Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. - Wikidata - wikimedia - TriplyDB

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

http://www.wikidata.org/entity/Q33595781

about

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Autistic symptoms among children and young adults with isodicentric chromosome 15 Inv dup(15) supernumerary marker chromosomes.Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.Molecular screening for proximal 15q abnormalities in a mentally retarded population.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Two inv dup(15) chromosomes in a woman with repeated abortions.Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Distinct phenotypes distinguish the molecular classes of Angelman syndrome Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.The dilemma of diagnostic testing for Prader-Willi syndrome A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.Uniparental disomy and genome imprinting: an overview.Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.Autism and maternally derived aberrations of chromosome 15q.Genomic screen and follow-up analysis for autistic disorder.Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

P2860

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P2860

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

http://www.wikidata.org/entity/Q33595781

description

1993 nî lūn-bûn

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1993 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

1993 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

1993年の論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年论文

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Uniparental disomy explains th ...... small inv dup(15) chromosome.

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Uniparental disomy explains th ...... small inv dup(15) chromosome.

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Journal of Medical Genetics

P1476

Uniparental disomy explains th ...... small inv dup(15) chromosome.

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P2093

Artifoni L

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Aviv H

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Baccichetti C

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Bernasconi F

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Franzoni E

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Robinson WP

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Schinzel AA

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Shih LY

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Suslak L

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Wagstaff J

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P2860

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Uniparental paternal disomy in Angelman's syndrome.

Systematic cloning of human minisatellites from ordered array charomid libraries.

Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

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10.1136/JMG.30.9.756

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9

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30

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