Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Item
http://www.wikidata.org/entity/Q35194073
Physical mapping of the holoprosencephaly critical region in 18p11.3Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defectsBeckwith-Wiedemann syndrome in a child with chromosome 18q deletionA new deletion of 18q23 with few typical features of the 18q- syndrome.Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGHSensorineural hearing loss in people with deletions of 18q: hearing in 18q-.Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18Molecular characterization of patients with 18q23 deletions.The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 regionTourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.Interstitial deletions are not the main mechanism leading to 18q deletions.Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.Terminal 18q deletions are stabilized by neotelomeresLow-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and dicentric ring chromosome 18.
P2860
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P2860

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Item
http://www.wikidata.org/entity/Q35194073
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
@ast
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
@en
type
label
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
@ast
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
@en
prefLabel
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
@ast
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P4510
P478
P577
P698
P921
P932
P1433
P1476
Molecular analysis of the 18q- syndrome--and correlation with phenotype
@en
P2093
P2860
P304
P31
P407
P433
P4510
P478
P577
P698
P921
P932