Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
about
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originMinor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's HospitalFamilial multiple basaloid follicular hamartomas: A report of two affected sisters.The NF1 somatic mutational landscape in sporadic human cancers.Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.Germ-line mosaicism in tuberous sclerosis: how common?Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.Acantholytic dyskeratotic naevi following Blaschko's lines: a mosaic form of Darier's disease.Ophthalmological manifestations in segmental neurofibromatosis type 1Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.Somatic mosaicism in a patient with neurofibromatosis type 1.Von recklinghausen neurofibromatosis-pachydermatocele causing lower limb gigantism: a case report.De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Mutations, malformations and mortality.Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?The factor IX gene as a model for analysis of human germline mutations: an update.Neurofibromatosis type 1--an update and review for the primary pediatrician.Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.Do NF1 gene deletions result in a characteristic phenotype?Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.Neurofibromatosis type 1A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism
P2860
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P2860
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
description
im November 1994 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 1994
@uk
name
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@en
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@nl
type
label
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@en
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@nl
prefLabel
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@en
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@nl
P2093
P1476
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
@en
P2093
Anna Ravella
Antonia Gaona
Conxi Lazaro
Victor Volpini
P304
P356
10.1056/NEJM199411243312102
P407
P577
1994-11-24T00:00:00Z