(Q50310124)

2 March 2018

title

A family with a grand-maternally derived interstitial duplication of proximal 15q. (English)

1 reference

2 March 2018

author name string

Boyar FZ

1

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2 March 2018

Whitney MM

2

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2 March 2018

Lossie AC

3

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2 March 2018

Gray BA

4

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2 March 2018

Keller KL

5

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2 March 2018

Stalker HJ

6

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2 March 2018

Zori RT

7

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2 March 2018

Geffken G

8

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2 March 2018

Mutch J

9

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2 March 2018

Edge PJ

10

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2 March 2018

Voeller KS

11

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2 March 2018

Williams CA

12

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2 March 2018

Driscoll DJ

13

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2 March 2018

publication date

1 December 2001

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2 March 2018

published in

Clinical Genetics

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2 March 2018

volume

60

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2 March 2018

issue

6

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2 March 2018

page(s)

421-430

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2 March 2018

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

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Autism and maternally derived aberrations of chromosome 15q.

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Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

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Absence of predictable phenotypic expression in proximal 15q duplications

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21 January 2018

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21 January 2018

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Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

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A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

21 January 2018

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A genomic screen of autism: evidence for a multilocus etiology

21 January 2018

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Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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7 January 2021

Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

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7 January 2021

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

1 reference

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7 January 2021

PW71 methylation test for Prader-Willi and Angelman syndromes

1 reference

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7 January 2021

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600604.X

7 January 2021

Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600604.X

7 January 2021

10.1034/J.1399-0004.2001.600604.X

Identifiers

DOI

1 reference

2 March 2018

release_iyyut2kdbjet3ndrqjahwxek7e

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/iyyut2kdbjet3ndrqjahwxek7e

24 November 2022

mapped directly with Wikidata item

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2 March 2018