Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. (Q50488284)

14 March 2018

title

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. (English)

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14 March 2018

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Farhad Mirghomizadeh

1

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Bettina Bardtke

2

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Marcella Devoto

3

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Markus Pfister

4

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Jens Oeken

5

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Elke König

6

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Emilia Vitale

7

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Antonio Riccio

8

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Assunta De Rienzo

9

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Hans Peter Zenner

10

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Nikolaus Blin

11

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publication date

1 February 2002

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European Journal of Human Genetics

published in

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14 March 2018

volume

10

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issue

2

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page(s)

95-99

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The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

cites work

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Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

21 January 2018

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Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200769

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200769

Genes responsible for human hereditary deafness: symphony of a thousand

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200769

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200769

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200769

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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Strategies for multilocus linkage analysis in humans

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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Oculomotor, auditory, and vestibular responses in myotonic dystrophy

21 January 2018

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Mapping of the human BAX gene to chromosome 19q13.3–q13.4 and isolation of a novel alternatively spliced transcript, BAXδ

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200769

Localization of bcl-2, bax, and bcl-x mRNAs in the developing inner ear of the mouse

21 January 2018

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Auditory abnormalities, including 'precocious presbyacusis', in myotonic dystrophy.

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200769

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14 March 2018

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14 March 2018