-
1
-
-
0027180952
-
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
-
Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, et al. (1993) Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 46: 486-491.
-
(1993)
Am J Med Genet
, vol.46
, pp. 486-491
-
-
Marazita, M.L.1
Ploughman, L.M.2
Rawlings, B.3
Remington, E.4
Arnos, K.S.5
-
3
-
-
84862777457
-
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities
-
Lin X, Tang W, Ahmad S, Lu J, Colby CC, et al. (2012) Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res 288: 67-76.
-
(2012)
Hear Res
, vol.288
, pp. 67-76
-
-
Lin, X.1
Tang, W.2
Ahmad, S.3
Lu, J.4
Colby, C.C.5
-
4
-
-
0033600946
-
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
-
Cohn ES, Kelley PM, (1999) Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 89: 130-136.
-
(1999)
Am J Med Genet
, vol.89
, pp. 130-136
-
-
Cohn, E.S.1
Kelley, P.M.2
-
5
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
-
Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, et al. (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 8: 19-23.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
Melchionda, S.4
Petersen, M.5
-
6
-
-
48449103433
-
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients
-
Lee KY, Choi SY, Bae JW, Kim S, Chung KW, et al. (2008) Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol 72: 1301-1309.
-
(2008)
Int J Pediatr Otorhinolaryngol
, vol.72
, pp. 1301-1309
-
-
Lee, K.Y.1
Choi, S.Y.2
Bae, J.W.3
Kim, S.4
Chung, K.W.5
-
7
-
-
10744230689
-
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
-
Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, et al. (2003) Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet 114: 44-50.
-
(2003)
Hum Genet
, vol.114
, pp. 44-50
-
-
Yan, D.1
Park, H.J.2
Ouyang, X.M.3
Pandya, A.4
Doi, K.5
-
8
-
-
84862279330
-
Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic
-
Shin J-W, Lee S-C, Lee H-K, Park H-J, (2012) Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic. Clin Exp Otorhinolar 5: S10-S13.
-
(2012)
Clin Exp Otorhinolar
, vol.5
-
-
Shin, J.-W.1
Lee, S.-C.2
Lee, H.-K.3
Park, H.-J.4
-
9
-
-
0037390447
-
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
-
Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, et al. (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40: 242-248.
-
(2003)
J Med Genet
, vol.40
, pp. 242-248
-
-
Park, H.J.1
Shaukat, S.2
Liu, X.Z.3
Hahn, S.H.4
Naz, S.5
-
10
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, et al. (2005) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 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
-
11
-
-
48749093757
-
Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss
-
Bae JW, Lee KY, Choi SY, Lee SH, Park HJ, et al. (2008) Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss. Int J Mol Med 22: 175-180.
-
(2008)
Int J Mol Med
, vol.22
, pp. 175-180
-
-
Bae, J.W.1
Lee, K.Y.2
Choi, S.Y.3
Lee, S.H.4
Park, H.J.5
-
12
-
-
84864643298
-
Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation
-
Bae JW, Kim DB, Choi JY, Park HJ, Lee JD, et al. (2012) Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation. PLoS One 7: e42463.
-
(2012)
PLoS One
, vol.7
-
-
Bae, J.W.1
Kim, D.B.2
Choi, J.Y.3
Park, H.J.4
Lee, J.D.5
-
13
-
-
0036730525
-
Functional study of GJB2 in hereditary hearing loss
-
Choung YH, Moon SK, Park HJ, (2002) Functional study of GJB2 in hereditary hearing loss. Laryngoscope 112: 1667-1671.
-
(2002)
Laryngoscope
, vol.112
, pp. 1667-1671
-
-
Choung, Y.H.1
Moon, S.K.2
Park, H.J.3
-
14
-
-
79251600222
-
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
-
Guan MX, (2011) Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion 11: 237-245.
-
(2011)
Mitochondrion
, vol.11
, pp. 237-245
-
-
Guan, M.X.1
-
15
-
-
47149095245
-
Heterogeneity in the processing defect of SLC26A4 mutants
-
Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, et al. (2008) Heterogeneity in the processing defect of SLC26A4 mutants. J Med Genet 45: 411-419.
-
(2008)
J Med Genet
, vol.45
, pp. 411-419
-
-
Yoon, J.S.1
Park, H.J.2
Yoo, S.Y.3
Namkung, W.4
Jo, M.J.5
-
16
-
-
78649812501
-
Salicylate restores transport function and anion exchanger activity of missense pendrin mutations
-
Ishihara K, Okuyama S, Kumano S, Iida K, Hamana H, et al. (2010) Salicylate restores transport function and anion exchanger activity of missense pendrin mutations. Hear Res 270: 110-118.
-
(2010)
Hear Res
, vol.270
, pp. 110-118
-
-
Ishihara, K.1
Okuyama, S.2
Kumano, S.3
Iida, K.4
Hamana, H.5
-
17
-
-
82255167146
-
Molecular and functional characterization of human pendrin and its allelic variants
-
Dossena S, Nofziger C, Tamma G, Bernardinelli E, Vanoni S, et al. (2011) Molecular and functional characterization of human pendrin and its allelic variants. Cell Physiol Biochem 28: 451-466.
-
(2011)
Cell Physiol Biochem
, vol.28
, pp. 451-466
-
-
Dossena, S.1
Nofziger, C.2
Tamma, G.3
Bernardinelli, E.4
Vanoni, S.5
-
18
-
-
0036283790
-
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome
-
Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC, (2002) Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab 87: 1778-1784.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1778-1784
-
-
Taylor, J.P.1
Metcalfe, R.A.2
Watson, P.F.3
Weetman, A.P.4
Trembath, R.C.5
-
19
-
-
9644302614
-
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene
-
Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, et al. (2005) Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res 199: 22-30.
-
(2005)
Hear Res
, vol.199
, pp. 22-30
-
-
Yang, J.J.1
Tsai, C.C.2
Hsu, H.M.3
Shiao, J.Y.4
Su, C.C.5
-
20
-
-
0032234771
-
Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis
-
Smith WM, Van Orsouw NJ, Fox EA, Kolodner RD, Vijg J, et al. (1998) Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis. Genet Test 2: 43-53.
-
(1998)
Genet Test
, vol.2
, pp. 43-53
-
-
Smith, W.M.1
Van Orsouw, N.J.2
Fox, E.A.3
Kolodner, R.D.4
Vijg, J.5
-
21
-
-
79251593331
-
A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups
-
Paneto GG, Kohnemann S, Martins JA, Cicarelli RM, Pfeiffer H, (2011) A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups. Mitochondrion 11: 296-302.
-
(2011)
Mitochondrion
, vol.11
, pp. 296-302
-
-
Paneto, G.G.1
Kohnemann, S.2
Martins, J.A.3
Cicarelli, R.M.4
Pfeiffer, H.5
-
22
-
-
33645824107
-
Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification
-
Grignani P, Peloso G, Achilli A, Turchi C, Tagliabracci A, et al. (2006) Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification. Int J Legal Med 120: 151-156.
-
(2006)
Int J Legal Med
, vol.120
, pp. 151-156
-
-
Grignani, P.1
Peloso, G.2
Achilli, A.3
Turchi, C.4
Tagliabracci, A.5
-
23
-
-
49649118297
-
Authentication of meat from game and domestic species by SNaPshot minisequencing analysis
-
La Neve F, Civera T, Mucci N, Bottero MT, (2008) Authentication of meat from game and domestic species by SNaPshot minisequencing analysis. Meat Sci 80: 216-224.
-
(2008)
Meat Sci
, vol.80
, pp. 216-224
-
-
La Neve, F.1
Civera, T.2
Mucci, N.3
Bottero, M.T.4
-
24
-
-
79959801039
-
Application of the SNaPshot minisequencing assay to species identification in the Lactobacillus casei group
-
Huang CH, Chang MT, Huang MC, Lee FL, (2011) Application of the SNaPshot minisequencing assay to species identification in the Lactobacillus casei group. Mol Cell Probes 25: 153-157.
-
(2011)
Mol Cell Probes
, vol.25
, pp. 153-157
-
-
Huang, C.H.1
Chang, M.T.2
Huang, M.C.3
Lee, F.L.4
-
25
-
-
0038825355
-
The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders
-
Fiorentino F, Magli MC, Podini D, Ferraretti AP, Nuccitelli A, et al. (2003) The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 9: 399-410.
-
(2003)
Mol Hum Reprod
, vol.9
, pp. 399-410
-
-
Fiorentino, F.1
Magli, M.C.2
Podini, D.3
Ferraretti, A.P.4
Nuccitelli, A.5
-
26
-
-
0042466547
-
Congenital adrenal hyperplasia
-
Speiser PW, White PC, (2003) Congenital adrenal hyperplasia. N Engl J Med 349: 776-788.
-
(2003)
N Engl J Med
, vol.349
, pp. 776-788
-
-
Speiser, P.W.1
White, P.C.2
-
27
-
-
80053419501
-
PIK3CA mutation is an independent indicator of malignant phenotype and prognosis in breast cancer
-
Li SY, Wang W, Li JM, Wang Z, Wen RY, et al. (2011) PIK3CA mutation is an independent indicator of malignant phenotype and prognosis in breast cancer. Zhonghua Zhong Liu Za Zhi 33: 605-608.
-
(2011)
Zhonghua Zhong Liu Za Zhi
, vol.33
, pp. 605-608
-
-
Li, S.Y.1
Wang, W.2
Li, J.M.3
Wang, Z.4
Wen, R.Y.5
-
28
-
-
84862214814
-
C3435T polymorphism of the ABCB1/MDR1 gene encoding P-glycoprotein in patients with inflammatory bowel disease in a Polish population
-
Dudarewicz M, Baranska M, Rychlik-Sych M, Trzcinski R, Dziki A, et al. (2012) C3435T polymorphism of the ABCB1/MDR1 gene encoding P-glycoprotein in patients with inflammatory bowel disease in a Polish population. Pharmacol Rep 64: 343-350.
-
(2012)
Pharmacol Rep
, vol.64
, pp. 343-350
-
-
Dudarewicz, M.1
Baranska, M.2
Rychlik-Sych, M.3
Trzcinski, R.4
Dziki, A.5
-
29
-
-
84864109520
-
CYP3A5 polymorphism in Mexican renal transplant recipients and its association with tacrolimus dosing
-
Garcia-Roca P, Medeiros M, Reyes H, Rodriguez-Espino BA, Alberu J, et al. (2012) CYP3A5 polymorphism in Mexican renal transplant recipients and its association with tacrolimus dosing. Arch Med Res 43: 283-287.
-
(2012)
Arch Med Res
, vol.43
, pp. 283-287
-
-
Garcia-Roca, P.1
Medeiros, M.2
Reyes, H.3
Rodriguez-Espino, B.A.4
Alberu, J.5
-
30
-
-
84863215020
-
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
-
Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, et al. (2012) Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. PLoS One 7: e35706.
-
(2012)
PLoS One
, vol.7
-
-
Kirchhoff, T.1
Gaudet, M.M.2
Antoniou, A.C.3
McGuffog, L.4
Humphreys, M.K.5
-
31
-
-
84863235638
-
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
-
Song MJ, Lee ST, Lee MK, Ji Y, Kim JW, et al. (2011) Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population. J Hum Genet 57: 139-144.
-
(2011)
J Hum Genet
, vol.57
, pp. 139-144
-
-
Song, M.J.1
Lee, S.T.2
Lee, M.K.3
Ji, Y.4
Kim, J.W.5
-
32
-
-
57349131522
-
Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
-
Han SH, Park HJ, Kang EJ, Ryu JS, Lee A, et al. (2008) Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J Hum Genet 53: 1022-1028.
-
(2008)
J Hum Genet
, vol.53
, pp. 1022-1028
-
-
Han, S.H.1
Park, H.J.2
Kang, E.J.3
Ryu, J.S.4
Lee, A.5
-
33
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN, (2000) Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 110: 1535-1538.
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
Park, K.4
Kim, H.N.5
-
34
-
-
70350726320
-
[Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism]
-
Zhao J, Wu LQ, Feng Y, Hu H, Pan Q, et al. (2009) [Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26: 518-520.
-
(2009)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.26
, pp. 518-520
-
-
Zhao, J.1
Wu, L.Q.2
Feng, Y.3
Hu, H.4
Pan, Q.5
-
35
-
-
77950215268
-
Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss
-
Kato T, Nishigaki Y, Noguchi Y, Ueno H, Hosoya H, et al. (2010) Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. J Hum Genet 55: 147-154.
-
(2010)
J Hum Genet
, vol.55
, pp. 147-154
-
-
Kato, T.1
Nishigaki, Y.2
Noguchi, Y.3
Ueno, H.4
Hosoya, H.5
-
36
-
-
77951005833
-
Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population
-
Kokotas H, Grigoriadou M, Hatzaki A, Antoniadi T, Giannoulia-Karantana A, et al. (2010) Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population. Genet Test Mol Biomarkers 14: 189-192.
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 189-192
-
-
Kokotas, H.1
Grigoriadou, M.2
Hatzaki, A.3
Antoniadi, T.4
Giannoulia-Karantana, A.5
-
37
-
-
59049094488
-
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness
-
Bardien S, Human H, Harris T, Hefke G, Veikondis R, et al. (2009) A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. BMC Med Genet 10: 2.
-
(2009)
BMC Med Genet
, vol.10
, pp. 2
-
-
Bardien, S.1
Human, H.2
Harris, T.3
Hefke, G.4
Veikondis, R.5
-
38
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, et al. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
-
(1997)
Lancet
, vol.350
, pp. 485-487
-
-
Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
-
39
-
-
0036140193
-
Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma
-
Poon LL, Leung TN, Lau TK, Chow KC, Lo YM, (2002) Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem 48: 35-41.
-
(2002)
Clin Chem
, vol.48
, pp. 35-41
-
-
Poon, L.L.1
Leung, T.N.2
Lau, T.K.3
Chow, K.C.4
Lo, Y.M.5
|