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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisNEK1 mutations cause short-rib polydactyly syndrome type majewskiMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesJohanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testingA restricted spectrum of NRAS mutations causes Noonan syndromeNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayThe spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defectsLAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotoniaHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesMutations in GRIP1 cause Fraser syndromeHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeHuman laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesDeficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Germline KRAS mutations cause Noonan syndromeSynaptic activity controls localization and function of CtBP1 via binding to Bassoon and PiccoloStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeHuman pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling.Magnetic resonance lung function--a breakthrough for lung imaging and functional assessment? A phantom study and clinical trial.Johanson-Blizzard syndromeGenetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory.Behavioral and Neural Manifestations of Reward Memory in Carriers of Low-Expressing versus High-Expressing Genetic Variants of the Dopamine D2 Receptor.A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcriptsValenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expressionUbiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.Clinical and Molecular Findings of Tunisian Patients with RASopathies.Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeGoltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapA single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.Noonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
P50
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P50
name
Martin Zenker
@en
Martin Zenker
@nl
type
label
Martin Zenker
@en
Martin Zenker
@nl
prefLabel
Martin Zenker
@en
Martin Zenker
@nl