(Q52092801)

22 April 2018

title

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. (English)

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22 April 2018

7

Sandrine Passemard

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22 April 2018

10

Alain Verloes

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22 April 2018

9

Séverine Drunat

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22 April 2018

Clarisse Baumann

5

object named as

Clarisse Baumann

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22 April 2018

Yline Capri

8

object named as

Yline Capri

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22 April 2018

author name string

Jonathan Lévy

1

1 reference

22 April 2018

Aurélie Coussement

2

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22 April 2018

Céline Dupont

3

1 reference

22 April 2018

Fabien Guimiot

4

1 reference

22 April 2018

Géraldine Viot

6

1 reference

22 April 2018

Eva Pipiras

11

1 reference

22 April 2018

Brigitte Benzacken

12

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22 April 2018

Jean-Michel Dupont

13

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22 April 2018

Anne-Claude Tabet

14

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22 April 2018

language of work or name

English

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publication date

1 June 2017

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22 April 2018

American Journal of Medical Genetics

published in

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22 April 2018

volume

173

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22 April 2018

issue

8

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22 April 2018

page(s)

2081-2087

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22 April 2018

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

CRM1-mediated nuclear export: to the pore and beyond.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

A novel nuclear human poly(A) polymerase (PAP), PAP gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

The novel GTPase Rit differentially regulates axonal and dendritic growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Agenesis of the corpus callosum: a clinical approach to diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

The ubiquitin specific protease USP34 promotes ubiquitin signaling at DNA double-strand breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38302

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38302

1 reference

22 April 2018

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22 April 2018