(Q57339572)

1

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C. Place

2

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N. Salem

3

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S. Chardenoux

4

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C. Vincent

5

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J. Weissenbach

6

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E. El-Zir

7

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J. Loiselet

8

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H Chaïb

1

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C Place

2

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N Salem

3

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S Chardenoux

4

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C Vincent

5

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J Weissenbach

6

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E El-Zir

7

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J Loiselet

8

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C Petit

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

9

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language of work or name

English

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publication date

1 January 1996

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January 1996

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published in

Human Molecular Genetics

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volume

5

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issue

1

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page(s)

155-158

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155-8

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Genetic counseling of the deaf. Medical and cultural considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

A type VII myosin encoded by the mouse deafness gene shaker-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155

Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.155