(Q34410255)

2 August 2017

0 references

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype (English)

1 reference

2 August 2017

1 reference

Pierre Cacciagli

1

1 reference

2 August 2017

Marie-Reine Haddad

2

1 reference

2 August 2017

Cécile Mignon-Ravix

3

1 reference

2 August 2017

Bilal El-Waly

4

1 reference

2 August 2017

Anne Moncla

5

1 reference

2 August 2017

Chantal Missirian

6

1 reference

2 August 2017

Brigitte Chabrol

7

1 reference

2 August 2017

Laurent Villard

8

1 reference

2 August 2017

language of work or name

1 reference

4 August 2010

1 reference

European Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

18

1 reference

2 August 2017

12

1 reference

2 August 2017

1360-1363

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.126

2 August 2017

0 references

cites work

Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Recent advances in retinoblastoma genetic research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Balanced translocations in mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Genetics and pathophysiology of mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Phosphatidylserine receptor is required for clearance of apoptotic cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

The epidemiology of mental retardation: challenges and opportunities in the new millennium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Differential expression of putative transbilayer amphipath transporters

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002864

9 December 2018

Identifiers

DOI

10.1038/EJHG.2010.126

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference