Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. - Wikidata - awgldk - TriplyDB

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

http://www.wikidata.org/entity/Q34314269

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Parent-offspring conflict and the persistence of pregnancy-induced hypertension in modern humans myKaryoView: a light-weight client for visualization of genomic data Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome An imprinted, mammalian bicistronic transcript encodes two independent proteins Prader-Willi syndrome Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain The imprinting mechanism of the Prader-Willi/Angelman regional control center.Prader-Willi syndrome is caused by disruption of the SNRPN gene The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene Angelman syndrome: a review of the clinical and genetic aspects Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting Prader-Willi and Angelman syndromes: sister imprinted disorders Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method A mouse model for Prader-Willi syndrome imprinting-centre mutations Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint The expression of the imprinted H19 and IGF-2 genes in human bladder carcinoma Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Karyotype, phenotype and parental origin in 19 cases of triploidy.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region Genomic imprinting: implications for human disease.Allele-specific non-CG DNA methylation marks domains of active chromatin in female mouse brain.Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome.Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.The mechanisms involved in formation of deletions and duplications of 15q11-q13.A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.Molecular screening for proximal 15q abnormalities in a mentally retarded population.Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.Sex-based differences in gene transmission and gene expression.

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

http://www.wikidata.org/entity/Q34314269

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1995 nî lūn-bûn

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1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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1995 թվականի ապրիլին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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Nature Genetics

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Inherited microdeletions in th ...... centre on human chromosome 15.

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Buiting K

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Dittrich B

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Gross S

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Horsthemke B

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Nicholls RD

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Saitoh S

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Schwartz S

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P2860

DNA methylation and genomic imprinting.

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.

Allele-specific replication timing of imprinted gene regions.

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints.

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

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395-400

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10.1038/NG0495-395

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7795645

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