Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
about
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literatureExtradural spinal schwannoma in 12 year old child : a case report.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersClinical and genetic patterns of neurofibromatosis 1 and 2.Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Genetics of neurofibromatosis 1 and the NF1 gene.Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors.Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombinationComprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Emerging genotype-phenotype relationships in patients with large NF1 deletions.A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)The prenatal diagnosis of NF-1 and NF-2.Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic.Childhood overgrowth in patients with common NF1 microdeletions.
P2860
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P2860
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@ast
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@en
type
label
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@ast
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@en
prefLabel
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@ast
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@en
P2093
P2860
P356
P1476
Large de novo DNA deletion in ...... retardation, and dysmorphism.
@en
P2093
P2860
P304
P356
10.1136/JMG.29.10.686
P407
P577
1992-10-01T00:00:00Z