Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
about
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndromeAn imprinted, mammalian bicistronic transcript encodes two independent proteinsPrader-Willi syndrome is caused by disruption of the SNRPN genePrader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterGenetics of Prader-Willi syndrome and Prader-Will-Like syndromeThe human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionDisease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionA rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeNovel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.Snord116 is critical in the regulation of food intake and body weightPrader-Willi Syndrome: Clinical and Genetic FindingsEvidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.How many breaks do we need to CATCH on 22q11?Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
P2860
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P2860
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
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1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
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name
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@ast
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@en
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@nl
type
label
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@ast
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@en
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@nl
prefLabel
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@ast
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@en
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@nl
P2093
P2860
P3181
P356
P1433
P1476
Exclusion of SNRPN as a major ...... by a translocation breakpoint
@en
P2093
D H Ledbeter
K Brøndum-Nielsen
P2860
P2888
P3181
P356
10.1038/NG0496-452
P407
P577
1996-04-01T00:00:00Z
P5875
P6179
1034322387