(Q30827417)

26 June 2017

title

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons (English)

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Xavier Estivill i Pallejà

26 June 2017

author

6

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26 June 2017

Marga Nadal

2

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author name string

Miguel Angel Pujana

1

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26 June 2017

Miriam Guitart

3

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26 June 2017

Lluís Armengol

4

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26 June 2017

Mònica Gratacòs

5

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26 June 2017

publication date

1 January 2002

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European Journal of Human Genetics

26 June 2017

published in

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26 June 2017

volume

10

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26 June 2017

issue

1

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26 June 2017

page(s)

26-35

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Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities.

26 June 2017

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

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The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

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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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Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

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21 January 2018

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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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21 January 2018

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Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males

21 January 2018

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

21 January 2018

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7 January 2021

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200760

1 reference

26 June 2017

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