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

5 August 2017

title

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

1 reference

5 August 2017

author

Christelle M El Achkar

object named as

Christelle Moufawad El Achkar

4

0 references

Eric M. Morrow

object named as

Eric M Morrow

11

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Annapurna Poduri

10

object named as

Annapurna Poduri

1 reference

5 August 2017

author name string

Matthew F Pescosolido

1

1 reference

5 August 2017

David M Stein

2

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5 August 2017

Michael Schmidt

3

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5 August 2017

Mark Sabbagh

5

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5 August 2017

Jeffrey M Rogg

6

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5 August 2017

Umadevi Tantravahi

7

1 reference

5 August 2017

Rebecca L McLean

8

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5 August 2017

Judy S Liu

9

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5 August 2017

publication date

19 September 2014

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5 August 2017

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5 August 2017

volume

76

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5 August 2017

issue

4

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5 August 2017

page(s)

581-593

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

5 August 2017

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

8 July 2018

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

8 July 2018

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

8 July 2018

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

8 July 2018

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

8 July 2018

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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

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8 July 2018

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

8 July 2018

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A method and server for predicting damaging missense mutations

8 July 2018

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8 July 2018

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

8 July 2018

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

8 July 2018

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

8 July 2018

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

8 July 2018

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8 July 2018

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

8 July 2018

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Identifying autism loci and genes by tracing recent shared ancestry

8 July 2018

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

8 July 2018

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8 July 2018

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

8 July 2018

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Diversity of the mammalian sodium/proton exchanger SLC9 gene family

8 July 2018

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8 July 2018

1 reference

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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

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Identification of a mitochondrial Na+/H+ exchanger

8 July 2018

1 reference

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

8 July 2018

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8 July 2018

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

8 July 2018

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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

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

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

21 January 2018

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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