Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
about
Cri du Chat syndromeThe linear ubiquitin-specific deubiquitinase gumby regulates angiogenesisHigh-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridizationDeletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndromeA conserved ubiquitin ligase of the nuclear envelope/endoplasmic reticulum that functions in both ER-associated and Matalpha2 repressor degradationThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome5p deletions: Current knowledge and future directions.Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCRCytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patientPreferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.Disorders caused by chromosome abnormalities.A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.Telomeres: a diagnosis at the end of the chromosomesRare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesCri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.Are children of older fathers at risk for genetic disorders?Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.Retrospective karyotype study in mentally retarded patients.DNA methylation alterations in the genome of a toddler with cri-du-chat syndrome.Cri du Chat syndrome: a case report.Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome.
P2860
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P2860
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Clinical and molecular charact ...... genotype-phenotype correlation
@ast
Clinical and molecular charact ...... genotype-phenotype correlation
@en
Clinical and molecular charact ...... genotype-phenotype correlation
@nl
type
label
Clinical and molecular charact ...... genotype-phenotype correlation
@ast
Clinical and molecular charact ...... genotype-phenotype correlation
@en
Clinical and molecular charact ...... genotype-phenotype correlation
@nl
prefLabel
Clinical and molecular charact ...... genotype-phenotype correlation
@ast
Clinical and molecular charact ...... genotype-phenotype correlation
@en
Clinical and molecular charact ...... genotype-phenotype correlation
@nl
P2093
P2860
P3181
P356
P1476
Clinical and molecular charact ...... genotype-phenotype correlation
@en
P2093
F D Bricarelli
G Coucourde
J Overhauser
M Pierluigi
P C Mainardi
P2860
P3181
P356
10.1136/JMG.38.3.151
P407
P577
2001-03-01T00:00:00Z