Congenital deafness

Known as: CONGENITAL HEARING LOSS, hereditary deafness, Deafness, sensorineural, congenital 
 
National Institutes of Health

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Highly Cited
2004
Highly Cited
2004
BACKGROUND Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by… (More)
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Review
2003
Review
2003
Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at… (More)
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Highly Cited
2002
Highly Cited
2002
The congenitally deaf cat suffers from a degeneration of the inner ear. The organ of Corti bears no hair cells, yet the auditory… (More)
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Highly Cited
2002
Highly Cited
2002
Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia… (More)
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Highly Cited
2000
Highly Cited
2000
Congenital deafness accounts for about 1 in 1000 infants and approximately 80% of cases are inherited as an autosomal recessive… (More)
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Highly Cited
1999
Highly Cited
1999
CONTEXT Mutations in the GJB2 gene are the most common known cause of inherited congenital severe-to-profound deafness. The… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is… (More)
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Highly Cited
1997
Highly Cited
1997
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By… (More)
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Review
1996
Review
1996
Hearing loss is the most frequent sensory defect in humans. Dozens of genes may be responsible for the early onset forms of… (More)
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Highly Cited
1991
Highly Cited
1991
BACKGROUND The Long QT Syndrome (LQTS) is an infrequently occurring familial disorder in which affected individuals have… (More)
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