-
1
-
-
0032878281
-
Diagnostic yield of high-resolution computed tomography for pediatric sensorineural hearing loss
-
Antonelli PJ, Varela AE, Mancuso AA: Diagnostic yield of high-resolution computed tomography for pediatric sensorineural hearing loss. Laryngoscope 1999; 109: 1642-1647.
-
(1999)
Laryngoscope
, vol.109
, pp. 1642-1647
-
-
Antonelli, P.J.1
Varela, A.E.2
Mancuso, A.A.3
-
2
-
-
36349009217
-
Genotype-phenotype correlations for SLC26A4-related deafness
-
Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ: Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet 2007; 122: 451-457.
-
(2007)
Hum Genet
, vol.122
, pp. 451-457
-
-
Azaiez, H.1
Yang, T.2
Prasad, S.3
Sorensen, J.L.4
Nishimura, C.J.5
Kimberling, W.J.6
Smith, R.J.7
-
3
-
-
4844223744
-
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: A large spectrum of mutations in France and phenotypic heterogeneity
-
Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet 2004; 66: 333-340.
-
(2004)
Clin Genet
, vol.66
, pp. 333-340
-
-
Blons, H.1
Feldmann, D.2
Duval, V.3
Messaz, O.4
Denoyelle, F.5
Loundon, N.6
Sergout-Allaoui, A.7
Houang, M.8
Duriez, F.9
Lacombe, D.10
Delobel, B.11
Leman, J.12
Catros, H.13
Journel, H.14
Drouin-Garraud, V.15
Obstoy, M.F.16
Toutain, A.17
Oden, S.18
Toublanc, J.E.19
Couderc, R.20
Petit, C.21
Garabedian, E.N.22
Marlin, S.23
more..
-
4
-
-
0035034863
-
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
-
Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001; 17: 403-411.
-
(2001)
Hum Mutat
, vol.17
, pp. 403-411
-
-
Campbell, C.1
Cucci, R.A.2
Prasad, S.3
Green, G.E.4
Edeal, J.B.5
Galer, C.E.6
Karniski, L.P.7
Sheffield, V.C.8
Smith, R.J.9
-
5
-
-
56749085674
-
PGD of beta-thalassaemia and HLA haplotypes using Omni-Plex whole genome amplification
-
Chen SU, Su YN, Fang MY, Chang LJ, Tsai YY, Lin LT, Lee CN, Yang YS: PGD of beta-thalassaemia and HLA haplotypes using Omni-Plex whole genome amplification. Reprod Biomed Online 2008; 17: 699-705.
-
(2008)
Reprod Biomed Online
, vol.17
, pp. 699-705
-
-
Chen, S.U.1
Su, Y.N.2
Fang, M.Y.3
Chang, L.J.4
Tsai, Y.Y.5
Lin, L.T.6
Lee, C.N.7
Yang, Y.S.8
-
6
-
-
72749088921
-
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes
-
Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ: Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet 2009; 46: 856-861.
-
(2009)
J Med Genet
, vol.46
, pp. 856-861
-
-
Choi, B.Y.1
Madeo, A.C.2
King, K.A.3
Zalewski, C.K.4
Pryor, S.P.5
Muskett, J.A.6
Nance, W.E.7
Butman, J.A.8
Brewer, C.C.9
Griffith, A.J.10
-
7
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997; 17: 411-422.
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
Idol, J.R.4
Buchs, A.5
Heyman, M.6
Adawi, F.7
Hazani, E.8
Nassir, E.9
Baxevanis, A.D.10
Sheffield, V.C.11
Green, E.D.12
-
8
-
-
56749158457
-
ESHRE PGD Consortium data collection VIII: Cycles from January to December 2005 with pregnancy follow-up to October 2006
-
Goossens V, Harton G, Moutou C, Scriven PN, Traeger-Synodinos J, Sermon K, Harper JC: ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum Reprod 2008; 23: 2629-2645.
-
(2008)
Hum Reprod
, vol.23
, pp. 2629-2645
-
-
Goossens, V.1
Harton, G.2
Moutou, C.3
Scriven, P.N.4
Traeger-Synodinos, J.5
Sermon, K.6
Harper, J.C.7
-
9
-
-
59349118706
-
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
-
Hilgert N, Smith RJ, Van Camp G: Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009; 681: 189-196.
-
(2009)
Mutat Res
, vol.681
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.J.2
Van Camp, G.3
-
10
-
-
44249090030
-
Prospective comparison of short and long GnRH agonist protocols using recombinant gonadotrophins for IVF/ICSI treatments
-
Ho CH, Chen SU, Peng FS, Chang CY, Lien YR, Yang YS: Prospective comparison of short and long GnRH agonist protocols using recombinant gonadotrophins for IVF/ICSI treatments. Reprod Biomed Online 2008; 16: 632-639.
-
(2008)
Reprod Biomed Online
, vol.16
, pp. 632-639
-
-
Ho, C.H.1
Chen, S.U.2
Peng, F.S.3
Chang, C.Y.4
Lien, Y.R.5
Yang, Y.S.6
-
11
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998; 18: 215-217.
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
Desmukh, D.4
Friedman, T.B.5
Green, E.D.6
Wilcox, E.R.7
-
12
-
-
0036139074
-
Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss
-
Mafong DD, Shin EJ, Lalwani AK: Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope 2002; 112: 1-7.
-
(2002)
Laryngoscope
, vol.112
, pp. 1-7
-
-
Mafong, D.D.1
Shin, E.J.2
Lalwani, A.K.3
-
13
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, Jang HS, Moon SK, Lee SC, Chun YM, Lee HK, Choi JY, Jung SC, Griffith AJ, Koo SK: Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 2005; 67: 160-165.
-
(2005)
Clin Genet
, vol.67
, pp. 160-165
-
-
Park, H.J.1
Lee, S.J.2
Jin, H.S.3
Lee, J.O.4
Go, S.H.5
Jang, H.S.6
Moon, S.K.7
Lee, S.C.8
Chun, Y.M.9
Lee, H.K.10
Choi, J.Y.11
Jung, S.C.12
Griffith, A.J.13
Koo, S.K.14
-
14
-
-
0036119697
-
Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of haematopoietic stem cells to a sibling
-
Pennings G, Schots R, Liebaers I: Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of haematopoietic stem cells to a sibling. Hum Reprod 2002; 17: 534-538.
-
(2002)
Hum Reprod
, vol.17
, pp. 534-538
-
-
Pennings, G.1
Schots, R.2
Liebaers, I.3
-
15
-
-
0036716038
-
Preimplantation genetic diagnosis for cancer predisposition
-
Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C, Kuliev A, Verlinsky Y: Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online 2002; 5: 148-155.
-
(2002)
Reprod Biomed Online
, vol.5
, pp. 148-155
-
-
Rechitsky, S.1
Verlinsky, O.2
Chistokhina, A.3
Sharapova, T.4
Ozen, S.5
Masciangelo, C.6
Kuliev, A.7
Verlinsky, Y.8
-
16
-
-
33846281934
-
Preimplantation genetic diagnosis for monogenic diseases: Overview and emerging issues
-
Renwick P, Ogilvie CM: Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev Mol Diagn 2007; 7: 33-43.
-
(2007)
Expert Rev Mol Diagn
, vol.7
, pp. 33-43
-
-
Renwick, P.1
Ogilvie, C.M.2
-
17
-
-
0043281508
-
Extending preimplantation genetic diagnosis: Medical and non-medical uses
-
Robertson JA: Extending preimplantation genetic diagnosis: medical and non-medical uses. J Med Ethics 2003; 29: 213-216.
-
(2003)
J Med Ethics
, vol.29
, pp. 213-216
-
-
Robertson, J.A.1
-
18
-
-
0141642025
-
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC
-
Su YN, Lee CN, Hung CC, Chen CA, Cheng WF, Tsao PN, Yu CL, Hsieh FJ: Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. Hum Mutat 2003; 22: 326-336.
-
(2003)
Hum Mutat
, vol.22
, pp. 326-336
-
-
Su, Y.N.1
Lee, C.N.2
Hung, C.C.3
Chen, C.A.4
Cheng, W.F.5
Tsao, P.N.6
Yu, C.L.7
Hsieh, F.J.8
-
19
-
-
0346025681
-
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese
-
Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 2003; 11: 916-922.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 916-922
-
-
Tsukamoto, K.1
Suzuki, H.2
Harada, D.3
Namba, A.4
Abe, S.5
Usami, S.6
-
20
-
-
0037181166
-
Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation
-
Verlinsky Y, Rechitsky S, Verlinsky O, Masciangelo C, Lederer K, Kuliev A: Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. JAMA 2002; 287: 1018-1021.
-
(2002)
JAMA
, vol.287
, pp. 1018-1021
-
-
Verlinsky, Y.1
Rechitsky, S.2
Verlinsky, O.3
Masciangelo, C.4
Lederer, K.5
Kuliev, A.6
-
21
-
-
34548131103
-
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
-
Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, Guan J, Xu BC, Wang DY, Han MK, Lan L, Zhai SQ, Shen Y: A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 2007; 72: 245-254.
-
(2007)
Clin Genet
, vol.72
, pp. 245-254
-
-
Wang, Q.J.1
Zhao, Y.L.2
Rao, S.Q.3
Guo, Y.F.4
Yuan, H.5
Zong, L.6
Guan, J.7
Xu, B.C.8
Wang, D.Y.9
Han, M.K.10
Lan, L.11
Zhai, S.Q.12
Shen, Y.13
-
22
-
-
84984538388
-
Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations
-
Wu CC, Chen PJ, Hsu CJ: Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. Audiol Neurootol 2005a;10: 234-242.
-
(2005)
Audiol Neurootol
, vol.10
, pp. 234-242
-
-
Wu, C.C.1
Chen, P.J.2
Hsu, C.J.3
-
23
-
-
84984586034
-
Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia
-
Wu CC, Chen YS, Chen PJ, Hsu CJ: Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia. Laryngoscope 2005b;115: 132-137.
-
(2005)
Laryngoscope
, vol.115
, pp. 132-137
-
-
Wu, C.C.1
Chen, Y.S.2
Chen, P.J.3
Hsu, C.J.4
-
24
-
-
84984593150
-
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral non-syndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome
-
Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ: Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral non-syndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Audiol Neurootol 2009; 15: 57-66.
-
(2009)
Audiol Neurootol
, vol.15
, pp. 57-66
-
-
Wu, C.C.1
Lu, Y.C.2
Chen, P.J.3
Yeh, P.L.4
Su, Y.N.5
Hwu, W.L.6
Hsu, C.J.7
-
25
-
-
84984550566
-
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan including a frequent founder mutation
-
Wu CC, Yeh TH, Chen PJ, Hsu CJ: Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope 2005c;15: 1060-1064.
-
(2005)
Laryngoscope
, vol.15
, pp. 1060-1064
-
-
Wu, C.C.1
Yeh, T.H.2
Chen, P.J.3
Hsu, C.J.4
-
26
-
-
34250803246
-
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
-
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ: Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 2007; 80: 1055-1063.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 1055-1063
-
-
Yang, T.1
Vidarsson, H.2
Rodrigo-Blomqvist, S.3
Rosengren, S.S.4
Enerback, S.5
Smith, R.J.6
-
27
-
-
65549110378
-
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome
-
Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ: Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet 2009; 84: 651-657.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 651-657
-
-
Yang, T.1
Gurrola, I.I.J.G.2
Wu, H.3
Chiu, S.M.4
Wangemann, P.5
Snyder, P.M.6
Smith, R.J.7
|