199 related articles for article (PubMed ID: 21534946)
1. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Lee K; Khan S; Islam A; Ansar M; Andrade PB; Kim S; Santos-Cortez RL; Ahmad W; Leal SM
Clin Genet; 2012 Jul; 82(1):56-63. PubMed ID: 21534946
[TBL] [Abstract][Full Text] [Related]
2. Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Charif M; Abidi O; Boulouiz R; Nahili H; Rouba H; Kandil M; Delprat B; Lenaers G; Barakat A
Biochem Biophys Res Commun; 2012 Mar; 419(4):643-7. PubMed ID: 22382023
[TBL] [Abstract][Full Text] [Related]
3. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Masmoudi S; Antonarakis SE; Schwede T; Ghorbel AM; Gratri M; Pappasavas MP; Drira M; Elgaied-Boulila A; Wattenhofer M; Rossier C; Scott HS; Ayadi H; Guipponi M
Hum Mutat; 2001 Aug; 18(2):101-8. PubMed ID: 11462234
[TBL] [Abstract][Full Text] [Related]
4. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
Lee J; Baek JI; Choi JY; Kim UK; Lee SH; Lee KY
Gene; 2013 Dec; 532(2):276-80. PubMed ID: 23958653
[TBL] [Abstract][Full Text] [Related]
5. Novel Mutations and Mutation Combinations of
Gao X; Yuan YY; Wang GJ; Xu JC; Su Y; Lin X; Dai P
Biomed Res Int; 2017; 2017():4707315. PubMed ID: 28246597
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J; Park SM; Chang SO; Chung T; Lee KY; Kim AR; Park JH; Kim V; Park WY; Oh SH; Kim D; Park WJ; Choi BY
J Mol Med (Berl); 2014 Jun; 92(6):651-63. PubMed ID: 24526180
[TBL] [Abstract][Full Text] [Related]
7. TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.
Guipponi M; Antonarakis SE; Scott HS
Front Biosci; 2008 Jan; 13():1557-67. PubMed ID: 17981648
[TBL] [Abstract][Full Text] [Related]
8. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
Shafique S; Siddiqi S; Schraders M; Oostrik J; Ayub H; Bilal A; Ajmal M; Seco CZ; Strom TM; Mansoor A; Mazhar K; Shah ST; Hussain A; Azam M; Kremer H; Qamar R
PLoS One; 2014; 9(6):e100146. PubMed ID: 24949729
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.
Fan D; Zhu W; Li D; Ji D; Wang P
PLoS One; 2014; 9(12):e114136. PubMed ID: 25474651
[TBL] [Abstract][Full Text] [Related]
10. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M; Sahin-Calapoglu N; Andreasen D; Kalay E; Caylan R; Braillard B; Fowler-Jaeger N; Reymond A; Rossier BC; Karaguzel A; Antonarakis SE
Hum Genet; 2005 Oct; 117(6):528-35. PubMed ID: 16021470
[TBL] [Abstract][Full Text] [Related]
11. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed ZM; Li XC; Powell SD; Riazuddin S; Young TL; Ramzan K; Ahmad Z; Luscombe S; Dhillon K; MacLaren L; Ploplis B; Shotland LI; Ives E; Riazuddin S; Friedman TB; Morell RJ; Wilcox ER
BMC Med Genet; 2004 Sep; 5():24. PubMed ID: 15447792
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Elbracht M; Senderek J; Eggermann T; Thürmer C; Park J; Westhofen M; Zerres K
J Med Genet; 2007 Jun; 44(6):e81. PubMed ID: 17551081
[TBL] [Abstract][Full Text] [Related]
13. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Santos RL; El-Shanti H; Sikandar S; Lee K; Bhatti A; Yan K; Chahrour MH; McArthur N; Pham TL; Mahasneh AA; Ahmad W; Leal SM
J Mol Med (Berl); 2006 Mar; 84(3):226-31. PubMed ID: 16389551
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Weegerink NJ; Schraders M; Oostrik J; Huygen PL; Strom TM; Granneman S; Pennings RJ; Venselaar H; Hoefsloot LH; Elting M; Cremers CW; Admiraal RJ; Kremer H; Kunst HP
J Assoc Res Otolaryngol; 2011 Dec; 12(6):753-66. PubMed ID: 21786053
[TBL] [Abstract][Full Text] [Related]
15. Identification of
Gao X; Huang SS; Yuan YY; Xu JC; Gu P; Bai D; Kang DY; Han MY; Wang GJ; Zhang MG; Li J; Dai P
Neural Plast; 2017; 2017():3192090. PubMed ID: 28695016
[TBL] [Abstract][Full Text] [Related]
16. Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E; Yan D; Shearer AE; de Joya E; Thielhelm T; Russell N; Staecker H; Chen Z; Holt JR; Liu X
Audiol Neurootol; 2023; 28(6):407-419. PubMed ID: 37331337
[TBL] [Abstract][Full Text] [Related]
17. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Santos RL; Wajid M; Khan MN; McArthur N; Pham TL; Bhatti A; Lee K; Irshad S; Mir A; Yan K; Chahrour MH; Ansar M; Ahmad W; Leal SM
Hum Mutat; 2005 Oct; 26(4):396. PubMed ID: 16134132
[TBL] [Abstract][Full Text] [Related]
18. Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
Chishti MS; Bhatti A; Tamim S; Lee K; McDonald ML; Leal SM; Ahmad W
J Hum Genet; 2008; 53(2):101-105. PubMed ID: 18084694
[TBL] [Abstract][Full Text] [Related]
19. Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Ołdak M; Lechowicz U; Pollak A; Oziębło D; Skarżyński H
J Transl Med; 2019 Aug; 17(1):269. PubMed ID: 31412945
[TBL] [Abstract][Full Text] [Related]
20. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K; Ansar M; Andrade PB; Khan B; Santos-Cortez RL; Ahmad W; Leal SM
Am J Med Genet A; 2012 Feb; 158A(2):315-21. PubMed ID: 22246673
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]