PubMed (cited) for id: 304500

Year	Number of Results
1955	1
1958	1
1963	1
1965	1
1969	1
1990	1
1991	1
1992	1
1994	1
1996	1
1999	1
2000	1
2004	1
2007	1
2008	1
2010	1
2014	3
2015	1
2024	0

1

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Almoguera B, et al. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. Orphanet J Rare Dis. 2014. PMID: 25491489 Free PMC article.

2

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Robusto M, Fang M, Asselta R, Castorina P, Previtali SC, Caccia S, Benzoni E, De Cristofaro R, Yu C, Cesarani A, Liu X, Li W, Primignani P, Ambrosetti U, Xu X, Duga S, Soldà G. Robusto M, et al. Eur J Hum Genet. 2015 Jun;23(6):766-73. doi: 10.1038/ejhg.2014.168. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182139 Free PMC article.

3

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L. Synofzik M, et al. Orphanet J Rare Dis. 2014 Feb 14;9:24. doi: 10.1186/1750-1172-9-24. Orphanet J Rare Dis. 2014. PMID: 24528855 Free PMC article.

4

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H. Liu X, et al. Am J Hum Genet. 2010 Jan;86(1):65-71. doi: 10.1016/j.ajhg.2009.11.015. Am J Hum Genet. 2010. PMID: 20021999 Free PMC article.

5

Sex-linked deafness.

Petersen MB, Wang Q, Willems PJ. Petersen MB, et al. Clin Genet. 2008 Jan;73(1):14-23. doi: 10.1111/j.1399-0004.2007.00913.x. Epub 2007 Nov 13. Clin Genet. 2008. PMID: 18005182 Review.

6

Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

Cui B, Zhang H, Lu Y, Zhong W, Pei G, Kong X, Hu L. Cui B, et al. J Genet. 2004 Apr;83(1):35-8. doi: 10.1007/BF02715827. J Genet. 2004. PMID: 15240907 Free article.

7

Sex-linked hereditary deafness.

SATALOFF J, PASTORE PN, BLOOM E. SATALOFF J, et al. Am J Hum Genet. 1955 Jun;7(2):201-3. Am J Hum Genet. 1955. PMID: 14388008 Free PMC article. No abstract available.

8

Sex-linked deaf-mutism.

RICHARDS BW. RICHARDS BW. Ann Hum Genet. 1963 Feb;26:195-9. doi: 10.1111/j.1469-1809.1963.tb01975.x. Ann Hum Genet. 1963. PMID: 13982090 No abstract available.

9

Congenital deafness due to a sex-linked recessive gene.

PARKER N. PARKER N. Am J Hum Genet. 1958 Jun;10(2):196-200. Am J Hum Genet. 1958. PMID: 13533396 Free PMC article. No abstract available.

10

Genetic causes of hearing loss.

Willems PJ. Willems PJ. N Engl J Med. 2000 Apr 13;342(15):1101-9. doi: 10.1056/NEJM200004133421506. N Engl J Med. 2000. PMID: 10760311 Review. No abstract available.

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