Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
about
Analysis of chromosome 21 yeast artificial chromosome (YAC) clonesRedox proteomics in selected neurodegenerative disorders: from its infancy to future applications.A contiguous 3-Mb sequence-ready map in the S3-MX region on 21q22.2 based on high- throughput nonisotopic library screenings.Isolation, characterization, and regional mapping of microclones from a human chromosome 21 microdissection libraryGenotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.Overexpression of esterase D in kidney from trisomy 13 fetuses.A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.Down syndrome phenotypes: the consequences of chromosomal imbalance.Williams syndrome associated with complete atrioventricular septal defect.Non congenital heart disease aspects of Down's syndrome.Cytogenetic and molecular studies of Down syndrome individuals with leukemia.Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome populationDown Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies4-Hydroxy-2-nonenal, a reactive product of lipid peroxidation, and neurodegenerative diseases: a toxic combination illuminated by redox proteomics studiesDown syndrome and consanguinity.WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane.Methods for genetic linkage analysis using trisomies.Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.
P2860
Q24679560-A0C5A2D5-5E6E-4C57-9BE5-5738058A99D6Q30446460-DC4AE18F-49D8-4C84-8D1E-BE2B98044A15Q30671252-251F9BB6-DD22-4BF7-81F9-9CA281B5E41EQ33232000-56FD4F03-2385-49CC-A576-4D9425D26B83Q34325983-250D7519-9D63-42B0-8C73-235FCA15934EQ34389384-EF1A360B-94BC-4E4A-A17B-1BE23FD5B8C4Q35194933-ED68F577-D370-4CCD-A8E8-881906C060DEQ35195145-85BFE63B-DB6F-47B4-B988-C5C2901F992BQ35196333-E21477FF-5D3A-4320-BD90-95F445905DF7Q35344729-A24EEF48-B69C-403C-A2DD-B9E89054FE86Q35581127-2AD0E9DF-9308-4538-9618-D17B688E89F4Q35597736-281C9FA7-55BA-4691-B4AA-26386568021BQ35643435-378398C2-67B5-41F2-A260-7EB7E3843EB5Q35889727-C817E6FD-72B6-454C-91CA-48CB33964A2FQ36068173-745FF7DC-3CF7-4E33-8CCA-8C597DEC7757Q36781858-B8DA577E-A7B1-4798-A4C7-1E7CDD47BBDBQ37259226-37D4D2D7-9172-4F01-A398-BF41E2AEE919Q37960537-6AA3739A-7DD5-4B80-87AA-31717BADA766Q41900060-08100306-B788-4099-8BFE-2D6BC001BA89Q42280602-CD053138-B0EC-429B-946D-0C16D8959106Q42743148-FF5B8DD2-8135-4DF2-A96A-F412D1E04016Q55654778-0B3B2CF4-8763-43A3-8A68-AEF339B5B43C
P2860
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
description
1992 nî lūn-bûn
@nan
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին 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
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@ast
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@en
type
label
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@ast
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@en
prefLabel
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@ast
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@en
P2093
P2860
P1476
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
@en
P2093
Disteche CM
Korenberg JR
P2860
P304
P407
P577
1992-02-01T00:00:00Z