Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus. (Q35406305)

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3 February 2020

case report

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title

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus (English)

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3 February 2020

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3

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1

Jamal Ghoumid

1 reference

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3 February 2020

Sylvie Manouvrier-Hanu

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object named as

Sylvie Manouvrier-Hanu

1 reference

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3 February 2020

Muriel Holder-Espinasse

10

object named as

Muriel Holder-Espinasse

1 reference

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2

Joris Andrieux

1 reference

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author name string

Sylvie Odent

4

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Nathalie Philippe

5

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3 February 2020

Xavier Zanlonghi

6

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Pascale Saugier-Veber

7

1 reference

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Thomas Bardyn

8

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publication date

8 June 2011

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European Journal of Human Genetics

3 February 2020

published in

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volume

19

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issue

11

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page(s)

1198-1201

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.95

3 February 2020

exact match

0 references

cites work

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Hoxd and Gli3 interactions modulate digit number in the amniote limb

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Molecular models for vertebrate limb development

27 July 2018

1 reference

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Murine developmental control genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

27 July 2018

1 reference

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Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

2q24-q31 deletion: report of a case and review of the literature

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Breakpoints around the HOXD cluster result in various limb malformations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

A dual role for Hox genes in limb anterior-posterior asymmetry.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Protein folding in vivo: unraveling complex pathways

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.95

2q31.2q32.3 deletion syndrome: report of an adult patient

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198150

Control of Hoxd genes' collinearity during early limb development

24 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21654727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21654727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.95

1 reference

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3 February 2020

1 reference

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3 February 2020

1 reference