(Q42353590)

27 October 2017

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome (English)

1 reference

27 October 2017

5

Delphine Héron

1 reference

27 October 2017

2

Nadia Bahi-Buisson

1 reference

27 October 2017

Yann Fichou

1

1 reference

27 October 2017

Juliette Nectoux

3

1 reference

27 October 2017

Jamel Chelly

4

1 reference

27 October 2017

Laurence Cuisset

6

1 reference

27 October 2017

Thierry Bienvenu

7

1 reference

27 October 2017

27 May 2009

1 reference

European Journal of Human Genetics

27 October 2017

1 reference

27 October 2017

17

1 reference

27 October 2017

11

1 reference

27 October 2017

1378-1380

1 reference

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

27 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

The overlapping spectrum of rett and angelman syndromes: a clinical review

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Angelman syndrome: a review of the clinical and genetic aspects

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Angelman syndrome 2005: updated consensus for diagnostic criteria.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

An epidemiological and aetiological study of children with intellectual disability in Taiwan

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986687

Aetiology in severe and mild mental retardation: a population-based study of Norwegian children

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19471312

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.82

1 reference

Dimensions Publication ID

27 October 2017

0 references

1 reference

27 October 2017

PubMed publication ID

19471312

1 reference