-
1
-
-
0027379866
-
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area
-
Bach G, Moskowitz SM, Thieu PT, Matynia A, Neufeld EF (1993): Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53:330-338.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 330-338
-
-
Bach, G.1
Moskowitz, S.M.2
Thieu, P.T.3
Matynia, A.4
Neufeld, E.F.5
-
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
-
-
0028841278
-
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci
-
Carmi R, Elbedour K, Stone EM, Sheffield VC (1995): Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet 59:199-203.
-
(1995)
Am J Med Genet
, vol.59
, pp. 199-203
-
-
Carmi, R.1
Elbedour, K.2
Stone, E.M.3
Sheffield, V.C.4
-
4
-
-
0027155952
-
Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants
-
Flint J, Harding RM, Clegg JB, Boyce AJ (1993): Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet 91:91-117.
-
(1993)
Hum Genet
, vol.91
, pp. 91-117
-
-
Flint, J.1
Harding, R.M.2
Clegg, J.B.3
Boyce, A.J.4
-
5
-
-
0028062781
-
Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model
-
Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266:107-109.
-
(1994)
Science
, vol.266
, pp. 107-109
-
-
Gabriel, S.E.1
Brigman, K.N.2
Koller, B.H.3
Boucher, R.C.4
Stutts, M.J.5
-
6
-
-
0028794623
-
High frequency of metachromatic leukodystrophy in a small geographic area
-
Heinisch U, Zlotogora J, Kafert S, Gieselmann V (1995): High frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56:51-57.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 51-57
-
-
Heinisch, U.1
Zlotogora, J.2
Kafert, S.3
Gieselmann, V.4
-
7
-
-
0028971221
-
Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, Tomé, Fardeau M, Jackson CE, Beckmann JS, Campbell KP (1995): Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
Bourg, N.4
Sunada, Y.5
Allamand, V.6
Meyer, J.7
Richard, I.8
Moomaw, C.9
Slaughter, C.10
Tomé11
Fardeau, M.12
Jackson, C.E.13
Beckmann, J.S.14
Campbell, K.P.15
-
8
-
-
0030818320
-
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene
-
Pratt VM, Jackson CE, Wallace DC, Gurley DS, Feit A, Feldman GL (1997): DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. Am J Hum Genet 61:231-233.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 231-233
-
-
Pratt, V.M.1
Jackson, C.E.2
Wallace, D.C.3
Gurley, D.S.4
Feit, A.5
Feldman, G.L.6
-
9
-
-
0032492855
-
Salmonella typhi uses CFTR to enter intestinal epithelial cells
-
Pier GB, Grout M, Zaidi T, Meluleni G, Mueschenborn SS, Banting G, Ratcliff R, Evans MJ, Colledge WH (1998): Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393:79-82.
-
(1998)
Nature
, vol.393
, pp. 79-82
-
-
Pier, G.B.1
Grout, M.2
Zaidi, T.3
Meluleni, G.4
Mueschenborn, S.S.5
Banting, G.6
Ratcliff, R.7
Evans, M.J.8
Colledge, W.H.9
-
10
-
-
16944362484
-
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
-
Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS (1997): Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 60:1128-1138.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1128-1138
-
-
Richard, I.1
Brenguier, L.2
Dincer, P.3
Roudaut, C.4
Bady, B.5
Burgunder, J.M.6
Chemaly, R.7
Garcia, C.A.8
Halaby, G.9
Jackson, C.E.10
Kurnit, D.M.11
Lefranc, G.12
Legum, C.13
Loiselet, J.14
Merlini, L.15
Nivelon-Chevallier, A.16
Ollagnon-Roman, E.17
Restagno, G.18
Topaloglu, H.19
Beckmann, J.S.20
more..
-
11
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse, Chiannikulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno MR, Zatz M, Tischfield JA, Fardau 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
Fougerousse4
Chiannikulchai, N.5
Bourg, N.6
Brenguier, L.7
Devaud, C.8
Pasturaud, P.9
Roudaut, C.10
Hillaire, D.11
Passos-Bueno, M.R.12
Zatz, M.13
Tischfield, J.A.14
Fardau, M.15
Jackson, C.E.16
Cohen, D.17
Beckmann, J.S.18
-
12
-
-
0023663697
-
What maintains the frequencies of human genetic diseases?
-
Rotter J, Diamond JM (1987): What maintains the frequencies of human genetic diseases? Nature 329:289-290.
-
(1987)
Nature
, vol.329
, pp. 289-290
-
-
Rotter, J.1
Diamond, J.M.2
-
13
-
-
0029016718
-
Protection against bronchial asthma by CFTR delta F508 mutation: A heterozygote advantage in cystic fibrosis
-
Schroeder SA, Gaughan DM, Swift M (1995): Protection against bronchial asthma by CFTR delta F508 mutation: A heterozygote advantage in cystic fibrosis. Nat Med 1:703-705.
-
(1995)
Nat Med
, vol.1
, pp. 703-705
-
-
Schroeder, S.A.1
Gaughan, D.M.2
Swift, M.3
-
14
-
-
17344368983
-
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
-
Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M (1998): Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 62:573-584.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 573-584
-
-
Stoilov, I.1
Akarsu, A.N.2
Alozie, I.3
Child, A.4
Barsoum-Homsy, M.5
Turacli, M.E.6
Or, M.7
Lewis, R.A.8
Ozdemir, N.9
Brice, G.10
Aktan, S.G.11
Chevrette, L.12
Coca-Prados, M.13
Sarfarazi, M.14
-
15
-
-
0031019266
-
Allelic disequilibrium and allele frequency distribution as a function of social and demographic history
-
Thompson EA, Neel JV (1997): Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. Am J Hum Genet 60:197-204.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 197-204
-
-
Thompson, E.A.1
Neel, J.V.2
-
17
-
-
0029858255
-
High incidence of malaria in alpha-thalassaemic children
-
Williams TN, Maitland K, Bennett S, Ganczakowski M, Peto TE, Newbold CI, Bowden DK, Weatherall DJ, Clegg JB (1996): High incidence of malaria in alpha-thalassaemic children. Nature 383:522-525.
-
(1996)
Nature
, vol.383
, pp. 522-525
-
-
Williams, T.N.1
Maitland, K.2
Bennett, S.3
Ganczakowski, M.4
Peto, T.E.5
Newbold, C.I.6
Bowden, D.K.7
Weatherall, D.J.8
Clegg, J.B.9
-
18
-
-
0028011885
-
High frequency of human genetic diseases: Founder effect with genetic drift or selection?
-
Zlotogora J (1994): High frequency of human genetic diseases: Founder effect with genetic drift or selection? Am J Med Genet 49:10-13.
-
(1994)
Am J Med Genet
, vol.49
, pp. 10-13
-
-
Zlotogora, J.1
-
19
-
-
0029655863
-
Multiple mutations in a specific gene in a small geographic area: A common phenomenon?
-
Zlotogora J, Gieselmann V, Bach G (1996): Multiple mutations in a specific gene in a small geographic area: A common phenomenon? Am J Hum Genet 58:241-243.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 241-243
-
-
Zlotogora, J.1
Gieselmann, V.2
Bach, G.3
|