Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
about
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 9qterA 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardationDetection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.Telomeres: a diagnosis at the end of the chromosomes"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Delineation of subtelomeric deletion of the long arm of chromosome 6.Refining the phenotype associated with CASC5 mutation.A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.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.Subtelomeric rearrangements as neutral genomic polymorphisms.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.Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.
P2860
Q21261458-E1AA3DD6-8332-4130-9B57-962101968886Q24804039-C2565B3A-8DFB-4BBC-A5E7-DA37B6D54349Q33276927-B08A146B-BC77-449D-BDB4-A83F5B4C1282Q33405662-B0E4205C-711A-46DB-8FC5-364FD3E9F57BQ35154981-CF7C984E-B311-4329-9FE1-2AA54DF1B5E5Q35771922-BE60E589-A4E4-474B-BF83-B7D0884E9FEDQ35938000-372E0345-8389-49CD-A821-8FC6FD30A75EQ36854087-DBF3BCEF-B4C1-4282-8D07-A78B0FDB8DBAQ37939276-7F5F23C3-F3B7-4ED6-8603-6B92FD81DBB5Q39417013-AEB7ECF4-A8B7-4DA5-8C5F-879FB555ABAFQ47425725-F61DB427-4178-4C43-B077-579F8F3AF436Q49131205-052A0F42-DF89-41F8-AE1C-D7AC0903D307Q51934196-B93D9C22-F2F7-44DA-B596-A46842E0A6CEQ51941319-FBE0F90F-6787-4BD0-B53D-A691CD42702DQ51947088-4C2EF862-EA40-4798-A941-663C9E355512
P2860
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
description
2002 nî lūn-bûn
@nan
2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Automated fluorescent genotypi ...... syndromic mental retardation.
@ast
Automated fluorescent genotypi ...... syndromic mental retardation.
@en
type
label
Automated fluorescent genotypi ...... syndromic mental retardation.
@ast
Automated fluorescent genotypi ...... syndromic mental retardation.
@en
prefLabel
Automated fluorescent genotypi ...... syndromic mental retardation.
@ast
Automated fluorescent genotypi ...... syndromic mental retardation.
@en
P2093
P2860
P50
P356
P1476
Automated fluorescent genotypi ...... c syndromic mental retardation
@en
P2093
F Molinari
M Le Merrer
M Vekemans
M-C de Blois
P2860
P304
P356
10.1136/JMG.39.4.266
P407
P577
2002-04-01T00:00:00Z