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Deafness, Autosomal Recessive 16

Known as: DFNB16 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1997-2015
01219972015

Related topics

Related topics

2 relations
Autosomal recessive inheritance

Broader (1)

Sensorineural Hearing Loss (disorder)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Deafness, Autosomal Recessive 16
Sensorineural Hearing Loss (disorder)
Autosomal recessive inheritance

Papers overview

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2015
2015
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A… (More)
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2011
2011
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane.
Stereocilin is defective in a recessive form of deafness, DFNB16. We studied the distribution of stereocilin in the developing… (More)
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Review
2009
Review
2009
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.
BACKGROUND International databases with information on copy number variation of the human genome are an important reference for… (More)
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Review
2002
Review
2002
Hereditary deafness and phenotyping in humans.
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
Hearing impairment affects about 1 in 1,000 children at birth. Approximately 70 loci implicated in non-syndromic forms of… (More)
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2001
2001
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
Hearing impairment is the most common inherited human sensory defect. Nonsyndromic Hearing Impairment (NSHI) is the most… (More)
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1999
1999
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132.
 
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1997
1997
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is… (More)
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