Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
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 clusterThe human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionA mouse model for Prader-Willi syndrome imprinting-centre mutationsDisease 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 regionMethylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalitiesA paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeChromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testingImprinting disorders: non-Mendelian mechanisms affecting growth.Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.A model system to study genomic imprinting of human genes.Prader-Willi Syndrome: Clinical and Genetic FindingsEvidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.The dilemma of diagnostic testing for Prader-Willi syndromePrader-Willi syndrome: Methylation study or fluorescence in situ hybridization first?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.Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).Imprinting is also a mechanism for immediate or delayed hemizygous expression of several uniparental haplotypes selected from the genome of each sex.
P2860
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P2860
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
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
@ja
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
@wuu
name
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@ast
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@en
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@nl
type
label
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@ast
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@en
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@nl
prefLabel
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@ast
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@en
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@nl
P2093
P356
P1476
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
@en
P2093
B E Hainline
C G Palmer
M G Butler
R D Nicholls
P304
P356
10.1093/HMG/5.4.517
P407
P577
1996-04-01T00:00:00Z