome: does phenotype predict genotype
In: American journal of medical genetics / A - Hoboken, NJ: Wiley-Liss, Bd. 152 (2010), Heft 8, S. 1960-1966

A restricted spectrum of NRAS mutations causes Noonan syndrome
In: Nature genetics - New York, NY: Springer Nature, Bd. 42 (2010), Heft 1, S. 27-29

Neuro-kardio-fazio-kutane Syndrome - überlappende Phänotypen mit gemeinsamem molekularem Signalweg - interdisziplinäres Betreuungskonzept
In: Medizinische Genetik: Organ der Deutschen Gesellschaft für Humangenetik e.V. - Berlin: de Gruyter, Bd. 22 (2010), Heft 1, S. 10-19

Infantile hypophosphatasie due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
In: Exp Clin Endocrinol Diabetes

A restricted spectrum of NRAS mutations causes Noonan Syndrome.
In: Nat Genet. Epub 2009 Dec 6.

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
In: Am J. Med Genet A. 2009; 149A:2236-40

Genomic duplikation of PTPN11 is an uncommon cause of Noonan syndrome.
In: Am J Med Genet A. 2009; 149A:2122-8.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
In: Nat Genet. 2009; 41:1022-6

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
In: J Mol Med. 2009; 87:849-57.

The spectra of clinical phenotypes in aplasia curtis congentia and terminal transverse limb defects.
In: Am J Med Gent A. 2009; 149A:1860-81.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrom.
In: Am J Med Gent A. 2009; 149A:1263-7.

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
In: Eur J Med Gent. 2009; 52:337-40.

Craniosynostosis in patient with Noonan syndrome caused by germline KRAS mutation.
In: Am J Med Gener A. 2009; 149A: 1036-40

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
In: Êur. J Hum Geneti. 2009; 17:1207-15.

Futher clinical and molecular delineation of the 9q Subtelomeric Deletion _Syndrome syports a major contributation of EHMT1 haploinsufficiency to the core phenotype.
In: J Med Gent. 2009; 46:598-606

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
In: Eur J Hum Genet. 2009; 17:395-400.

Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report.
In: Cases J 2009; 2:94.

SMARCAL1 mutation; A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
In: Pediatr Res. 2009; 65:564-8

Multiple giant cell lesions in patient with Noonan syndrome and cardio-facio-cutaneous syndrome
In: Eur J Hum Genet.

Genetic and pathogenetic aspects of Noonan syndrome and related disorders
In: Hormone research - Basel : Karger - Bd. 72.2009, Suppl. 2, S. 57-63