Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
about
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Autistic symptoms among children and young adults with isodicentric chromosome 15Inv dup(15) supernumerary marker chromosomes.Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.Molecular screening for proximal 15q abnormalities in a mentally retarded population.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Two inv dup(15) chromosomes in a woman with repeated abortions.Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Distinct phenotypes distinguish the molecular classes of Angelman syndromeCytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.The dilemma of diagnostic testing for Prader-Willi syndromeA molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.Uniparental disomy and genome imprinting: an overview.Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.Autism and maternally derived aberrations of chromosome 15q.Genomic screen and follow-up analysis for autistic disorder.Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.
P2860
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P2860
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
description
1993 nî lūn-bûn
@nan
1993 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի սեպտեմբերին 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
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@ast
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@en
type
label
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@ast
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@en
prefLabel
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@ast
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@en
P2093
P2860
P356
P1476
Uniparental disomy explains th ...... small inv dup(15) chromosome.
@en
P2093
Artifoni L
Baccichetti C
Bernasconi F
Franzoni E
Robinson WP
Schinzel AA
Wagstaff J
P2860
P304
P356
10.1136/JMG.30.9.756
P407
P577
1993-09-01T00:00:00Z