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

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

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

http://www.wikidata.org/entity/Q31165084

about

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.Prader-Willi syndrome is caused by disruption of the SNRPN gene Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb High-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 patients Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Molecular mechanisms in Angelman syndrome: a survey of 93 patients.The Prader-Willi syndrome.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 15q11q13 Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Large inv dup(15) chromosome in two generations Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey Familial Prader-Willi syndrome: case report and a literature review.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Rearrangements of chromosome 15 in epilepsy.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Disorders caused by chromosome abnormalities.Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice Linkage analysis in familial Angelman syndrome.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.Pilot studies for proficiency testing using fluorescence in situ hybridization with chromosome-specific DNA probes: a College of American Pathologists/American College of Medical Genetics Program.Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects.The complex genetics in autism spectrum disorders.Benefits and limitations of prenatal screening for Prader-Willi syndrome.Structure and function of the human chromosome 15 imprinting center.Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

P2860

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P2860

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

http://www.wikidata.org/entity/Q31165084

description

1992 nî lūn-bûn

@nan

1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

1992年の論文

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1992年論文

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1992年論文

@zh-hant

1992年論文

@zh-hk

1992年論文

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1992年論文

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1992年论文

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name

Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

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Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

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type

label

Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

@ast

Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

@en

prefLabel

Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

@ast

Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

@en

P1433

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Human Molecular Genetics

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Molecular dissection of the Pr ...... YAC cloning and FISH analysis.

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P2093

Buiting K

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Chinault AC

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Dittrich B

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Greenberg F

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Horsthemke B

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Kuwano A

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Ledbetter SA

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Niikawa N

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Saitoh S

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417-425

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10.1093/HMG/1.6.417

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6

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1363801

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