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Deafness, Autosomal Recessive 16
Known as:
DFNB16
National Institutes of Health
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Related topics
Related topics
3 relations
Autosomal recessive inheritance
STRC, 4-BP DEL, NT2171
Broader (1)
Sensorineural Hearing Loss (disorder)
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss
Taku Ito
,
Yoshiyuki Kawashima
,
+4 authors
T. Tsutsumi
Human Genome Variation
2019
Corpus ID: 201670023
Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically…
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2019
2019
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
Z. Čada
,
D. Šafka Brožková
,
+13 authors
P. Seeman
European Archives of Oto-Rhino-Laryngology
2019
Corpus ID: 202733255
Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of…
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2019
2019
Phenotypic Characterization of DFNB16-associated Hearing Loss.
D. Back
,
W. Shehata-Dieler
,
+6 authors
S. Schraven
Otology and Neurotology
2019
Corpus ID: 54480405
HYPOTHESIS We hypothesized that patients with DFNB16 caused hearing loss show characteristical audiological findings depending on…
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2018
2018
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
C. Frykholm
,
J. Klar
,
Tatjana Tomanovic
,
A. Ameur
,
N. Dahl
European Journal of Human Genetics
2018
Corpus ID: 52811760
Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function…
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Highly Cited
2014
Highly Cited
2014
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
B. Vona
,
Mah Hofrichter
,
+8 authors
T. Haaf
Clinical Genetics
2014
Corpus ID: 16138475
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A…
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Highly Cited
2011
Highly Cited
2011
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
E. Verpy
,
M. Leibovici
,
+5 authors
C. Petit
The Journal of comparative neurology
2011
Corpus ID: 13943973
Stereocilin is defective in a recessive form of deafness, DFNB16. We studied the distribution of stereocilin in the developing…
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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
J. Knijnenburg
,
S. L. Oberstein
,
+5 authors
K. Szuhai
Journal of Medical Genetics
2009
Corpus ID: 13630829
Background: International databases with information on copy number variation of the human genome are an important reference for…
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Review
2002
Review
2002
Hereditary deafness and phenotyping in humans.
M. Bitner-Glindzicz
British Medical Bulletin
2002
Corpus ID: 3548932
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non…
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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.
M. Villamar
,
I. del Castillo
,
N. Valle
,
L. Romero
,
F. Moreno
American Journal of Human Genetics
1999
Corpus ID: 37661076
We thank the members of family S040 for their kind cooperation. We are also grateful to Prof. Jacques S. Beckmann for his kind…
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1997
1997
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
D. Campbell
,
D. McHale
,
+10 authors
R. Mueller
Journal of Medical Genetics
1997
Corpus ID: 46429086
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is…
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