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DEAFNESS, X-LINKED 1 (disorder)
Known as:
Deafness, X-Linked 1
, DFNX1
, DFN2
Â
(More)
Â
National Institutes of Health
Topic mentions per year
Topic mentions per year
1996-2014
0
1
2
1996
2014
Related topics
Related topics
3 relations
Broader (2)
Genetic Diseases, X-Linked
Sensorineural Hearing Loss (disorder)
X-linked inheritance
Related mentions per year
Related mentions per year
1938-2018
1940
1960
1980
2000
2020
DEAFNESS, X-LINKED 1 (disorder)
X-linked inheritance
Sensorineural Hearing Loss (disorder)
Genetic Diseases, X-Linked
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
A Al-maawali
,
Lucie Dupuis
,
+9 authors
Roberto Mendoza-Londono
European Journal of Human Genetics
2015
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated…Â
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2014
2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
Berta Almoguera
,
Sijie He
,
+15 authors
Carmen Ayuso
Orphanet journal of rare diseases
2014
BACKGROUND Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in…Â
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Review
2012
Review
2012
Nonsyndromic X-linked hearing loss.
Mee Song
,
Kyu-yup Lee
,
Jae Young Choi
,
Jinwoong Bok
,
Un-Kyung Kim
Frontiers in bioscience
2012
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until recently, four loci (DFN2, DFN3…Â
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2010
2010
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Xuezhong Liu
,
Dong-yi Han
,
+19 authors
Huijun Yuan
American journal of human genetics
2010
We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval…Â
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Review
2010
Review
2010
PRPS1 mutations: four distinct syndromes and potential treatment.
Arjan P. M. de Brouwer
,
Hans van Bokhoven
,
Sander B. Nabuurs
,
Willem Frans M. Arts
,
John Christodoulou
,
J. Duley
American journal of human genetics
2010
Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell…Â
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2004
2004
Refinement of the locus for non-syndromic sensorineural deafness (DFN2)
Bin Cui
,
Haibing Zhang
,
+4 authors
Lan-Dian Hu
Journal of Genetics
2004
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary…Â
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2002
2002
Clinical phenotype of DFN2, DFN4 and DFN6.
Markus H F Pfister
,
Anil Lalwani
Advances in oto-rhino-laryngology
2002
Â
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1996
1996
Mapping of DFN2 to Xq22.
J. A. Tyson
,
Steven Bellman
,
+4 authors
Maria A. K. Bitner-Glindzicz
Human molecular genetics
1996
Non-syndromic X-linked deafness is a rare form of genetic deafness accounting for a small proportion of all hereditary hearing…Â
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