-
1
-
-
37649020614
-
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families
-
Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, van Camp G. 2008. A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J Pediatr Otorhinolaryngol 72: 249-255.
-
(2008)
Int J Pediatr Otorhinolaryngol
, vol.72
, pp. 249-255
-
-
Alasti, F.1
Sanati, M.H.2
Behrouzifard, A.H.3
Sadeghi, A.4
de Brouwer, A.P.5
Kremer, H.6
Smith, R.J.7
van Camp, G.8
-
2
-
-
74049138349
-
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients
-
Bonyadi M, Esmaeili M, Abhari M, Lotfi A. 2009. Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. Genet Test Mol Biomarkers 13: 689-692.
-
(2009)
Genet Test Mol Biomarkers
, vol.13
, pp. 689-692
-
-
Bonyadi, M.1
Esmaeili, M.2
Abhari, M.3
Lotfi, A.4
-
3
-
-
79851516880
-
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
-
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. 2011. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet 88: 127-137.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 127-137
-
-
Borck, G.1
Ur Rehman, A.2
Lee, K.3
Pogoda, H.M.4
Kakar, N.5
von Ameln, S.6
Grillet, N.7
Hildebrand, M.S.8
Ahmed, Z.M.9
Nürnberg, G.10
Ansar, M.11
Basit, S.12
Javed, Q.13
Morell, R.J.14
Nasreen, N.15
Shearer, A.E.16
Ahmad, A.17
Kahrizi, K.18
Shaikh, R.S.19
Ali, R.A.20
Khan, S.N.21
Goebel, I.22
Meyer, N.C.23
Kimberling, W.J.24
Webster, J.A.25
Stephan, D.A.26
Schiller, M.R.27
Bahlo, M.28
Najmabadi, H.29
Gillespie, P.G.30
Nürnberg, P.31
Wollnik, B.32
Riazuddin, S.33
Smith, R.J.34
Ahmad, W.35
Müller, U.36
Hammerschmidt, M.37
Friedman, T.B.38
Riazuddin, S.39
Leal, S.M.40
Ahmad, J.41
Kubisch, C.42
more..
-
4
-
-
31144467969
-
Mutation of COL11A2 causes autosomal recessive nonsyndromic hearing loss at the DFNB53 locus
-
Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ. 2005. Mutation of COL11A2 causes autosomal recessive nonsyndromic hearing loss at the DFNB53 locus J Med Genet 42: e61.
-
(2005)
J Med Genet
, vol.42
-
-
Chen, W.1
Kahrizi, K.2
Meyer, N.C.3
Riazalhosseini, Y.4
Van Camp, G.5
Najmabadi, H.6
Smith, R.J.7
-
5
-
-
0001639812
-
Epidemiology, etiology and genetic patterns.
-
Gorlin RJ, Toriello HV, Cohen MM, editors. Oxford: Oxford University Press.
-
Cohen MM, Gorlin RJ. 1995. Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, editors. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press. pp. 9-21.
-
(1995)
Hereditary hearing loss and its syndromes
, pp. 9-21
-
-
Cohen, M.M.1
Gorlin, R.J.2
-
6
-
-
0347380089
-
Deafness genes and their diagnostic applications
-
Cryns K, van Camp G. 2004. Deafness genes and their diagnostic applications. Audiol Neurootol 9: 2-22.
-
(2004)
Audiol Neurootol
, vol.9
, pp. 2-22
-
-
Cryns, K.1
van Camp, G.2
-
7
-
-
84855929580
-
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss
-
Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H. 2012. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. Int J Pediatr Otorhinolaryngol 76: 268-271.
-
(2012)
Int J Pediatr Otorhinolaryngol
, vol.76
, pp. 268-271
-
-
Davarnia, B.1
Babanejad, M.2
Fattahi, Z.3
Nikzat, N.4
Bazazzadegan, N.5
Pirzade, A.6
Farajollahi, R.7
Nishimura, C.8
Jalalvand, K.9
Arzhangi, S.10
Kahrizi, K.11
Smith, R.J.12
Najmabadi, H.13
-
8
-
-
79251482485
-
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1
-
de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H, Cremers CW. 2011. Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. Audiol Neurootol 16: 93-105.
-
(2011)
Audiol Neurootol
, vol.16
, pp. 93-105
-
-
de Heer, A.M.1
Collin, R.W.2
Huygen, P.L.3
Schraders, M.4
Oostrik, J.5
Rouwette, M.6
Kunst, H.P.7
Kremer, H.8
Cremers, C.W.9
-
9
-
-
79951991591
-
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey
-
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M. 2011. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers 15: 29-33.
-
(2011)
Genet Test Mol Biomarkers
, vol.15
, pp. 29-33
-
-
Duman, D.1
Sirmaci, A.2
Cengiz, F.B.3
Ozdag, H.4
Tekin, M.5
-
10
-
-
34248389211
-
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
-
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ. 2007. Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat 28: 571-577.
-
(2007)
Hum Mutat
, vol.28
, pp. 571-577
-
-
Ebermann, I.1
Walger, M.2
Scholl, H.P.3
Charbel Issa, P.4
Lüke, C.5
Nürnberg, G.6
Lang-Roth, R.7
Becker, C.8
Nürnberg, P.9
Bolz, H.J.10
-
11
-
-
84864151320
-
Screening for MYO15A gene mutations in an autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
-
Epub ahead of print].
-
Fattahi Z, Shearer AE, Babanejad M, Bazazzadegan N, Almadani SN, Nikzat N, Jalalvand K, Arzhangi S, Esteghamat F, Abtahi R, Azadeh B, Smith RJH, Kahrizi K, Najmabadi H. 2011. Screening for MYO15A gene mutations in an autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet Part A [Epub ahead of print].
-
(2011)
Am J Med Genet Part A
-
-
Fattahi, Z.1
Shearer, A.E.2
Babanejad, M.3
Bazazzadegan, N.4
Almadani, S.N.5
Nikzat, N.6
Jalalvand, K.7
Arzhangi, S.8
Esteghamat, F.9
Abtahi, R.10
Azadeh, B.11
Smith, R.J.H.12
Kahrizi, K.13
Najmabadi, H.14
-
12
-
-
0036362981
-
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation
-
Friedman TB, Hinnant JT, Ghosh M, Boger ET, Riazuddin S, Lupski JR, Potocki L, Wilcox ER. 2002. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol 61: 124-130.
-
(2002)
Adv Otorhinolaryngol
, vol.61
, pp. 124-130
-
-
Friedman, T.B.1
Hinnant, J.T.2
Ghosh, M.3
Boger, E.T.4
Riazuddin, S.5
Lupski, J.R.6
Potocki, L.7
Wilcox, E.R.8
-
13
-
-
69449086147
-
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans
-
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U. 2009. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet 85: 328-337.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 328-337
-
-
Grillet, N.1
Schwander, M.2
Hildebrand, M.S.3
Sczaniecka, A.4
Kolatkar, A.5
Velasco, J.6
Webster, J.A.7
Kahrizi, K.8
Najmabadi, H.9
Kimberling, W.J.10
Stephan, D.11
Bahlo, M.12
Wiltshire, T.13
Tarantino, L.M.14
Kuhn, P.15
Smith, R.J.16
Müller, U.17
-
15
-
-
78649936024
-
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population
-
Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H. 2010. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol 119: 830-835.
-
(2010)
Ann Otol Rhinol Laryngol
, vol.119
, pp. 830-835
-
-
Hildebrand, M.S.1
Kahrizi, K.2
Bromhead, C.J.3
Shearer, A.E.4
Webster, J.A.5
Khodaei, H.6
Abtahi, R.7
Bazazzadegan, N.8
Babanejad, M.9
Nikzat, N.10
Kimberling, W.J.11
Stephan, D.12
Huygen, P.L.13
Bahlo, M.14
Smith, R.J.15
Najmabadi, H.16
-
16
-
-
67349232763
-
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment
-
Kahrizi K, Mohseni M, Nishimura C, Bazazzadegan N, Fischer SM, Dehghani A, Sayfati M, Taghdiri M, Jamali P, Smith RJ, Azizi F, Najmabadi H. 2009. Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr 168: 651-653.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 651-653
-
-
Kahrizi, K.1
Mohseni, M.2
Nishimura, C.3
Bazazzadegan, N.4
Fischer, S.M.5
Dehghani, A.6
Sayfati, M.7
Taghdiri, M.8
Jamali, P.9
Smith, R.J.10
Azizi, F.11
Najmabadi, H.12
-
17
-
-
18044390304
-
GJB2 mutations in Turkish patients with ARNSHL: Prevalence and two novel mutations
-
Kalay E, Caylan R, Kremer H, de Brouwer AP, Karaguzel A. 2005. GJB2 mutations in Turkish patients with ARNSHL: Prevalence and two novel mutations. Hear Res 203: 88-93.
-
(2005)
Hear Res
, vol.203
, pp. 88-93
-
-
Kalay, E.1
Caylan, R.2
Kremer, H.3
de Brouwer, A.P.4
Karaguzel, A.5
-
18
-
-
0036654536
-
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
-
Kenneson A, Van Naarden Braun K, Boyle C. 2002. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med 4: 258-274.
-
(2002)
Genet Med
, vol.4
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden Braun, K.2
Boyle, C.3
-
19
-
-
36248940280
-
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
-
Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ. 2007. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin Genet 72: 546-550.
-
(2007)
Clin Genet
, vol.72
, pp. 546-550
-
-
Kitajiri, S.I.1
McNamara, R.2
Makishima, T.3
Husnain, T.4
Zafar, A.U.5
Kittles, R.A.6
Ahmed, Z.M.7
Friedman, T.B.8
Riazuddin, S.9
Griffith, A.J.10
-
20
-
-
0034876240
-
Meta-analysis of GJB2 mutation 35delG frequencies in Europe
-
Lucotte G, Mercier G. 2001. Meta-analysis of GJB2 mutation 35delG frequencies in Europe. Genet Test 5: 149-152.
-
(2001)
Genet Test
, vol.5
, pp. 149-152
-
-
Lucotte, G.1
Mercier, G.2
-
21
-
-
78049269549
-
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations
-
Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S. 2010. Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. J Hum Genet 55: 639-648.
-
(2010)
J Hum Genet
, vol.55
, pp. 639-648
-
-
Mahdieh, N.1
Rabbani, B.2
Wiley, S.3
Akbari, M.T.4
Zeinali, S.5
-
22
-
-
84867658612
-
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy
-
Epub ahead of print].
-
Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K. 2012. A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. Clin Genet [Epub ahead of print].
-
(2012)
Clin Genet
-
-
Matsunaga, T.1
Mutai, H.2
Kunishima, S.3
Namba, K.4
Morimoto, N.5
Shinjo, Y.6
Arimoto, Y.7
Kataoka, Y.8
Shintani, T.9
Morita, N.10
Sugiuchi, T.11
Masuda, S.12
Nakano, A.13
Taiji, H.14
Kaga, K.15
-
23
-
-
34447260934
-
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
-
Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H. 2007. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet Part A 143A: 1623-1629.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 1623-1629
-
-
Meyer, N.C.1
Alasti, F.2
Nishimura, C.J.3
Imanirad, P.4
Kahrizi, K.5
Riazalhosseini, Y.6
Malekpour, M.7
Kochakian, N.8
Jamali, P.9
Van Camp, G.10
Smith, R.J.11
Najmabadi, H.12
-
24
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton NE. 1991. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630: 16-31.
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
25
-
-
0032977996
-
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual nonsyndromic deafness, DFNB21
-
Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. 1999. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual nonsyndromic deafness, DFNB21. Hum Mol Genet 8: 409-412.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 409-412
-
-
Mustapha, M.1
Weil, D.2
Chardenoux, S.3
Elias, S.4
El-Zir, E.5
Beckmann, J.S.6
Loiselet, J.7
Petit, C.8
-
26
-
-
0036580878
-
GJB2 mutations in Iranians with autosomal recessive nonsyndromic sensorineural hearing loss
-
Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Javan K, Smith RJ. 2002. GJB2 mutations in Iranians with autosomal recessive nonsyndromic sensorineural hearing loss. Hum Mutat 19: 572.
-
(2002)
Hum Mutat
, vol.19
, pp. 572
-
-
Najmabadi, H.1
Cucci, R.A.2
Sahebjam, S.3
Kouchakian, N.4
Farhadi, M.5
Kahrizi, K.6
Arzhangi, S.7
Daneshmandan, N.8
Javan, K.9
Smith, R.J.10
-
27
-
-
20044375751
-
GJB2 mutations- passage through Iran
-
Najmabadi H, Nishimura S, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Bazazzadegan N, Naghavi A, Avenarius M, JavanKh JH, Smith R. 2005. GJB2 mutations- passage through Iran. Am J Med Genet Part A 133A: 132-137.
-
(2005)
Am J Med Genet Part A
, vol.133 A
, pp. 132-137
-
-
Najmabadi, H.1
Nishimura, S.2
Kahrizi, K.3
Riazalhosseini, Y.4
Malekpour, M.5
Daneshi, A.6
Farhadi, M.7
Mohseni, M.8
Mahdieh, N.9
Bazazzadegan, N.10
Naghavi, A.11
Avenarius, M.12
JavanKh, J.H.13
Smith, R.14
-
28
-
-
0038238367
-
Distinctive audiometric profile associated with DFNB21 alleles of TECTA
-
Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S. 2003. Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J Med Genet 40: 360-363.
-
(2003)
J Med Genet
, vol.40
, pp. 360-363
-
-
Naz, S.1
Alasti, F.2
Mowjoodi, A.3
Riazuddin, S.4
Sanati, M.H.5
Friedman, T.B.6
Griffith, A.J.7
Wilcox, E.R.8
Riazuddin, S.9
-
29
-
-
80053122535
-
Did the GJB2 35delG mutation originate in Iran
-
Norouzi V, Azizi H, Fattahi Z, Esteghamat F, Bazazzadegan N, Nishimura C, Nikzat N, Jalalvand K, Kahrizi K, Smith RJ, Najmabadi H. 2011. Did the GJB2 35delG mutation originate in Iran? Am J Med Genet Part A 155A: 2453-2458.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 2453-2458
-
-
Norouzi, V.1
Azizi, H.2
Fattahi, Z.3
Esteghamat, F.4
Bazazzadegan, N.5
Nishimura, C.6
Nikzat, N.7
Jalalvand, K.8
Kahrizi, K.9
Smith, R.J.10
Najmabadi, H.11
-
30
-
-
76049130314
-
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse
-
Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. 2010. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet 86: 148-160.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 148-160
-
-
Odeh, H.1
Hunker, K.L.2
Belyantseva, I.A.3
Azaiez, H.4
Avenarius, M.R.5
Zheng, L.6
Peters, L.M.7
Gagnon, L.H.8
Hagiwara, N.9
Skynner, M.J.10
Brilliant, M.H.11
Allen, N.D.12
Riazuddin, S.13
Johnson, K.R.14
Raphael, Y.15
Najmabadi, H.16
Friedman, T.B.17
Bartles, J.R.18
Smith, R.J.19
Kohrman, D.C.20
more..
-
33
-
-
12744269573
-
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment
-
Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM. 2005. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Clin Genet 67: 61-68.
-
(2005)
Clin Genet
, vol.67
, pp. 61-68
-
-
Santos, R.L.1
Wajid, M.2
Pham, T.L.3
Hussan, J.4
Ali, G.5
Ahmad, W.6
Leal, S.M.7
-
34
-
-
33847407503
-
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function
-
Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Muller U. 2007. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci 27: 2163-2175.
-
(2007)
J Neurosci
, vol.27
, pp. 2163-2175
-
-
Schwander, M.1
Sczaniecka, A.2
Grillet, N.3
Bailey, J.S.4
Avenarius, M.5
Najmabadi, H.6
Steffy, B.M.7
Federe, G.C.8
Lagler, E.A.9
Banan, R.10
Hice, R.11
Grabowski-Boase, L.12
Keithley, E.M.13
Ryan, A.F.14
Housley, G.D.15
Wiltshire, T.16
Smith, R.J.17
Tarantino, L.M.18
Muller, U.19
-
35
-
-
61749084097
-
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family
-
Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. 2009a. A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet Part A 149A: 555-558.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 555-558
-
-
Shearer, A.E.1
Hildebrand, M.S.2
Bromhead, C.J.3
Kahrizi, K.4
Webster, J.A.5
Azadeh, B.6
Kimberling, W.J.7
Anousheh, A.8
Nazeri, A.9
Stephan, D.10
Najmabadi, H.11
Smith, R.J.12
Bahlo, M.13
-
36
-
-
65249156445
-
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
-
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H. 2009b. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope 119: 727-733.
-
(2009)
Laryngoscope
, vol.119
, pp. 727-733
-
-
Shearer, A.E.1
Hildebrand, M.S.2
Webster, J.A.3
Kahrizi, K.4
Meyer, N.C.5
Jalalvand, K.6
Arzhanginy, S.7
Kimberling, W.J.8
Stephan, D.9
Bahlo, M.10
Smith, R.J.11
Najmabadi, H.12
-
37
-
-
84855645034
-
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. 2011. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol 12: 753-766.
-
(2011)
J Assoc Res Otolaryngol
, vol.12
, pp. 753-766
-
-
Weegerink, N.J.1
Schraders, M.2
Oostrik, J.3
Huygen, P.L.4
Strom, T.M.5
Granneman, S.6
Pennings, R.J.7
Venselaar, H.8
Hoefsloot, L.H.9
Elting, M.10
Cremers, C.W.11
Admiraal, R.J.12
Kremer, H.13
Kunst, H.P.14
-
38
-
-
77951713725
-
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus
-
Yang T, Kahrizi K, Bazazzadeghan N, Meyer N, Najmabadi H, Smith RJ. 2010. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet 77: 395-398.
-
(2010)
Clin Genet
, vol.77
, pp. 395-398
-
-
Yang, T.1
Kahrizi, K.2
Bazazzadeghan, N.3
Meyer, N.4
Najmabadi, H.5
Smith, R.J.6
-
39
-
-
9844245885
-
Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. 1997. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6: 1605-1609.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Milá, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
-
40
-
-
34247133469
-
Sensorineural deafness and male infertility: A contiguous gene deletion syndrome
-
Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. 2007. Sensorineural deafness and male infertility: A contiguous gene deletion syndrome. J Med Genet 44: 233-240.
-
(2007)
J Med Genet
, vol.44
, pp. 233-240
-
-
Zhang, Y.1
Malekpour, M.2
Al-Madani, N.3
Kahrizi, K.4
Zanganeh, M.5
Lohr, N.J.6
Mohseni, M.7
Mojahedi, F.8
Daneshi, A.9
Najmabadi, H.10
Smith, R.J.11
|