-
1
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
-
(1997)
Hum. Mut.
, vol.10
, pp. 135-154
-
-
Estivill, X.1
-
3
-
-
0029794992
-
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
-
(1996)
Nat. Genet.
, vol.14
, pp. 185-187
-
-
Roa, B.B.1
-
4
-
-
8044228419
-
Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 285-289
-
-
Dunning, A.M.1
-
5
-
-
0029805706
-
The new genomics: Global views of biology
-
(1996)
Science
, vol.274
, pp. 536-539
-
-
Lander, E.S.1
-
6
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
-
8
-
-
0027194791
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
-
(1993)
Science
, vol.261
, pp. 921-923
-
-
Corder, E.H.1
-
9
-
-
0028314865
-
Mutation in blood coagulation factor V associated with resistance to activated protein C
-
(1994)
Nature
, vol.369
, pp. 64-67
-
-
Bertina, R.M.1
-
10
-
-
0033624575
-
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
(2000)
Nat. Genet.
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
-
20
-
-
0031671781
-
Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: A 1998 perspective
-
(1998)
Mut. Res.
, vol.411
, pp. 129-178
-
-
Sakanaranarayanan, K.1
-
21
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
(2001)
Nature
, vol.411
, pp. 199-204
-
-
Reich, D.E.1
-
22
-
-
0029933131
-
G6PD: Population genetics and clinical manifestations
-
(1996)
Blood Rev.
, vol.10
, pp. 45-52
-
-
Beutler, E.1
-
24
-
-
0025048275
-
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 698-705
-
-
Paw, B.H.1
-
25
-
-
0032492855
-
Salmonella typhi uses CFTR to enter intestinal epithelial cells
-
(1998)
Nature
, vol.393
, pp. 79-82
-
-
Pier, G.B.1
-
26
-
-
0028229223
-
The origin of the major cystic fibrosis mutation (delta F508) in European populations
-
(1994)
Nat. Genet.
, vol.7
, pp. 169-175
-
-
Morral, N.1
-
29
-
-
0025019555
-
Linkage strategies for genetically complex traits. I. Multilocus models
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 222-228
-
-
Risch, N.1
-
30
-
-
0032959286
-
Statistical properties of two tests that use multilocus data sets to detect population expansion
-
(1999)
Mol. Biol. Evol.
, vol.16
, pp. 453-466
-
-
Reich, D.E.1
-
33
-
-
0034113512
-
Mutation in the PAX6 gene in twenty patients with aniridia
-
(2000)
Hum. Mut.
, vol.15
, pp. 332-339
-
-
Chao, L.-Y.1
-
34
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
-
(1999)
Hum. Mut.
, vol.14
, pp. 412-422
-
-
Niida, Y.1
-
36
-
-
7344222069
-
Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia
-
(1998)
Hum. Mut.
, vol.12
, pp. 255-258
-
-
Mandelshtam, M.1
-
37
-
-
0029874084
-
Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom
-
(1996)
J. Lipid Res.
, vol.37
, pp. 368-381
-
-
Webb, J.C.1
-
38
-
-
0026580188
-
Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands
-
(1992)
Hum. Genet.
, vol.88
, pp. 258-266
-
-
Van Essen, A.J.1
-
39
-
-
0031719415
-
Molecular diagnostics of 15 Hemophilia A patients: Characterization of eight novel mutations in the Factor VIII gene, two of which result in exon skipping
-
(1998)
Hum. Mut.
, vol.12
, pp. 301-303
-
-
Tavassoli, K.1
-
42
-
-
0028852395
-
Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups
-
(1995)
Blood
, vol.85
, pp. 257-263
-
-
Xu, W.1
-
43
-
-
0026567018
-
The origin of glucose-6-phosphate-dehydrogenase (G6PD) polymorphisms in African-Americans
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 394-398
-
-
Kay, A.C.1
-
45
-
-
0031968178
-
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome
-
(1998)
Hum. Mut.
, vol.11
, pp. 295-305
-
-
Cormand, B.1
-
49
-
-
0032852326
-
A study of Wilson disease mutations in Britain
-
(1999)
Hum. Mut.
, vol.14
, pp. 304-311
-
-
Curtis, D.1
-
50
-
-
0032835347
-
Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect
-
(1999)
Hum. Mut.
, vol.14
, pp. 294-303
-
-
Loudianos, G.1
-
51
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
(1996)
Nat. Genet.
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
-
52
-
-
0030758880
-
The spectrum of beta-thalassemia mutations in the Lebanon
-
(1997)
Hum. Hered.
, vol.47
, pp. 241-249
-
-
Zahed, L.1
|