Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction (Q47696253)

4 February 2018

title

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction (English)

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4 February 2018

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Stephan Eliez

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4 February 2018

Christopher Phillips

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Christelle Borel

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4 February 2018

author name string

Fanny Cheung

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4 February 2018

Helen Stewart

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David A Koolen

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N Simon Thomas

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Patricia A Jacobs

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Andrew J Sharp

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4 February 2018

publication date

30 May 2012

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4 February 2018

published in

Human Genetics

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volume

131

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issue

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4 February 2018

page(s)

1519-1524

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4 February 2018

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

cites work

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Non-disjunction of chromosome 13.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

A histone H3 methyltransferase controls epigenetic events required for meiotic prophase

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

The landscape of recombination in African Americans

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Fine-scale recombination rate differences between sexes, populations and individuals

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

A common sequence motif associated with recombination hot spots and genome instability in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Mammalian recombination hot spots: properties, control and evolution.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Microduplication and triplication of 22q11.2: a highly variable syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-012-1180-4

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

21 January 2018

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12 December 2020

Non-disjunction of chromosome 18

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12 December 2020

Trisomy 21: association between reduced recombination and nondisjunction

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12 December 2020

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors

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12 December 2020

10.1007/S00439-012-1180-4

Identifiers

DOI

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4 February 2018

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4 February 2018