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Usher Syndrome

Known as: RETINITIS PIGMENTOSA 8, FORMERLY, Syndrome, Deafness-Retinitis Pigmentosa, Syndromes, Usher 
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and… Expand
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous… Expand
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Highly Cited
2004
Highly Cited
2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to… Expand
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Highly Cited
2001
Highly Cited
2001
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss… Expand
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Highly Cited
2001
Highly Cited
2001
Mouse chromosome 10 harbors several loci associated with hearing loss, including waltzer (v), modifier-of deaf waddler (mdfw) and… Expand
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Highly Cited
2001
Highly Cited
2001
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular… Expand
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… Expand
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Highly Cited
1997
Highly Cited
1997
Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about I in 1,000 children1… Expand
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Highly Cited
1995
Highly Cited
1995
USHER syndrome represents the association of a hearing impairment with retinitis pigmentosa1 and is the most frequent cause of… Expand
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Highly Cited
1979
Highly Cited
1979
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least… Expand
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Highly Cited
1979
Highly Cited
1979
The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with… Expand
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