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DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
Known as:
Deafness, Autosomal Recessive 4
, Neurosensory Nonsyndromic Recessive Deafness 4
, DFNB4
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National Institutes of Health
Topic mentions per year
Topic mentions per year
1980-2017
0
10
20
1980
2017
Related topics
Related topics
2 relations
Autosomal recessive inheritance
Sensorineural Hearing Loss (disorder)
Related mentions per year
Related mentions per year
1940-2018
1940
1960
1980
2000
2020
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
Autosomal recessive inheritance
Sensorineural Hearing Loss (disorder)
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
Shasha Huang
,
Dong-yi Han
,
+7 authors
Pu Dai
Journal of Translational Medicine
2011
Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear…Â
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2009
2009
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
Tao Yang
,
Jose G Gurrola
,
+4 authors
Richard J. H. Smith
American journal of human genetics
2009
Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4…Â
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2007
2007
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
Hao Hu
,
Lingqian Wu
,
+8 authors
Jiahui Xia
Journal of Human Genetics
2007
AbstractIt has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital…Â
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2007
2007
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
Tao Yang
,
Hilmar Vidarsson
,
Sandra Rodrigo-Blomqvist
,
Sally S Rosengren
,
S. Enerback
,
Richard J. H. Smith
American journal of human genetics
2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and…Â
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Highly Cited
2006
Highly Cited
2006
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
Sébastien Albert
,
Hélène Blons
,
+27 authors
Françoise Denoyelle
European Journal of Human Genetics
2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It…Â
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Highly Cited
2005
Highly Cited
2005
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic…
Scott Pryor
,
Anne C. Madeo
,
+8 authors
Alida Griffith
Journal of medical genetics
2005
E nlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic…Â
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Highly Cited
2001
Highly Cited
2001
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
C. Campbell
,
Robert A Cucci
,
+6 authors
R. J. Smith
Human mutation
2001
Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a…Â
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2001
2001
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Núria López-Bigas
,
Salvatore Melchionda
,
+6 authors
Xavier Estivill
Human mutation
2001
Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter…Â
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Highly Cited
1996
Highly Cited
1996
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
Beth Coyle
,
Rebecca Coffey
,
+7 authors
Richard C Trembath
Nature Genetics
1996
Inherited causes account for about 50% of Individuals presenting with childhood (prelingual) hearing loss, of which 70% are due…Â
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Highly Cited
1995
Highly Cited
1995
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
C. T. Baldwin
,
S. Weiß
,
+6 authors
Batsheva Bonné-Tamir
Human molecular genetics
1995
Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a…Â
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