Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.
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Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsHigh-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 15Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.Molecular mechanisms in Angelman syndrome: a survey of 93 patients.Molecular and cytogenetic studies of the Prader-Willi syndrome.A boy with developmental delay and a maternally inherited deletion in 15q11q13Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageA neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.Fetal environment, epigenetics, and pediatric renal disease.Linkage analysis in familial Angelman syndrome.Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.American Society of Human Genetics presidential address, October 18, 1990Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Molecular and Clinical Aspects of Angelman Syndrome.Understanding the pathogenesis of Angelman syndrome through animal modelsMicroarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsContext-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.Angelman syndrome.Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.
P2860
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P2860
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.
description
1990 nî lūn-bûn
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1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1990年の論文
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1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
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name
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@ast
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@en
type
label
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@ast
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@en
prefLabel
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@ast
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@en
P2093
P2860
P1476
Angelman syndrome: three molec ...... 15q11q13-specific DNA markers.
@en
P2093
J M Graham
R D Nicholls
R E Magenis
P2860
P304
P407
P577
1990-07-01T00:00:00Z