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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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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
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Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
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A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
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Adams-Oliver syndrome caused by mutations of the EOGT gene
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Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
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Eponym - Johanson-Blizzard syndrome
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Johanson-Blizzard syndrome
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Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
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Noonan syndrome and clinically related disorders
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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
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Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
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Le syndrome de Pierson, Michel Pierson
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Vom Noonan-Syndrom bis zur Neurofibromatose - Erkrankungen des RAS-MAPK-Signalweges
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Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
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Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility
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Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Correspondence
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
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Phenotype and natural history in Marshall-Smith syndrome
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Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum
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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
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The face of Noonan syndrome: does phenotype predict genotype
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A restricted spectrum of NRAS mutations causes Noonan syndrome
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Neuro-kardio-fazio-kutane Syndrome - überlappende Phänotypen mit gemeinsamem molekularem Signalweg - interdisziplinäres Betreuungskonzept
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Infantile hypophosphatasie due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
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A restricted spectrum of NRAS mutations causes Noonan Syndrome.
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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
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Genomic duplikation of PTPN11 is an uncommon cause of Noonan syndrome.
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
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Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
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The spectra of clinical phenotypes in aplasia curtis congentia and terminal transverse limb defects.
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Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrom.
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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
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Craniosynostosis in patient with Noonan syndrome caused by germline KRAS mutation.
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Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
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Futher clinical and molecular delineation of the 9q Subtelomeric Deletion _Syndrome syports a major contributation of EHMT1 haploinsufficiency to the core phenotype.
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
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Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report.
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Multiple giant cell lesions in patient with Noonan syndrome and cardio-facio-cutaneous syndrome
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SMARCAL1 mutation; A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
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Genetic and pathogenetic aspects of Noonan syndrome and related disorders
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