(Q30497400)

16 October 2017

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family (English)

1 reference

16 October 2017

Mounira Hmani-Aifa

1

1 reference

16 October 2017

Zeineb Benzina

2

1 reference

16 October 2017

Fareeha Zulfiqar

3

1 reference

16 October 2017

Houria Dhouib

4

1 reference

16 October 2017

Amber Shahzadi

5

1 reference

16 October 2017

Abdelmonem Ghorbel

6

1 reference

16 October 2017

Ahmed Rebaï

7

1 reference

16 October 2017

Peter Söderkvist

8

1 reference

16 October 2017

Sheikh Riazuddin

9

1 reference

16 October 2017

William J Kimberling

10

1 reference

16 October 2017

Hammadi Ayadi

11

1 reference

16 October 2017

language of work or name

1 reference

15 October 2008

1 reference

European Journal of Human Genetics

16 October 2017

1 reference

16 October 2017

17

1 reference

16 October 2017

4

1 reference

16 October 2017

474-482

1 reference

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

The early stages of the intracellular transport of membrane proteins: clinical and pharmacological implications

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

The structural basis of G-protein-coupled receptor function and dysfunction in human diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

A comprehensive genetic map of the human genome based on 5,264 microsatellites

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Strategies for multilocus linkage analysis in humans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

A study of retinitis pigmentosa in the city of Birmingham

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Role of cysteine residues in the extracellular domain and exoplasmic loops of the transmembrane domain of the TSH receptor: effect of mutation to serine on TSH receptor activity and response to thyroid stimulating autoantibodies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Avoiding recomputation in linkage analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Usher's syndrome type 3 in Finland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.167

Usher syndrome: correlation between visual field size and maximal ERG response b-wave amplitude

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986209

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

26 November 2018

1 reference

12 December 2020

Progressive visual loss in optic nerve hypoplasia and bilateral microdiscs

1 reference

12 December 2020

Site-directed mutagenesis of the rat m1 muscarinic acetylcholine receptor. Role of conserved cysteines in receptor function

1 reference

12 December 2020

First-cousin matings and congenital heart disease in Saudi Arabia

1 reference

12 December 2020

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

An intramolecular disulfide bond between conserved extracellular cysteines in the gonadotropin-releasing hormone receptor is essential for binding and activation

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.167

1 reference

Dimensions Publication ID

16 October 2017

0 references

1 reference

16 October 2017

1 reference