Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.
about
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical regionIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbThe tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patientsLocalization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Prader-Willi syndrome: current understanding of cause and diagnosis.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.A DraI RFLP detected for probe pIR4-3R [D15S11] on chromosome 15q.A BsaBI RFLP detected for probe pML34 [D15S9] on chromosome 15q.BanI polymorphism at the XBP1 locus.StyI polymorphism at the D15S11 locus.Three allele TaqI RFLP for probe 3-21 [D15S10] on chromosome 15qRFLPs for beta 2-microglobulin.Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.Angelman's syndrome, abnormality of 15q11-13, and imprinting.Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?
P2860
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P2860
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@ast
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@en
type
label
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@ast
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@en
prefLabel
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@ast
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@en
P2093
P356
P1476
Quantitative calibration and u ...... in the Prader-Willi syndrome.
@en
P2093
Graham JM Jr
Nicholls RD
Tantravahi U
Wurster-Hill D
P356
10.1002/AJMG.1320330110
P577
1989-05-01T00:00:00Z