Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
about
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Inv dup(15) supernumerary marker chromosomes.Intrachromosomal triplication of 15q11-q13.Microdeletion syndromes, balanced translocations, and gene mappingAnalysis of chromosome breakage in the Prader-Labhart-Willi syndrome.An anthropometric study of 38 individuals with Prader-Labhart-Willi syndromeDermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings.Prader-Willi syndrome: current understanding of cause and diagnosis.Robinow syndrome: report of two patients and review of literature.Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.The association of Angelman's syndrome with deletions within 15q11-13INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES.Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.A blind prometaphase study of Prader-Willi syndrome: frequency and consistency in interpretation of del 15q.Hypopigmentation in the Prader-Willi syndromeAccurate and superaccurate gene mappingMolecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Pairwise linkage analysis of 11 loci on human chromosome 4.Cytogenetic findings in a prospective series of patients with DiGeorge anomalyOccupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndromeMolecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Understanding the pathogenesis of Angelman syndrome through animal modelsPaternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.Molecular studies of DiGeorge syndrome.Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.Proximal 15q monosomy.AMINO ACID LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS.Prader-Willi syndrome: are there population differences?Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects.Proximal 15q monosomy.
P2860
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P2860
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
description
1982 nî lūn-bûn
@nan
1982 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի մարտին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
name
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@ast
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@en
type
label
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@ast
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@en
prefLabel
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@ast
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@en
P2093
P2860
P1476
Chromosome 15 abnormalities an ...... follow-up report of 40 cases.
@en
P2093
Airhart SD
Ledbetter DH
Mascarello JT
Riccardi VM
Strobel RJ
P2860
P304
P407
P577
1982-03-01T00:00:00Z