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Genetics of Hearing Loss: Syndromic
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
title
Genetics of Hearing Loss: Syndromic
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
main subject
hearing loss
1 reference
based on heuristic
inferred from title
author
Karen Avraham
object named as
Karen B Avraham
series ordinal
3
0 references
author name string
Tal Koffler
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
Kathy Ushakov
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
publication date
3 October 2015
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
published in
Otolaryngologic Clinics of North America
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
volume
48
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
page(s)
1041-1061
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
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Hearing impairment in Stickler syndrome: a systematic review
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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
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Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
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SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
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Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
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The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome
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30 September 2017
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
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30 September 2017
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
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30 September 2017
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
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Genetic screening for hearing loss.
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30 September 2017
Structure and innervation of the cochlea
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30 September 2017
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
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30 September 2017
SLUG (SNAI2) deletions in patients with Waardenburg disease
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30 September 2017
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations
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30 September 2017
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
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30 September 2017
Molecular genetics of hearing loss
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30 September 2017
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
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30 September 2017
Initial sequencing and analysis of the human genome
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30 September 2017
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
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30 September 2017
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
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30 September 2017
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
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30 September 2017
Retinitis pigmentosa: defined from a molecular point of view
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30 September 2017
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
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30 September 2017
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
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30 September 2017
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
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30 September 2017
KCNE1 mutations cause jervell and Lange-Nielsen syndrome
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30 September 2017
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
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30 September 2017
Waardenburg syndrome
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30 September 2017
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
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30 September 2017
Usher syndrome in the city of Birmingham--prevalence and clinical classification
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30 September 2017
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
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30 September 2017
Pendred syndrome
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30 September 2017
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
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30 September 2017
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Defective myosin VIIA gene responsible for Usher syndrome type 1B
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
30 September 2017
An update on the genetics of usher syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
29 June 2018
Stickler's syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
29 June 2018
Hearing loss and Waardenburg's syndrome: implications for genetic counselling.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
29 June 2018
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Rescue from hearing loss in Usher's syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
The genetics of deafness
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
The fundamental and medical impacts of recent progress in research on hereditary hearing loss.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Uses and abuses of hearing loss classification.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4641804
retrieved
22 September 2018
Stickler syndrome: clinical characteristics and diagnostic criteria
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26443487
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26443487
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.OTC.2015.07.007
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
PMCID
4641804
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
PubMed ID
26443487
1 reference
stated in
Europe PubMed Central
PMCID
4641804
retrieved
13 August 2017
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