(Q57162083)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9188657%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 (English)

1 reference

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3 November 2019

main subject

Prader–Willi syndrome

1 reference

based on heuristic

inferred from title

author

Stilianos Antonarakis

7

1 reference

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3 November 2019

author name string

S Eliez

1

1 reference

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3 November 2019

M A Morris

2

1 reference

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3 November 2019

S Dahoun-Hadorn

3

1 reference

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3 November 2019

C D DeLozier-Blanchet

4

1 reference

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3 November 2019

A Gos

5

1 reference

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3 November 2019

P Sizonenko

6

1 reference

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3 November 2019

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9188657%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

3 November 2019

published in

1 reference

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3 November 2019

volume

70

1 reference

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3 November 2019

issue

3

1 reference

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3 November 2019

page(s)

222-228

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Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

3 November 2019

cites work

1 reference

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Chromosome 15 in floppy infants

21 January 2018

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A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes

21 January 2018

1 reference

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Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome

21 January 2018

1 reference

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Prader-Willi syndrome: current understanding of cause and diagnosis

21 January 2018

1 reference

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Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

21 January 2018

1 reference

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

21 January 2018

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Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

21 January 2018

1 reference

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Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

21 January 2018

1 reference

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The Prader-Willi syndrome

21 January 2018

1 reference

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Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

21 January 2018

1 reference

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Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 January 2018

1 reference

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Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

21 January 2018

1 reference

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Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

21 January 2018

1 reference

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Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 January 2018

1 reference

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Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms

21 January 2018

1 reference

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The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

1 reference

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Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

21 January 2018

1 reference

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Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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Hormonal Changes in Puberty II. Correlation of Serum Luteinizing Hormone and Follicle Stimulating Hormone With Stages of Puberty and Bone Age in Normal Girls

21 January 2018

1 reference

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Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

21 January 2018

1 reference

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A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

21 January 2018

1 reference

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Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome

21 January 2018

1 reference

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A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome

21 January 2018

1 reference

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A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome

21 January 2018

1 reference

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Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

21 January 2018

1 reference

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"Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C222%3A%3AAID-AJMG3%3E3.0.CO%3B2-Y

A variety of genetic mechanisms are associated with the Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C222%3A%3AAID-AJMG3%3E3.0.CO%3B2-Y

10.1002/(SICI)1096-8628(19970613)70:3<222::AID-AJMG3>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9188657%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference