Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome (Q35007161)

5 August 2017

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome (English)

1 reference

5 August 2017

Christelle M El Achkar

object named as

Christelle Moufawad El Achkar

4

0 references

Eric M. Morrow

object named as

Eric M Morrow

11

0 references

Annapurna Poduri

10

object named as

Annapurna Poduri

1 reference

5 August 2017

Matthew F Pescosolido

1

1 reference

5 August 2017

David M Stein

2

1 reference

5 August 2017

Michael Schmidt

3

1 reference

5 August 2017

Mark Sabbagh

5

1 reference

5 August 2017

Jeffrey M Rogg

6

1 reference

5 August 2017

Umadevi Tantravahi

7

1 reference

5 August 2017

Rebecca L McLean

8

1 reference

5 August 2017

Judy S Liu

9

1 reference

5 August 2017

19 September 2014

1 reference

5 August 2017

1 reference

5 August 2017

76

1 reference

5 August 2017

4

1 reference

5 August 2017

581-593

1 reference

Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

De novo mutations in epileptic encephalopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Use of World Health Organization and CDC growth charts for children aged 0-59 months in the United States.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

United States head circumference growth reference charts: birth to 21 years

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Seizures and sodium hydrogen exchangers: potential of sodium hydrogen exchanger inhibitors as novel anticonvulsants.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Identifying autism loci and genes by tracing recent shared ancestry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Carbonic anhydrase inhibitors as anticonvulsant agents

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Diversity of the mammalian sodium/proton exchanger SLC9 gene family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

CDC growth charts: United States

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Identification of a mitochondrial Na+/H+ exchanger

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304796

Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24225

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24225

Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24225

Novel SLC9A6 mutations in two families with Christianson syndrome

21 January 2018

1 reference

12 December 2020

Natural history of Christianson syndrome

1 reference

12 December 2020

Angelman syndrome: Mutations influence features in early childhood

1 reference

12 December 2020

Christianson syndrome in a patient with an interstitial Xq26.3 deletion

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.24225

1 reference

5 August 2017

1 reference

5 August 2017

1 reference