DEAFNESS, X-LINKED 1 (disorder)

Known as: Deafness, X-Linked 1, DFNX1, DFN2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1996-2014
01219962014

Papers overview

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2015
2015
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated… (More)
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2014
2014
BACKGROUND Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in… (More)
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Review
2012
Review
2012
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until recently, four loci (DFN2, DFN3… (More)
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2010
2010
We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval… (More)
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Review
2010
Review
2010
Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell… (More)
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2004
2004
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary… (More)
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2002
2002
 
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1996
1996
Non-syndromic X-linked deafness is a rare form of genetic deafness accounting for a small proportion of all hereditary hearing… (More)
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