Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
about
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndromeMaternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndromePrader-Willi syndrome3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Prader-Willi syndrome is caused by disruption of the SNRPN geneIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbIdentification and characterization of a second melanin-concentrating hormone receptor, MCH-2RGenomic imprinting disorders in humans: a mini-reviewClinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismHigh-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 15Homologous Recombination and Its Role in CarcinogenesisClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsA genetic model for neurodevelopmental diseaseChromosome imbalances associated with epilepsyAn analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLCSmall nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical regionImprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing methodDeletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionSmall 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityExclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpointImprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneGenomic imprinting: review and relevance to human diseases.Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome.Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeMolecular mechanisms in Angelman syndrome: a survey of 93 patients.Molecular and cytogenetic studies of the Prader-Willi syndrome.The Prader-Willi syndrome.Recurrent spontaneous abortions due to a homologous Robertsonian translocation (14q14q).Inv dup(15) supernumerary marker chromosomes.Intrachromosomal triplication of 15q11-q13.A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.A boy with developmental delay and a maternally inherited deletion in 15q11q13Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality surveyAn algorithm for determining the origin of trisomy and the positions of chiasmata from SNP genotype data.Prader-Willi syndrome: current understanding of cause and diagnosis.
P2860
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P2860
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
description
1981 nî lūn-bûn
@nan
1981 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@ast
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@en
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@nl
type
label
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@ast
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@en
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@nl
prefLabel
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@ast
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@en
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@nl
P2093
P1476
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
@en
P2093
Airhart SD
Crawford JD
Ledbetter DH
Riccardi VM
Strobel RJ
P304
P356
10.1056/NEJM198102053040604
P407
P577
1981-02-01T00:00:00Z