(Q36881902)

16 August 2017

Identification of candidate regions for a novel Usher syndrome type II locus (English)

1 reference

16 August 2017

1 reference

13

Miikka Vikkula

1 reference

16 August 2017

Imen Ben Rebeh

1

1 reference

16 August 2017

Zeineb Benzina

2

1 reference

16 August 2017

Houria Dhouib

3

1 reference

16 August 2017

Imen Hadjamor

4

1 reference

16 August 2017

Mustapha Amyere

5

1 reference

16 August 2017

Leila Ayadi

6

1 reference

16 August 2017

Khalil Turki

7

1 reference

16 August 2017

Bouthaina Hammami

8

1 reference

16 August 2017

Noureddine Kmiha

9

1 reference

16 August 2017

Hassen Kammoun

10

1 reference

16 August 2017

Bochra Hakim

11

1 reference

16 August 2017

Ilhem Charfedine

12

1 reference

16 August 2017

Abdelmonem Ghorbel

14

1 reference

16 August 2017

Hammadi Ayadi

15

1 reference

16 August 2017

Saber Masmoudi

16

1 reference

16 August 2017

19 September 2008

1 reference

16 August 2017

1 reference

16 August 2017

14

1 reference

16 August 2017

1719-1726

1 reference

Gene mutations in retinitis pigmentosa and their clinical implications

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Myosin-I isozymes in neonatal rodent auditory and vestibular epithelia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

At the speed of sound: gene discovery in the auditory system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

A millennial myosin census

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Enhanced genome annotation using structural profiles in the program 3D-PSSM

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Main-chain bond lengths and bond angles in protein structures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Comparative protein modelling by satisfaction of spatial restraints

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Crystal structure at 2.2 A resolution of the pleckstrin homology domain from human dynamin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Structure of the binding site for inositol phosphates in a PH domain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Q-SiteFinder: an energy-based method for the prediction of protein-ligand binding sites

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

From DFNB2 to Usher syndrome: variable expressivity of the same disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538493

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18806881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

16 August 2017

PubMed publication ID

18806881

1 reference