Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesSensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastomaGermline mosaicism in X-linked myotubular myopathyNeutrophil elastase mutations in congenital neutropeniaMechanisms and consequences of somatic mosaicism in humansGenetic mosaics and the germ line lineageGenetics beyond Mendel. Understanding nontraditional inheritance patterns.HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.Genes and environment: effects on the development of second malignancies in retinoblastoma survivors.Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counsellingEnhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing.Somatic mosaicism in hemophilia A: a fairly common event.Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypesMeiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.In vivo reversion to normal of inherited mutations in humans.Retinoblastoma genetics in India: From research to implementation.Independent genetic events associated with the development of multiple parathyroid tumors in patients with primary hyperparathyroidism.At-risk populations for osteosarcoma: the syndromes and beyond.A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityNext generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicismRetinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously.Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.Molecular genetics of RB1--the retinoblastoma gene.Understanding what determines the frequency and pattern of human germline mutations.Origin of mutation in sporadic cases of severe haemophilia A in Sweden.Mutational analysis of the RB1 gene in Indian patients with retinoblastoma.Sarcoma and familial retinoblastoma.A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Mosaicism and prenatal diagnosis options: insights from retinoblastoma.Detection of APC mosaicism by next-generation sequencing in an FAP patient.Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.Mosaicism in von Hippel-Lindau disease with severe renal manifestations.Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.
P2860
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P2860
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Frequency of somatic and germ- ...... ations for genetic counseling.
@ast
Frequency of somatic and germ- ...... ations for genetic counseling.
@en
Frequency of somatic and germ- ...... ations for genetic counseling.
@nl
type
label
Frequency of somatic and germ- ...... ations for genetic counseling.
@ast
Frequency of somatic and germ- ...... ations for genetic counseling.
@en
Frequency of somatic and germ- ...... ations for genetic counseling.
@nl
prefLabel
Frequency of somatic and germ- ...... ations for genetic counseling.
@ast
Frequency of somatic and germ- ...... ations for genetic counseling.
@en
Frequency of somatic and germ- ...... ations for genetic counseling.
@nl
P2093
P2860
P356
P1476
Frequency of somatic and germ- ...... cations for genetic counseling
@en
P2093
J Sutherland
K C Sippel
M E Schalkoff
P2860
P304
P356
10.1086/301766
P407
P577
1998-03-01T00:00:00Z