-
1
-
-
12244265494
-
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss
-
Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID (2002) Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet 61:459-464.
-
(2002)
Clin Genet
, vol.61
, pp. 459-464
-
-
Bason, L.1
Dudley, T.2
Lewis, K.3
Shah, U.4
Potsic, W.5
Ferraris, A.6
Fortina, P.7
Rappaport, E.8
Krantz, I.D.9
-
2
-
-
17344362827
-
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
-
Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 62:325-333.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 325-333
-
-
Bejjani, B.A.1
Lewis, R.A.2
Tomey, K.F.3
Anderson, K.L.4
Dueker, D.K.5
Jabak, M.6
Astle, W.F.7
Otterud, B.8
Leppert, M.9
Lupski, J.R.10
-
3
-
-
0033365398
-
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites
-
Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet 65:1785-1790.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1785-1790
-
-
Bolk, S.1
Puffenberger, E.G.2
Hudson, J.3
Morton, D.H.4
Chakravarti, A.5
-
4
-
-
0042632613
-
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
-
Bonafe L, Giunta C, Gassner M, Steinmann B, Superti-Furga A (2003) A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Clin Genet 64:28-35.
-
(2003)
Clin Genet
, vol.64
, pp. 28-35
-
-
Bonafe, L.1
Giunta, C.2
Gassner, M.3
Steinmann, B.4
Superti-Furga, A.5
-
5
-
-
0030696315
-
Two connexin 26 mutations in an inbred kindred segregating non-syndromic deafness
-
Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two connexin 26 mutations in an inbred kindred segregating non-syndromic deafness. Hum Mol Genet 6:2163-2172.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
6
-
-
0028295887
-
Consanguineous mating in an Israeli-Arab community
-
Jaber L, Bailey-Wilson JE, Haj-Yehia M, Hernandez J, Shohat M (1994) Consanguineous mating in an Israeli-Arab community. Arch Pediatr Adolesc Med 148:412-415.
-
(1994)
Arch Pediatr Adolesc Med
, vol.148
, pp. 412-415
-
-
Jaber, L.1
Bailey-Wilson, J.E.2
Haj-Yehia, M.3
Hernandez, J.4
Shohat, M.5
-
7
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR (2002) The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 111:394-397.
-
(2002)
Hum Genet
, vol.111
, pp. 394-397
-
-
Liu, X.Z.1
Xia, X.J.2
Ke, X.M.3
Ouyang, X.M.4
Du, L.L.5
Liu, Y.H.6
Angeli, S.7
Telischi, F.F.8
Nance, W.E.9
Balkany, T.10
Xu, L.R.11
-
8
-
-
17844395222
-
The 35delG mutation in the connexin 26 Gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece
-
Lucotte G, Diterlen F (2005) The 35delG mutation in the connexin 26 Gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Testing 9:20-25.
-
(2005)
Genet Testing
, vol.9
, pp. 20-25
-
-
Lucotte, G.1
Diterlen, F.2
-
9
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passosbueno MR, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27-40.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
Devaud, C.8
Pasturaud, P.9
Roudaut, C.10
Hillaire, D.11
Passosbueno, M.R.12
Zatz, M.13
Tischfield, J.A.14
Fardeau, M.15
Jackson, C.E.16
Cohen, D.17
Beckmann, J.S.18
-
10
-
-
0036524027
-
Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
-
Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M (2002) Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110:284-289.
-
(2002)
Hum Genet
, vol.110
, pp. 284-289
-
-
Shahin, H.1
Walsh, T.2
Sobe, T.3
Lynch, E.4
King, M.C.5
Avraham, K.B.6
Kanaan, M.7
-
11
-
-
0008823228
-
Multiple mutations in a small geographic area: A common phenomenon?
-
Zlotogora J, Gieselmann V, Bach G (1996) Multiple mutations in a small geographic area: a common phenomenon? Am J hum Genet 64:83-88.
-
(1996)
Am J Hum Genet
, vol.64
, pp. 83-88
-
-
Zlotogora, J.1
Gieselmann, V.2
Bach, G.3
-
12
-
-
0343183239
-
Genetic disorders among Palestinian Arabs 3: Autosomal recessive disorders in a single village
-
Zlotogora, Shalev S, Habiballah H, Barges S (2000) Genetic disorders among Palestinian Arabs 3: Autosomal recessive disorders in a single village. Am J Med Genet 92:243-345.
-
(2000)
Am J Med Genet
, vol.92
, pp. 243-345
-
-
Zlotogora1
Shalev, S.2
Habiballah, H.3
Barges, S.4
-
13
-
-
0037815352
-
High incidence of profound deafness in an isolated community
-
Zlotogora J, Barges S (2003) High incidence of profound deafness in an isolated community. Genet Testing 7:143-146.
-
(2003)
Genet Testing
, vol.7
, pp. 143-146
-
-
Zlotogora, J.1
Barges, S.2
|