-
1
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
N.E. Morton Genetic epidemiology of hearing impairment Ann N Y Acad Sci 630 1991 16 31
-
(1991)
Ann N y Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
2
-
-
3042520840
-
Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness
-
S. Ben Arab, S. Masmoudi, N. Beltaief, S. Hachicha, and H. Ayadi Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness Genet Epidemiol 27 2004 74 79
-
(2004)
Genet Epidemiol
, vol.27
, pp. 74-79
-
-
Ben Arab, S.1
Masmoudi, S.2
Beltaief, N.3
Hachicha, S.4
Ayadi, H.5
-
3
-
-
33748612427
-
Detection of mutations in genes associated with hearing loss using a microarray-based approach
-
K. Siemering, S.S. Manji, W.M. Hutchison, D. Du Sart, D. Phelan, and H.H. Dahl Detection of mutations in genes associated with hearing loss using a microarray-based approach J Mol Diagn 8 2006 483 489
-
(2006)
J Mol Diagn
, vol.8
, pp. 483-489
-
-
Siemering, K.1
Manji, S.S.2
Hutchison, W.M.3
Du Sart, D.4
Phelan, D.5
Dahl, H.H.6
-
4
-
-
33746845210
-
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: A new approach for newborn screening follow-up
-
P. Gardner, E. Oitmaa, A. Messner, L. Hoefsloot, A. Metspalu, and I. Schrijver Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up Pediatrics 118 2006 985 994
-
(2006)
Pediatrics
, vol.118
, pp. 985-994
-
-
Gardner, P.1
Oitmaa, E.2
Messner, A.3
Hoefsloot, L.4
Metspalu, A.5
Schrijver, I.6
-
5
-
-
33847282820
-
Development of a genotyping microarray for Usher syndrome
-
F.P. Cremers, W.J. Kimberling, M. Külm, A.P. de Brouwer, E. van Wijk, H. te Brinke, C.W. Cremers, L.H. Hoefsloot, S. Banfi, F. Simonelli, J.C. Fleischhauer, W. Berger, P.M. Kelley, E. Haralambous, M. Bitner-Glindzicz, A.R. Webster, Z. Saihan, E. De Baere, B.P. Leroy, G. Silvestri, G.J. McKay, R.K. Koenekoop, J.M. Millan, T. Rosenberg, T. Joensuu, E.M. Sankila, D. Weil, M.D. Weston, B. Wissinger, and H. Kremer Development of a genotyping microarray for Usher syndrome J Med Genet 44 2007 153 160
-
(2007)
J Med Genet
, vol.44
, pp. 153-160
-
-
Cremers, F.P.1
Kimberling, W.J.2
Külm, M.3
De Brouwer, A.P.4
Van Wijk, E.5
Te Brinke, H.6
Cremers, C.W.7
Hoefsloot, L.H.8
Banfi, S.9
Simonelli, F.10
Fleischhauer, J.C.11
Berger, W.12
Kelley, P.M.13
Haralambous, E.14
Bitner-Glindzicz, M.15
Webster, A.R.16
Saihan, Z.17
De Baere, E.18
Leroy, B.P.19
Silvestri, G.20
McKay, G.J.21
Koenekoop, R.K.22
Millan, J.M.23
Rosenberg, T.24
Joensuu, T.25
Sankila, E.M.26
Weil, D.27
Weston, M.D.28
Wissinger, B.29
Kremer, H.30
more..
-
6
-
-
38949112966
-
Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening
-
C.X. Li, Q. Pan, Y.G. Guo, Y. Li, H.F. Gao, D. Zhang, H. Hu, W.L. Xing, K. Mitchelson, K. Xia, P. Dai, and J. Cheng Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening Hum Mutat 29 2008 306 314
-
(2008)
Hum Mutat
, vol.29
, pp. 306-314
-
-
Li, C.X.1
Pan, Q.2
Guo, Y.G.3
Li, Y.4
Gao, H.F.5
Zhang, D.6
Hu, H.7
Xing, W.L.8
Mitchelson, K.9
Xia, K.10
Dai, P.11
Cheng, J.12
-
7
-
-
76949091761
-
Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss
-
S.Y. Choi, K.Y. Lee, Y.E. Kim, J.W. Bae, S.K. Oh, S.Y. Kim, S.J. Hwang, U.K. Kim, and S.H. Lee Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss Int J Mol Med 25 2010 315 320
-
(2010)
Int J Mol Med
, vol.25
, pp. 315-320
-
-
Choi, S.Y.1
Lee, K.Y.2
Kim, Y.E.3
Bae, J.W.4
Oh, S.K.5
Kim, S.Y.6
Hwang, S.J.7
Kim, U.K.8
Lee, S.H.9
-
8
-
-
84855926523
-
Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China
-
C. Qua, X. Sun, Y. Shi, A. Gong, S. Liang, M. Zhao, Y. Chen, and F. Liang Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China Int J Pediatr Otorhinolaryngol 76 2012 235 239
-
(2012)
Int J Pediatr Otorhinolaryngol
, vol.76
, pp. 235-239
-
-
Qua, C.1
Sun, X.2
Shi, Y.3
Gong, A.4
Liang, S.5
Zhao, M.6
Chen, Y.7
Liang, F.8
-
9
-
-
84869106745
-
Consanguineous marriages: Preconception consultation in primary health care settings
-
H. Hamamy Consanguineous marriages: preconception consultation in primary health care settings J Community Genet 3 2012 185 192
-
(2012)
J Community Genet
, vol.3
, pp. 185-192
-
-
Hamamy, H.1
-
10
-
-
0031728855
-
Language of early- and later-identified children with hearing loss
-
C. Yoshinaga-Itano, A.L. Sedey, D.K. Coulter, and A.L. Mehl Language of early- and later-identified children with hearing loss Pediatrics 102 1998 1161 1171
-
(1998)
Pediatrics
, vol.102
, pp. 1161-1171
-
-
Yoshinaga-Itano, C.1
Sedey, A.L.2
Coulter, D.K.3
Mehl, A.L.4
-
11
-
-
22244457367
-
Analysis of GJB2 mutation: Evidence for a Mediterranean ancestor for the 35delG mutation
-
H. Belguith, S. Hajji, N. Salem, I. Charfeddine, I. Lahmar, M.B. Amor, K. Ouldim, E. Chouery, N. Driss, M. Drira, A. Mégarbané, A. Rebai, A. Sefiani, S. Masmoudi, and H. Ayadi Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation Clin Genet 68 2005 188 189
-
(2005)
Clin Genet
, vol.68
, pp. 188-189
-
-
Belguith, H.1
Hajji, S.2
Salem, N.3
Charfeddine, I.4
Lahmar, I.5
Amor, M.B.6
Ouldim, K.7
Chouery, E.8
Driss, N.9
Drira, M.10
Mégarbané, A.11
Rebai, A.12
Sefiani, A.13
Masmoudi, S.14
Ayadi, H.15
-
12
-
-
77954603950
-
Two missense mutations in SLC26A4 gene: A molecular and functional study
-
I.B. Rebeh, N. Yoshimi, H. Hadj-Kacem, S. Yanohco, B. Hammami, M. Mnif, M. Araki, A. Ghorbel, H. Ayadi, S. Masmoudi, and H. Miyazaki Two missense mutations in SLC26A4 gene: a molecular and functional study Clin Genet 78 2010 74 80
-
(2010)
Clin Genet
, vol.78
, pp. 74-80
-
-
Rebeh, I.B.1
Yoshimi, N.2
Hadj-Kacem, H.3
Yanohco, S.4
Hammami, B.5
Mnif, M.6
Araki, M.7
Ghorbel, A.8
Ayadi, H.9
Masmoudi, S.10
Miyazaki, H.11
-
13
-
-
77954912153
-
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects
-
M. Ben Saïd, M. Hmani-Aifa, I. Amar, S.M. Baig, M. Mustapha, S. Delmaghani, A. Tlili, A. Ghorbel, H. Ayadi, G. Van Camp, R.J. Smith, M. Tekin, and S. Masmoudi High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects Genet Test Mol Biomarkers 14 2010 307 311
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 307-311
-
-
Ben Saïd, M.1
Hmani-Aifa, M.2
Amar, I.3
Baig, S.M.4
Mustapha, M.5
Delmaghani, S.6
Tlili, A.7
Ghorbel, A.8
Ayadi, H.9
Van Camp, G.10
Smith, R.J.11
Tekin, M.12
Masmoudi, S.13
-
14
-
-
84984930451
-
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
-
Z.M. Ahmed, S. Masmoudi, E. Kalay, I.A. Belyantseva, M.A. Mosrati, R.W. Collin, S. Riazuddin, M. Hmani-Aifa, H. Venselaar, M.N. Kawar, A. Tlili, B. van der Zwaag, S.Y. Khan, L. Ayadi, S.A. Riazuddin, R.J. Morell, A.J. Griffith, I. Charfedine, R. Caylan, J. Oostrik, A. Karaguzel, A. Ghorbel, S. Riazuddin, T.B. Friedman, H. Ayadi, and H. Kremer Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans Nat Genet 40 2008 1335 1340
-
(2008)
Nat Genet
, vol.40
, pp. 1335-1340
-
-
Ahmed, Z.M.1
Masmoudi, S.2
Kalay, E.3
Belyantseva, I.A.4
Mosrati, M.A.5
Collin, R.W.6
Riazuddin, S.7
Hmani-Aifa, M.8
Venselaar, H.9
Kawar, M.N.10
Tlili, A.11
Van Der Zwaag, B.12
Khan, S.Y.13
Ayadi, L.14
Riazuddin, S.A.15
Morell, R.J.16
Griffith, A.J.17
Charfedine, I.18
Caylan, R.19
Oostrik, J.20
Karaguzel, A.21
Ghorbel, A.22
Riazuddin, S.23
Friedman, T.B.24
Ayadi, H.25
Kremer, H.26
more..
-
15
-
-
85027931058
-
The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population
-
M. Charif, S. Bounaceur, O. Abidi, H. Nahili, H. Rouba, M. Kandil, R. Boulouiz, and A. Barakat The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population Mol Biol Rep 39 2012 11011 11016
-
(2012)
Mol Biol Rep
, vol.39
, pp. 11011-11016
-
-
Charif, M.1
Bounaceur, S.2
Abidi, O.3
Nahili, H.4
Rouba, H.5
Kandil, M.6
Boulouiz, R.7
Barakat, A.8
-
16
-
-
84861142633
-
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
-
S. De Keulenaer, J. Hellemans, S. Lefever, J.P. Renard, J. De Schrijver, H. Van de Voorde, M.A. Tabatabaiefar, F. Van Nieuwerburgh, D. Flamez, F. Pattyn, B. Scharlaken, D. Deforce, S. Bekaert, W. Van Criekinge, J. Vandesompele, G. Van Camp, and P. Coucke Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform BMC Med Genomics 5 2012 17
-
(2012)
BMC Med Genomics
, vol.5
, pp. 17
-
-
De Keulenaer, S.1
Hellemans, J.2
Lefever, S.3
Renard, J.P.4
De Schrijver, J.5
Van De Voorde, H.6
Tabatabaiefar, M.A.7
Van Nieuwerburgh, F.8
Flamez, D.9
Pattyn, F.10
Scharlaken, B.11
Deforce, D.12
Bekaert, S.13
Van Criekinge, W.14
Vandesompele, J.15
Van Camp, G.16
Coucke, P.17
-
17
-
-
84886216330
-
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: A cross-sectional, multi-center next-generation sequencing study
-
H. Mutai, N. Suzuki, A. Shimizu, C. Torii, K. Namba, N. Morimoto, J. Kudoh, K. Kaga, K. Kosaki, and T. Matsunaga Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study Orphanet J Rare Dis 8 2013 172
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 172
-
-
Mutai, H.1
Suzuki, N.2
Shimizu, A.3
Torii, C.4
Namba, K.5
Morimoto, N.6
Kudoh, J.7
Kaga, K.8
Kosaki, K.9
Matsunaga, T.10
-
18
-
-
84884385307
-
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss
-
M. Shahzad, T.A. Sivakumaran, T.A. Qaiser, J.M. Schultz, Z. Hussain, M. Flanagan, M.A. Bhinder, D. Kissell, J.H. Greinwald Jr., S.N. Khan, T.B. Friedman, K. Zhang, S. Riazuddin, S. Riazuddin, and Z.M. Ahmed Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss Otolaryngol Head Neck Surg 149 2013 478 487
-
(2013)
Otolaryngol Head Neck Surg
, vol.149
, pp. 478-487
-
-
Shahzad, M.1
Sivakumaran, T.A.2
Qaiser, T.A.3
Schultz, J.M.4
Hussain, Z.5
Flanagan, M.6
Bhinder, M.A.7
Kissell, D.8
Greinwald, J.H.9
Khan, S.N.10
Friedman, T.B.11
Zhang, K.12
Riazuddin, S.13
Riazuddin, S.14
Ahmed, Z.M.15
|