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Prelingual sensorineural hearing impairment
Known as:
Deafness, sensorineural, prelingual
, Prelingual sensorineural deafness
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. [HPO:probinson]
National Institutes of Health
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Papers overview
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2015
2015
Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations
Qiujing Zhang
,
L. Lan
,
+11 authors
Qiuju Wang
Acta Oto-Laryngologica
2015
Corpus ID: 25445011
Abstract Conclusion: To our knowledge, this is the first report of PJVK gene mutation in a Chinese non-syndromic sensorineural…
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2014
2014
LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function
Heather A. Jackson
,
Sarah McIntosh
,
+5 authors
Laura Arbour
Clinical Genetics
2014
Corpus ID: 25558199
Long QT syndrome (LQTS), a rare congenital cardiac condition associated with life‐threatening ventricular arrhythmias is…
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2012
2012
The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.
M. Petersen
,
M. Grigoriadou
,
Maria Koutroumpe
,
H. Kokotas
International Journal of Pediatric…
2012
Corpus ID: 38971753
2009
2009
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
M. Chishti
,
Kwanghyuk Lee
,
+4 authors
S. Leal
Journal of Human Genetics
2009
Corpus ID: 19918953
A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22–21.3. To map the locus…
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2007
2007
Coincidence of mutations in different connexin genes in Hungarian patients.
T. Tóth
,
S. Kupka
,
+5 authors
I. Sziklai
International Journal of Molecular Medicine
2007
Corpus ID: 36257233
Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Several…
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2004
2004
Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness.
C. Bathelier
,
M. François
,
G. Lucotte
Genetic Counseling
2004
Corpus ID: 10105036
About half of congenitally deaf children that have a recessively inherited sensorineural deafness are born from normal-hearing…
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2003
2003
DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22–q21.12
M. Wajid
,
A. A. Abbasi
,
+5 authors
S. Leal
European Journal of Human Genetics
2003
Corpus ID: 1547697
This article describes the identification of a novel locus (DFNB39) responsible for an autosomal recessive form of hearing loss…
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2003
2003
Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26-q27 in a Consanguineous Kindred from Pakistan
M. Ansar
,
Mohammad Ramzan
,
+5 authors
S. Leal
Human Heredity
2003
Corpus ID: 28452930
For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38…
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2002
2002
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
M. Mustapha
,
E. Chouery
,
+8 authors
C. Petit
European Journal of Human Genetics
2002
Corpus ID: 7740628
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a…
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2002
2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.
A. Mégarbané
,
B. Bejjani
,
+4 authors
M. le Merrer
American journal of medical genetics
2002
Corpus ID: 27376906
Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature…
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