(Q33855114)

29 July 2017

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title

Autosomal recessive nonsyndromic hearing loss (English)

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29 July 2017

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Sundstrom RA

1

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29 July 2017

Van Laer L

series ordinal

2

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29 July 2017

Van Camp G

series ordinal

3

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29 July 2017

Smith RJ

series ordinal

4

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29 July 2017

publication date

1 September 1999

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American Journal of Medical Genetics Part A

29 July 2017

published in

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29 July 2017

volume

89

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29 July 2017

issue

3

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29 July 2017

page(s)

123-129

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

29 July 2017

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Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

21 January 2018

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Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

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A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

21 January 2018

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Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

21 January 2018

1 reference

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Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

21 January 2018

1 reference

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Connexin 26 gene linked to a dominant deafness

21 January 2018

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

21 January 2018

1 reference

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

21 January 2018

1 reference

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Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

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Unconventional myosins in inner-ear sensory epithelia

21 January 2018

1 reference

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A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

21 January 2018

1 reference

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A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

21 January 2018

1 reference

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Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

21 January 2018

1 reference

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A simple method for displaying the hydropathic character of a protein

21 January 2018

1 reference

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

1 reference

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The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system

21 January 2018

1 reference

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A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

21 January 2018

1 reference

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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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Genetic epidemiology of hearing impairment

21 January 2018

1 reference

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A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.

21 January 2018

1 reference

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Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

The Pendred syndrome gene encodes a chloride-iodide transport protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan

21 January 2018

1 reference

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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Passage to India: the search for genes causing autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

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/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C123%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19990924)89:3<123::AID-AJMG2>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference