Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.
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Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qterIdentification of SOX3 as an XX male sex reversal gene in mice and humansMolecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsA 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardationGenetic testing in congenital heart disease: A clinical approachbeta-1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocationCryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.The epidemiology of mental retardation: challenges and opportunities in the new millennium.Telomeres: a diagnosis at the end of the chromosomesProspective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)."Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.DNA damage responses in neural cells: Focus on the telomereAbsence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH.A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.Delineation of subtelomeric deletion of the long arm of chromosome 6.SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.Subtelomeric microduplications in three sisters with moderate mental retardation.MLPA subtelomere analysis in Tunisian mentally retarded patients.Involvement of hepatitis B virus X gene (HBx) integration in hepatocarcinogenesis via a recombination of HBx/Alu core sequence/subtelomeric DNA.Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.A novel 5q35.3 subtelomeric deletion syndrome.Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.
P2860
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P2860
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Study of 250 children with idi ...... elomeric chromosome anomalies.
@en
Study of 250 children with idi ...... elomeric chromosome anomalies.
@nl
type
label
Study of 250 children with idi ...... elomeric chromosome anomalies.
@en
Study of 250 children with idi ...... elomeric chromosome anomalies.
@nl
prefLabel
Study of 250 children with idi ...... elomeric chromosome anomalies.
@en
Study of 250 children with idi ...... elomeric chromosome anomalies.
@nl
P2093
P2860
P356
P1476
Study of 250 children with idi ...... elomeric chromosome anomalies.
@en
P2093
Angus Dobbie
Elizabeth Baker
Elizabeth Thompson
Erica Woollatt
Helen J Eyre
Lyn Hinton
Meryl Altree
Peter Thompson
P2860
P304
P356
10.1002/AJMG.10159
P577
2002-02-01T00:00:00Z