(Q51919650)

English

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

scientific article published in January 2010

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Sandrine Passemard

8

object named as

Sandrine Passemard

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

9

object named as

Alain Verloes

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

Séverine Drunat

6

object named as

Séverine Drunat

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

author name string

Laila Rifai

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Marylin Port-Lis

2

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Anne-Claude Tabet

3

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Isabelle Bailleul-Forestier

4

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Brigitte Benzacken

5

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Suzanne Kuzbari

7

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Azzedine Aboura

10

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

language of work or name

0 references

publication date

1 January 2010

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

152A

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

111-117

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Neurological involvement in a child with the wrinkly skin syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

A locus for isolated cleft palate, located on human chromosome 2q32

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Reassessing the Dlx code: the genetic regulation of branchial arch skeletal pattern and development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Identification of SATB2 as the cleft palate gene on 2q32-q33.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Identification and characterization of TMEFF2, a novel survival factor for hippocampal and mesencephalic neurons

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Evx2-Hoxd13 intergenic region restricts enhancer association to Hoxd13 promoter

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33164

21 January 2018

Identifiers

10.1002/AJMG.A.33164

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20034071

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q51919650&oldid=2061098193"