-
1
-
-
84904001135
-
In search of genetic markers for nonsyndromic deafness in Africa: A study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes
-
Bosch J, Lebeko K, Noubiap Nzeale JJ, Dandara C, Makubalo N, and Wonkam A. (2014). In search of genetic markers for nonsyndromic deafness in Africa: A study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. OMICS 18, 481-485.
-
(2014)
OMICS
, vol.18
, pp. 481-485
-
-
Bosch, J.1
Lebeko, K.2
Noubiap Nzeale, J.J.3
Dandara, C.4
Makubalo, N.5
Wonkam, A.6
-
2
-
-
84871009580
-
Wholeexome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
-
Diaz-Horta O, Duman D, Foster J 2nd, et al. (2012). Wholeexome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One 7, e50628.
-
(2012)
PLoS One
, vol.7
, pp. e50628
-
-
Diaz-Horta, O.1
Duman, D.2
Foster, I.I.J.3
-
3
-
-
1442329625
-
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants
-
Gasmelseed NM, Schmidt M, Magzoub MM, et al. (2004). Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. Hum Mutat 23, 206-207.
-
(2004)
Hum Mutat
, vol.23
, pp. 206-207
-
-
Gasmelseed, N.M.1
Schmidt, M.2
Magzoub, M.M.3
-
4
-
-
0035232752
-
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
-
Hamelmann C, Amedofu GK, Albrecht K, et al. (2001). Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 18, 84-85.
-
(2001)
Hum Mutat
, vol.18
, pp. 84-85
-
-
Hamelmann, C.1
Amedofu, G.K.2
Albrecht, K.3
-
5
-
-
79954630324
-
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population
-
Kabahuma RI, Ouyang X, Du LL, et al. (2011). Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. Int J Pediatr Otorhinolaryngol 75, 611-617.
-
(2011)
Int J Pediatr Otorhinolaryngol
, vol.75
, pp. 611-617
-
-
Kabahuma, R.I.1
Ouyang, X.2
Du, L.L.3
-
6
-
-
34247342194
-
Keratitis-ichthyosis-deafness syndrome: Disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
-
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, et al. (2007). Keratitis-ichthyosis-deafness syndrome: Disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 156, 1015-1019.
-
(2007)
Br J Dermatol.
, vol.156
, pp. 1015-1019
-
-
Mazereeuw-Hautier, J.1
Bitoun, E.2
Chevrant-Breton, J.3
-
7
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. (1998). N Engl J Med 339, 1500-1505.
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
-
8
-
-
67749084110
-
Place of birth and characteristics of infants with congenital and early-onset hearing loss in a developing country
-
Olusanya BO, and Somefun AO. (2009). Place of birth and characteristics of infants with congenital and early-onset hearing loss in a developing country. Int J Pediatr Otorhinolaryngol 73, 1263-1269.
-
(2009)
Int J Pediatr Otorhinolaryngol
, vol.73
, pp. 1263-1269
-
-
Olusanya, B.O.1
Somefun, A.O.2
-
9
-
-
10744224474
-
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
-
Pandya A, Arnos KS, Xia XJ, et al. (2003). Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 5, 295-303.
-
(2003)
Genet Med
, vol.5
, pp. 295-303
-
-
Pandya, A.1
Arnos, K.S.2
Xia, X.J.3
-
10
-
-
0034098926
-
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
-
Rabionet R, Zelante L, López-Bigas N, et al. (2000). Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 106, 40-44.
-
(2000)
Hum Genet
, vol.106
, pp. 40-44
-
-
Rabionet, R.1
Zelante, L.2
López-Bigas, N.3
-
11
-
-
34147185848
-
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment
-
Samanich J, Lowes C, Burk R, et al. (2007). Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A 143A, 830-838.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 830-838
-
-
Samanich, J.1
Lowes, C.2
Burk, R.3
-
12
-
-
78650506429
-
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
-
Shearer AE, DeLuca AP, Hildebrand MS, et al. (2010). Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA.107, 21104-21109.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 21104-21109
-
-
Shearer, A.E.1
Deluca, A.P.2
Hildebrand, M.S.3
-
14
-
-
66249116333
-
The genetic structure and history of Africans and African Americans
-
Tishkoff SA, Reed FA, Friedlaender FR, et al. (2009). The genetic structure and history of Africans and African Americans. Science 324, 1035-1044.
-
(2009)
Science
, vol.324
, pp. 1035-1044
-
-
Tishkoff, S.A.1
Reed, F.A.2
Friedlaender, F.R.3
-
15
-
-
79251623344
-
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon
-
Trotta L, Iacona E, Primignani P, et al. (2011). GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon. Int J Audiol 50, 133-138
-
(2011)
Int J Audiol
, vol.50
, pp. 133-138
-
-
Trotta, L.1
Iacona, E.2
Primignani, P.3
-
16
-
-
0034881345
-
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
Van Laer L, Coucke P, Mueller RF, et al. (2001). A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38, 515-518.
-
(2001)
J Med Genet
, vol.38
, pp. 515-518
-
-
Van Laer, L.1
Coucke, P.2
Mueller, R.F.3
-
17
-
-
84881052849
-
Heterozygous p. Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
-
Wonkam A, Noubiap JJ, Bosch J, Dandara C, and Toure GB. (2013). Heterozygous p. Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Med Genet 14:81.
-
(2013)
BMC Med Genet
, vol.14
, pp. 81
-
-
Wonkam, A.1
Noubiap, J.J.2
Bosch, J.3
Dandara, C.4
Toure, G.B.5
-
18
-
-
84871695357
-
Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa)
-
Wonkam A, Noubiap JJ, Djomou F, Fieggen K, Njock R, and Toure GB. (2013). Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa). Eur J Med Genet 56, 20-25.
-
(2013)
Eur J Med Genet
, vol.56
, pp. 20-25
-
-
Wonkam, A.1
Noubiap, J.J.2
Djomou, F.3
Fieggen, K.4
Njock, R.5
Toure, G.B.6
-
19
-
-
10744230689
-
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
-
Yan D, Park HJ, Ouyang XM, 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
|