A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
about
Genomic disorders on 22q11Jacobsen syndrome.Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.Palindrome-mediated chromosomal translocations in humans.AT-rich palindromes mediate the constitutional t(11;22) translocation.Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.Genomic determinants of somatic copy number alterations across human cancers.Molecular cytogenetic insights into the ageing syndrome Hutchinson-Gilford Progeria (HGPS).Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.Non-Robertsonian translocation t (2;11) is associated with infertility in an oligospermic man.Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
P2860
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P2860
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A common breakpoint on 11q23 in carriers of the constitutional t
@nl
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@ast
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@en
type
label
A common breakpoint on 11q23 in carriers of the constitutional t
@nl
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@ast
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@en
prefLabel
A common breakpoint on 11q23 in carriers of the constitutional t
@nl
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@ast
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@en
P2093
P2860
P356
P1476
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
@en
P2093
B E Morrow
D Blumenthal
L Edelmann
L G Shaffer
R Goldberg
R K Pandita
P2860
P304
P356
10.1086/302689
P407
P577
1999-12-01T00:00:00Z