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Journal Abstract Search
233 related items for PubMed ID: 9506947
1. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Science; 1998 Mar 20; 279(5358):1950-4. PubMed ID: 9506947 [Abstract] [Full Text] [Related]
4. Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss. Freitas ÉL, Oiticica J, Silva AG, Bittar RS, Rosenberg C, Mingroni-Netto RC. Eur J Med Genet; 2014 Mar 20; 57(4):125-8. PubMed ID: 24556497 [Abstract] [Full Text] [Related]
6. Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB. Arch Otolaryngol Head Neck Surg; 2000 May 20; 126(5):633-7. PubMed ID: 10807331 [Abstract] [Full Text] [Related]
7. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H. Hum Mutat; 2008 Apr 20; 29(4):545-54. PubMed ID: 18228599 [Abstract] [Full Text] [Related]
8. Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, Yücel R, Frankel WN, Rechavi G, Möröy T, Friedman TB, Kelley MW, Avraham KB. Hum Mol Genet; 2004 Sep 15; 13(18):2143-53. PubMed ID: 15254021 [Abstract] [Full Text] [Related]
10. Aldh inhibitor restores auditory function in a mouse model of human deafness. Zhu GJ, Gong S, Ma DB, Tao T, He WQ, Zhang L, Wang F, Qian XY, Zhou H, Fan C, Wang P, Chen X, Zhao W, Sun J, Chen H, Wang Y, Gao X, Zuo J, Zhu MS, Gao X, Wan G. PLoS Genet; 2020 Sep 15; 16(9):e1009040. PubMed ID: 32970669 [Abstract] [Full Text] [Related]
12. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans. He L, Pang X, Chen P, Wu H, Yang T. Neural Plast; 2016 Sep 15; 2016():9890827. PubMed ID: 28053790 [Abstract] [Full Text] [Related]
13. DFNA54, a third locus for low-frequency hearing loss. Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Lalwani AK. J Mol Med (Berl); 2004 Nov 15; 82(11):775-80. PubMed ID: 15490091 [Abstract] [Full Text] [Related]
14. The clinical presentation of DFNA15/POU4F3. Gottfried I, Huygen PL, Avraham KB. Adv Otorhinolaryngol; 2002 Nov 15; 61():92-7. PubMed ID: 12408069 [No Abstract] [Full Text] [Related]
16. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW. PLoS One; 2013 Nov 15; 8(11):e79063. PubMed ID: 24260153 [Abstract] [Full Text] [Related]
17. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K. J Hum Genet; 2002 Nov 15; 47(12):635-40. PubMed ID: 12522684 [Abstract] [Full Text] [Related]
18. Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. Pauw RJ, van Drunen FJ, Collin RW, Huygen PL, Kremer H, Cremers CW. Arch Otolaryngol Head Neck Surg; 2008 Mar 15; 134(3):294-300. PubMed ID: 18347256 [Abstract] [Full Text] [Related]
19. Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects. Lee SY, Kim MY, Han JH, Park SS, Yun Y, Jee SC, Han JJ, Lee JH, Seok H, Choi BY. Sci Rep; 2023 Aug 03; 13(1):12584. PubMed ID: 37537203 [Abstract] [Full Text] [Related]
20. Two deaf mice, two deaf mice.. Heller S, Hudspeth AJ. Nat Med; 1998 May 03; 4(5):560-1. PubMed ID: 9585227 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]