A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (Q34366946)

1 August 2017

title

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (English)

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1 August 2017

main subject

nonsyndromic deafness

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7

Thomas B Friedman

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5

Saima Riazuddin

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1

Khushnooda Ramzan

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9

Sheikh Riazuddin

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4

Shaheen N Khan

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2

Rehan S Shaikh

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Jamil Ahmad

3

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Zubair M Ahmed

series ordinal

6

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1 August 2017

Edward R Wilcox

series ordinal

8

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1 August 2017

publication date

6 November 2004

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1 August 2017

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volume

116

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issue

1-2

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page(s)

17-22

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

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cites work

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12 December 2020

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

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12 December 2020

Faster linkage analysis computations for pedigrees with loops or unused alleles.

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12 December 2020

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

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12 December 2020

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

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12 December 2020

Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter

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12 December 2020

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

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12 December 2020

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

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12 December 2020

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

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12 December 2020

Complex phenotype of mice lacking occludin, a component of tight junction strands.

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12 December 2020

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

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12 December 2020

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

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12 December 2020

The gene for an inherited form of deafness maps to chromosome 5q31

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12 December 2020

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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12 December 2020

A mutation in PDS causes non-syndromic recessive deafness

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12 December 2020

The prevalence and demographic characteristics of consanguineous marriages in Pakistan

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12 December 2020

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

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12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

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12 December 2020

A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

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12 December 2020

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

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12 December 2020

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

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12 December 2020

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

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12 December 2020

Nonsyndromic hearing impairment: unparalleled heterogeneity

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12 December 2020

Human Nonsyndromic Sensorineural Deafness

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12 December 2020

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

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12 December 2020

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

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12 December 2020

The molecular genetics of Usher syndrome

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12 December 2020

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

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12 December 2020

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

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12 December 2020

10.1007/S00439-004-1205-8

Identifiers

DOI

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Dimensions Publication ID

1 August 2017

1023542055

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