-
1
-
-
0027320743
-
Molecular basis of phenylketonuria in France
-
Abadie V, Lyonnet S, Melle D, Berthelon M, Caillaud C, et al. 1993. Molecular basis of phenylketonuria in France Dev. Brain Dysfunct. 6:120-26
-
(1993)
Dev. Brain Dysfunct.
, vol.6
, pp. 120-126
-
-
Abadie, V.1
Lyonnet, S.2
Melle, D.3
Berthelon, M.4
Caillaud, C.5
-
2
-
-
0026699908
-
Screening for five mutations detects 97% of CF chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
-
Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, et al. 1992. Screening for five mutations detects 97% of CF chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet. 51:951-56
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 951-956
-
-
Abeliovich, D.1
Lavon, I.P.2
Lerer, I.3
Cohen, T.4
Springer, C.5
-
3
-
-
0025304675
-
Nucleotide sequence of cDNA encoding human fumarylacetoacetase
-
Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman J-W, et al. 1990. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. Nucleic Acids Res. 18:1887
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 1887
-
-
Agsteribbe, E.1
Van Faassen, H.2
Hartog, M.V.3
Reversma, T.4
Taanman, J.-W.5
-
4
-
-
0017636756
-
Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population
-
Andermann E, Scriver CR, Wolfe LS, Dansky L, Andermann F. 1977. Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog. Clin. Biol. Res. 18:161-88
-
(1977)
Prog. Clin. Biol. Res.
, vol.18
, pp. 161-188
-
-
Andermann, E.1
Scriver, C.R.2
Wolfe, L.S.3
Dansky, L.4
Andermann, F.5
-
5
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Antonarakis SE, Nomencl. Work. Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum. Mutat. 11:1-3
-
(1998)
Hum. Mutat.
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
6
-
-
0034425924
-
Genetic homogeneity of Icelanders: Fact or fiction?
-
Arnason E, Sigurgislason H, Benedikz E. 2000. Genetic homogeneity of Icelanders: Fact or fiction? Nat. Genet. 25:373-74
-
(2000)
Nat. Genet.
, vol.25
, pp. 373-374
-
-
Arnason, E.1
Sigurgislason, H.2
Benedikz, E.3
-
7
-
-
0014887807
-
Vitamin D dependency: An inherited postnatal syndrome with secondary hyperparathyroidism
-
Arnaud C, Maijer R, Reade T, Scriver CR, Whelan DT. 1970. Vitamin D dependency: An inherited postnatal syndrome with secondary hyperparathyroidism. Pediatrics 46:871-80
-
(1970)
Pediatrics
, vol.46
, pp. 871-880
-
-
Arnaud, C.1
Maijer, R.2
Reade, T.3
Scriver, C.R.4
Whelan, D.T.5
-
8
-
-
0032410933
-
Social transmission of reproductive behaviour increases frequency of inherited disorders in a young expanding population
-
Austerlitz F, Heyer E. 1998. Social transmission of reproductive behaviour increases frequency of inherited disorders in a young expanding population. Proc. Natl. Acad. Sci. USA 95:15140-44
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 15140-15144
-
-
Austerlitz, F.1
Heyer, E.2
-
9
-
-
0032902263
-
Impact of demographic distribution and population growth rate on haplotypic diversity linked to a disease gene and their consequences for the estimation of recombination rate: Example of a French Canadian population
-
Austerlitz F, Heyer E. 1999. Impact of demographic distribution and population growth rate on haplotypic diversity linked to a disease gene and their consequences for the estimation of recombination rate: Example of a French Canadian population. Genet. Epidemiol. 16:2-14
-
(1999)
Genet. Epidemiol.
, vol.16
, pp. 2-14
-
-
Austerlitz, F.1
Heyer, E.2
-
10
-
-
0026518064
-
Prevalence, geographical distribution and genealogical investigations of mutations 188 of lipoprotein lipase gene in the French Canadian population of Quebec
-
Bergeron J, Normand T, Bharucha A, Ven Murthy MR, Julien P, et al. 1992. Prevalence, geographical distribution and genealogical investigations of mutations 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Clin. Genet. 41:206-10
-
(1992)
Clin. Genet.
, vol.41
, pp. 206-210
-
-
Bergeron, J.1
Normand, T.2
Bharucha, A.3
Ven Murthy, M.R.4
Julien, P.5
-
11
-
-
0026518938
-
Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians
-
Betard C, Kessling AM, Roy M, Chamberland A, Lussier-Cancan S, Davignon J. 1992. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum. Genet. 88:529-36
-
(1992)
Hum. Genet.
, vol.88
, pp. 529-536
-
-
Betard, C.1
Kessling, A.M.2
Roy, M.3
Chamberland, A.4
Lussier-Cancan, S.5
Davignon, J.6
-
12
-
-
0033009388
-
Homozygotes for oculopharnygeal muscular dystrophy have a severe form of the disease
-
Blumen SC, Brais B, Korczyn AD, Medinsky S, Chapman J, et al. 1999. Homozygotes for oculopharnygeal muscular dystrophy have a severe form of the disease. Ann. Neurol. 46:115-18
-
(1999)
Ann. Neurol.
, vol.46
, pp. 115-118
-
-
Blumen, S.C.1
Brais, B.2
Korczyn, A.D.3
Medinsky, S.4
Chapman, J.5
-
14
-
-
0033920756
-
A look at linkage disequilibrium
-
Boehnke M. 2000. A look at linkage disequilibrium. Nat. Genet. 25:246-47
-
(2000)
Nat. Genet.
, vol.25
, pp. 246-247
-
-
Boehnke, M.1
-
18
-
-
0002762274
-
Computer in human sciences: From family reconstitution to population reconstruction
-
E Nissan, KM Schmidt. Oxford: Intellect, 201 pp
-
Bouchard G, Roy R, Casgrain B, Hubert M. 1995. Computer in human sciences: From family reconstitution to population reconstruction. In From Information to Knowledge. Conceptual and Content Analysis by Computer, ed. E Nissan, KM Schmidt. Oxford: Intellect. 201 pp.
-
(1995)
From Information to Knowledge. Conceptual and Content Analysis by Computer, ed.
-
-
Bouchard, G.1
Roy, R.2
Casgrain, B.3
Hubert, M.4
-
20
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais B, Bouchard J-P, Xie YG, Rochefort DL, Tomé FM, et al. 1998. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet. 18:164-67
-
(1998)
Nat. Genet.
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.-P.2
Xie, Y.G.3
Rochefort, D.L.4
Tomé, F.M.5
-
21
-
-
0033060450
-
Oculopharyngeal muscular dystrophy
-
Brais B, Rouleau GA, Bouchard J-P, Fardeau M, Tomé FM. 1999. Oculopharyngeal muscular dystrophy. Semin. Neurol. 19:59-66
-
(1999)
Semin. Neurol.
, vol.19
, pp. 59-66
-
-
Brais, B.1
Rouleau, G.A.2
Bouchard, J.-P.3
Fardeau, M.4
Tomé, F.M.5
-
24
-
-
0011134119
-
The PAH locus and population genetic variation: The Quebec example
-
Abstr.
-
Byck S, Morgan K, Blanc L, Scriver CR. 1996. The PAH locus and population genetic variation: The Quebec example. Am. J. Hum. Genet. 59: A.33(Abstr.)
-
(1996)
Am. J. Hum. Genet.
, vol.59
-
-
Byck, S.1
Morgan, K.2
Blanc, L.3
Scriver, C.R.4
-
25
-
-
0028074293
-
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
-
Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR. 1994. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum. Mol. Genet. 3:1675-77
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1675-1677
-
-
Byck, S.1
Morgan, K.2
Tyfield, L.3
Dworniczak, B.4
Scriver, C.R.5
-
26
-
-
0031933615
-
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: The Quebec experience
-
Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, et al. 1998. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: The Quebec experience. Eur. J. Hum. Genet. 6:61-70
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 61-70
-
-
Carter, K.C.1
Byck, S.2
Waters, P.J.3
Richards, B.4
Nowacki, P.M.5
-
27
-
-
0011078072
-
-
See Ref
-
Casgrain B, Hubert M, Bouchard G, Roy R. 1991. Structure de Gestion et D'exploitation du Fichier-Reseau BALSAC. See Ref. 16, pp. 47-71
-
(1991)
Structure de Gestion et D'exploitation du Fichier-Reseau BALSAC
, vol.16
, pp. 47-71
-
-
Casgrain, B.1
Hubert, M.2
Bouchard, G.3
Roy, R.4
-
29
-
-
0027831931
-
Human genomic diversity in Europe: A summary of recent research and prospects for the future
-
Cavalli-Sforza LL, Piazza A. 1993. Human genomic diversity in Europe: A summary of recent research and prospects for the future. Eur. J. Hum. Genet. 1:3-18
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 3-18
-
-
Cavalli-Sforza, L.L.1
Piazza, A.2
-
30
-
-
0035226817
-
Linkage disequilibrium mapping: The role of population history, size and structure
-
Chapman NH, Thompson EA. 2001. Linkage disequilibrium mapping: The role of population history, size and structure. Adv. Genet. 42:413-37
-
(2001)
Adv. Genet.
, vol.42
, pp. 413-437
-
-
Chapman, N.H.1
Thompson, E.A.2
-
31
-
-
0021403848
-
Essai sur l'évolution démographique du québec de 1534 à 2034
-
Charbonneau H. 1984. Essai sur l'évolution démographique du Québec de 1534 à 2034. Cah. Québ. Démogr. 13:5-21
-
(1984)
Cah. Québ. Démogr.
, vol.13
, pp. 5-21
-
-
Charbonneau, H.1
-
33
-
-
0031744522
-
Proof of "disease-causing" mutation
-
Cotton RGH, Scriver CR. 1998. Proof of "disease-causing" mutation. Hum. Mutat. 12:1-3
-
(1998)
Hum. Mutat.
, vol.12
, pp. 1-3
-
-
Cotton, R.G.H.1
Scriver, C.R.2
-
34
-
-
0033056728
-
Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations
-
Couture P, Morrissette J, Gaudet D, Vohl M-C, Gagné C, et al. 1999. Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations. Atherosclerosis 143:145-51
-
(1999)
Atherosclerosis
, vol.143
, pp. 145-151
-
-
Couture, P.1
Morrissette, J.2
Gaudet, D.3
Vohl, M.-C.4
Gagné, C.5
-
36
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
Cystic Fibrosis Genet. Anal. Consort. 1994. Population variation of common cystic fibrosis mutations. Hum. Mutat. 4:167-77
-
(1994)
Hum. Mutat.
, vol.4
, pp. 167-177
-
-
-
37
-
-
0026009924
-
Genetic epidemiology of Cystic Fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada)
-
Daigneault J, Aubin G, Simard F, De Braekeeler M. 1991. Genetic epidemiology of Cystic Fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). Clin. Genet. 40:298-303
-
(1991)
Clin. Genet.
, vol.40
, pp. 298-303
-
-
Daigneault, J.1
Aubin, G.2
Simard, F.3
De Braekeeler, M.4
-
38
-
-
0025756913
-
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)
-
De Braekeleer M. 1991. Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum. Hered. 41:141-46
-
(1991)
Hum. Hered.
, vol.41
, pp. 141-146
-
-
De Braekeleer, M.1
-
39
-
-
0029265722
-
Geographic distribution of 18 autosomal recessive disorders in the French Candian population of Saguenay-Lac-Saint-Jean, Quebec
-
De Braekeeler M. 1995. Geographic distribution of 18 autosomal recessive disorders in the French Candian population of Saguenay-Lac-Saint-Jean, Quebec. Ann. Hum. Biol. 22:111-22
-
(1995)
Ann. Hum. Biol.
, vol.22
, pp. 111-122
-
-
De Braekeeler, M.1
-
40
-
-
0030227590
-
Genealogy and geographic distribution of CFTR mutations in Saguenay-Lac-Saint-Jean (Quebec, Canada)
-
De Braekeeler M, Daigneault J, Allard C, Simard F, Aubin G. 1996. Genealogy and geographic distribution of CFTR mutations in Saguenay-Lac-Saint-Jean (Quebec, Canada). Ann. Hum. Biol. 23:345-52
-
(1996)
Ann. Hum. Biol.
, vol.23
, pp. 345-352
-
-
De Braekeeler, M.1
Daigneault, J.2
Allard, C.3
Simard, F.4
Aubin, G.5
-
41
-
-
0028409898
-
Hereditary disorders in the French Canadian population of Quebec. I. In search of founders
-
De Braekeeler M, Dao TN. 1994. Hereditary disorders in the French Canadian population of Quebec. I. In search of founders. Hum. Biol. 66:205-23
-
(1994)
Hum. Biol.
, vol.66
, pp. 205-223
-
-
De Braekeeler, M.1
Dao, T.N.2
-
42
-
-
0028406290
-
Hereditary disorders in the French Canadian population of Quebec. II. Contribution of Perche
-
De Braekeeler M, Dao TN. 1994. Hereditary disorders in the French Canadian population of Quebec. II. Contribution of Perche. Hum. Biol. 66:225-49
-
(1994)
Hum. Biol.
, vol.66
, pp. 225-249
-
-
De Braekeeler, M.1
Dao, T.N.2
-
43
-
-
0025819026
-
Founder effect in familial hyperchylomicronemia among French Canadians of Quebec
-
De Braekeeler M, Dionne C, Gagné C, Julien P, Brun D, et al. 1991. Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. Hum. Hered. 41:168-73
-
(1991)
Hum. Hered.
, vol.41
, pp. 168-173
-
-
De Braekeeler, M.1
Dionne, C.2
Gagné, C.3
Julien, P.4
Brun, D.5
-
44
-
-
0030071474
-
Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): A study of inbreeding
-
De Braekeeler M, Gauthier S. 1996. Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): A study of inbreeding. Ann. Hum. Genet. 60:51-56
-
(1996)
Ann. Hum. Genet.
, vol.60
, pp. 51-56
-
-
De Braekeeler, M.1
Gauthier, S.2
-
45
-
-
0030159070
-
Autosomal recessive disorders in Saguenay-Lac-St-Jean, Quebec: Study of kinship
-
De Braekeeler M, Gauthier S. 1996. Autosomal recessive disorders in Saguenay-Lac-St-Jean, Quebec: Study of kinship. Hum. Biol. 68:371-81
-
(1996)
Hum. Biol.
, vol.68
, pp. 371-381
-
-
De Braekeeler, M.1
Gauthier, S.2
-
46
-
-
0027417491
-
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec
-
De Braekeeler M, Giasson F, Mathiew J, Roy M, Bouchard J-P, Morgan K. 1993. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet. Epidemiol. 10:17-25
-
(1993)
Genet. Epidemiol.
, vol.10
, pp. 17-25
-
-
De Braekeeler, M.1
Giasson, F.2
Mathiew, J.3
Roy, M.4
Bouchard, J.-P.5
Morgan, K.6
-
47
-
-
0026566449
-
The French Canadian Tay-Sachs disease deletion mutation: Identification of probable founders
-
De Braekeeler M, Hechtman P, Andermann E, Kaplan F. 1992. The French Canadian Tay-Sachs disease deletion mutation: Identification of probable founders. Hum. Genet. 89:83-87
-
(1992)
Hum. Genet.
, vol.89
, pp. 83-87
-
-
De Braekeeler, M.1
Hechtman, P.2
Andermann, E.3
Kaplan, F.4
-
48
-
-
0028128536
-
Consanguinity and kinship in Down Syndrome in Saguenay-Lac-Saint-Jean (Quebec)
-
De Braekeeler M, Landry T, Cholette A. 1994. Consanguinity and kinship in Down Syndrome in Saguenay-Lac-Saint-Jean (Quebec). Ann. Genet. 37:86-88
-
(1994)
Ann. Genet.
, vol.37
, pp. 86-88
-
-
De Braekeeler, M.1
Landry, T.2
Cholette, A.3
-
49
-
-
0026321320
-
Population genetics of vitamin D-dependent rickets in northeastern Quebec
-
De Braekeeler M, Larochelle J. 1991. Population genetics of vitamin D-dependent rickets in northeastern Quebec. Ann. Hum. Genet. 55:283-90
-
(1991)
Ann. Hum. Genet.
, vol.55
, pp. 283-290
-
-
De Braekeeler, M.1
Larochelle, J.2
-
50
-
-
0031950633
-
Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay-Lac-Saint-Jean (Quebec, Canada)
-
De Braekeeler M, Mari C, Verlingue C, Allard C, Leblanc JP, et al. 1998. Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay-Lac-Saint-Jean (Quebec, Canada). Clin. Genet. 53:44-46
-
(1998)
Clin. Genet.
, vol.53
, pp. 44-46
-
-
De Braekeeler, M.1
Mari, C.2
Verlingue, C.3
Allard, C.4
Leblanc, J.P.5
-
51
-
-
0026330977
-
In-breeding in Saguenay-Lac-St-Jean (Quebec, Canada): A study of Catholic church dispensations 1842-1971
-
De Braekeeler M, Ross M. 1991. In-breeding in Saguenay-Lac-St-Jean (Quebec, Canada): A study of Catholic church dispensations 1842-1971. Hum. Hered. 41:379-84
-
(1991)
Hum. Hered.
, vol.41
, pp. 379-384
-
-
De Braekeeler, M.1
Ross, M.2
-
52
-
-
0027968311
-
Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus
-
Degioanni A, Darlu P. 1994. Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus. Eur. J. Hum. Genet. 2:166-76
-
(1994)
Eur. J. Hum. Genet.
, vol.2
, pp. 166-176
-
-
Degioanni, A.1
Darlu, P.2
-
53
-
-
0027978393
-
Hereditary Tyrosinemia Type I: Strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis
-
Demers SI, Phaneuf D, Tanguay RM. 1914. Hereditary Tyrosinemia Type I: Strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. Am. J. Hum. Genet. 55:327-33
-
(1914)
Am. J. Hum. Genet.
, vol.55
, pp. 327-333
-
-
Demers, S.I.1
Phaneuf, D.2
Tanguay, R.M.3
-
54
-
-
0018175825
-
La thalassémie chez les québécois francophones
-
Desjardins L, Rousseau C, Duplain J-M, Vallet J-P, Auger P. 1978. La thalassémie chez les québécois francophones. Can. Med. Assoc. J. 119:709-13
-
(1978)
Can. Med. Assoc. J.
, vol.119
, pp. 709-713
-
-
Desjardins, L.1
Rousseau, C.2
Duplain, J.-M.3
Vallet, J.-P.4
Auger, P.5
-
55
-
-
0022550463
-
Molecular structure and polymorphic map of human phenylalanine hydroxylase gene
-
DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SLC. 1986. Molecular structure and polymorphic map of human phenylalanine hydroxylase gene. Biochemistry 25:743-49
-
(1986)
Biochemistry
, vol.25
, pp. 743-749
-
-
DiLella, A.G.1
Kwok, S.C.M.2
Ledley, F.D.3
Marvit, J.4
Woo, S.L.C.5
-
56
-
-
0026761495
-
Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Quebec, Canada)
-
Dionne C, Gagné C, Julien P, Murthy MR, Lambert M, et al. 1992. Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Quebec, Canada). Ann. Genet. 35:89-92
-
(1992)
Ann. Genet.
, vol.35
, pp. 89-92
-
-
Dionne, C.1
Gagné, C.2
Julien, P.3
Murthy, M.R.4
Lambert, M.5
-
57
-
-
0011133062
-
On genetic aspects of human evolution
-
ed. JF Crow, JV Neel. Baltimore, MA: Johns Hopkins Press
-
Dobzhansky T. 1967. On genetic aspects of human evolution. In Proc. 3rd Int. Congr. Hum. Genet., ed. JF Crow, JV Neel, pp. 361-65. Baltimore, MA: Johns Hopkins Press
-
(1967)
Proc. 3rd Int. Congr. Hum. Genet.
, pp. 361-365
-
-
Dobzhansky, T.1
-
58
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum. Mutat. 15:7-12
-
(2000)
Hum. Mutat.
, vol.15
, pp. 7-12
-
-
Dunnen, J.T.1
Antonarakis, S.E.2
-
59
-
-
0028885340
-
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans
-
Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, et al. 1995. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am. J. Hum. Genet. 56:278-86
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 278-286
-
-
Eisensmith, R.C.1
Goltsov, A.A.2
O'Neill, C.3
Tyfield, L.A.4
Schwartz, E.I.5
-
60
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert JC, Bérubé D, Mercier J, Doré C, Lepage P, et al. 2000. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat. Genet. 24:120-25
-
(2000)
Nat. Genet.
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Bérubé, D.2
Mercier, J.3
Doré, C.4
Lepage, P.5
-
61
-
-
0033387852
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosome region 13q11
-
Engert JC, Doré C, Mercier J, Ge B, Bétard C, et al. 1999. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosome region 13q11. Genomics 62:156-64
-
(1999)
Genomics
, vol.62
, pp. 156-164
-
-
Engert, J.C.1
Doré, C.2
Mercier, J.3
Ge, B.4
Bétard, C.5
-
62
-
-
0024087048
-
"We'll take care of it for you." Health care in the Canadian community
-
Evans RG. 1988. "We'll take care of it for you." Health care in the Canadian community. Daedalus 117:155-89
-
(1988)
Daedalus
, vol.117
, pp. 155-189
-
-
Evans, R.G.1
-
64
-
-
0027320080
-
Linkage disequilibrium in the human phenylalanine hydroxylase
-
Feingold J, Guilloud-Bataille M, Feingold N, Rey F, Berthelon M, Lyonnet S. 1993. Linkage disequilibrium in the human phenylalanine hydroxylase. Dev. Brain. Dysfunct. 6:26-31
-
(1993)
Dev. Brain. Dysfunct.
, vol.6
, pp. 26-31
-
-
Feingold, J.1
Guilloud-Bataille, M.2
Feingold, N.3
Rey, F.4
Berthelon, M.5
Lyonnet, S.6
-
65
-
-
0026761668
-
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazi Jews
-
Fernandes MJG, Kaplan F, Clow CL, Hechtman P, Scriver CR. 1992. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazi Jews. Genet. Epidemiol. 9:169-75
-
(1992)
Genet. Epidemiol.
, vol.9
, pp. 169-175
-
-
Fernandes, M.J.G.1
Kaplan, F.2
Clow, C.L.3
Hechtman, P.4
Scriver, C.R.5
-
67
-
-
0015929252
-
Pathogenesis of hereditary vitamin D-dependent rickets: An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1α,25-dihydroxyvitamin D
-
Fraser D, Kooh SW, Kind HP, Holick MF, Tanaka Y, Deluca HF. 1973. Pathogenesis of hereditary vitamin D-dependent rickets: An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1α,25-dihydroxyvitamin D. N. Engl. J. Med. 289:817-22
-
(1973)
N. Engl. J. Med.
, vol.289
, pp. 817-822
-
-
Fraser, D.1
Kooh, S.W.2
Kind, H.P.3
Holick, M.F.4
Tanaka, Y.5
Deluca, H.F.6
-
68
-
-
0026515711
-
Presence of the French Canadian deletion in a French patient with familial hypercholesterolemia
-
Fumeron F, Grandchamp B, Fricker J, Krempf M, Wolf L-M, et al. 1992. Presence of the French Canadian deletion in a French patient with familial hypercholesterolemia. N. Engl. J. Med. 326:69
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 69
-
-
Fumeron, F.1
Grandchamp, B.2
Fricker, J.3
Krempf, M.4
Wolf, L.-M.5
-
69
-
-
0024533690
-
Primary lipoprotein lipase activity deficiency: Clinical investigation of a French Canadian population
-
Gagné C, Brun L-D, Julien P, Moorjani S, Lupien PJ. 1989. Primary lipoprotein lipase activity deficiency: Clinical investigation of a French Canadian population. Can. Med. Assoc. J. 140:405-11
-
(1989)
Can. Med. Assoc. J.
, vol.140
, pp. 405-411
-
-
Gagné, C.1
Brun, L.-D.2
Julien, P.3
Moorjani, S.4
Lupien, P.J.5
-
70
-
-
0029364276
-
L'hypercholestérolémie familiale dans l'est du Québec: Une problème de santê publique? L'expérience de la clinique des maladies lipidique du Chicoutimi
-
Gaudet D, Tremblay G, Perron P, Moorjani S, Ouadahi Y, Moorjani S. 1995. L'hypercholestérolémie familiale dans l'est du Québec: Une problème de santê publique? L'expérience de la clinique des maladies lipidique du Chicoutimi. Union Méd. Can. 124:54-60
-
(1995)
Union Méd. Can
, vol.124
, pp. 54-60
-
-
Gaudet, D.1
Tremblay, G.2
Perron, P.3
Moorjani, S.4
Ouadahi, Y.5
Moorjani, S.6
-
71
-
-
0026762806
-
Familial lipoprotein disorders in patients with premature coronary artery disease
-
Genest JJ Jr, Martin-Munley SS, McNamara JR, Ordovas JM, Jenner J, et al. 1992. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 85:2025-33
-
(1992)
Circulation
, vol.85
, pp. 2025-2033
-
-
Genest J.J., Jr.1
Martin-Munley, S.S.2
McNamara, J.R.3
Ordovas, J.M.4
Jenner, J.5
-
72
-
-
85040957021
-
-
Toronto: Univ. Toronto Press
-
Gentilcore RL, Measner D, Walder RH, Matthews GJ, Moldofsky B, eds. 1993. Historical Atlas of Canada. Vol. II: The Land Transformed 1800-1891. Toronto: Univ. Toronto Press
-
(1993)
Historical Atlas of Canada. Vol. II: The Land Transformed 1800-1891
, vol.2
-
-
Gentilcore, R.L.1
Measner, D.2
Walder, R.H.3
Matthews, G.J.4
Moldofsky, B.5
-
73
-
-
0029024781
-
Pseudo-vitamin D deficiency: Absence of 25-hydroxyvitamin D 1α-hydroxylase activity in human placenta decidual cells
-
Glorieux FH, Arabian A, Delvin EE. 1995. Pseudo-vitamin D deficiency: Absence of 25-hydroxyvitamin D 1α-hydroxylase activity in human placenta decidual cells. J. Clin. Endocrinol. Metab. 80:2255-58
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 2255-2258
-
-
Glorieux, F.H.1
Arabian, A.2
Delvin, E.E.3
-
74
-
-
0015839023
-
Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction
-
Goldstein JL, Hazzard WR, Schrott WR, Bierman EL, Motulsky AG, et al. 1973. Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction. J. Clin. Invest. 52:1533-43
-
(1973)
J. Clin. Invest.
, vol.52
, pp. 1533-1543
-
-
Goldstein, J.L.1
Hazzard, W.R.2
Schrott, W.R.3
Bierman, E.L.4
Motulsky, A.G.5
-
76
-
-
0026674882
-
Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene
-
Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC. 1992. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 51:627-36
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 627-636
-
-
Goltsov, A.A.1
Eisensmith, R.C.2
Konecki, D.S.3
Lichter-Konecki, U.4
Woo, S.L.C.5
-
77
-
-
0027287605
-
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria
-
Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SLC. 1993. A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum. Mol. Genet. 2:577-81
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 577-581
-
-
Goltsov, A.A.1
Eisensmith, R.C.2
Naughton, E.R.3
Jin, L.4
Chakraborty, R.5
Woo, S.L.C.6
-
79
-
-
0027934892
-
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I
-
Grompe M, St-Louis M, Demers SI, Al-Dhalimy M, Leclerc B, Tanguay RM. 1994. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N. Engl. J. Med. 331:353-57
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 353-357
-
-
Grompe, M.1
St-Louis, M.2
Demers, S.I.3
Al-Dhalimy, M.4
Leclerc, B.5
Tanguay, R.M.6
-
80
-
-
0029895020
-
Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Colloborative Study
-
Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, et al. 1996. Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Colloborative Study. Am. J. Hum. Genet. 59:84-94
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 84-94
-
-
Guldberg, P.1
Levy, H.L.2
Hanley, W.B.3
Koch, R.4
Matalon, R.5
-
81
-
-
0032231461
-
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
-
Guldberg P, Rey F, Zschocke J, Romano C, Francois B, et al. 1998. A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am. J. Hum. Genet. 63:71-79
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
Romano, C.4
Francois, B.5
-
82
-
-
84935413314
-
"So great a heritage as ours." Immigration and the survival of the Canadian polity
-
Harney RF. 1988. "So great a heritage as ours." Immigration and the survival of the Canadian polity. Daedalus 117:51-97
-
(1988)
Daedalus
, vol.117
, pp. 51-97
-
-
Harney, R.F.1
-
84
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A. 1992. Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland. Nat. Genet. 2:204-11
-
(1992)
Nat. Genet.
, vol.2
, pp. 204-211
-
-
Hastbacka, J.1
De la Chapelle, A.2
Kaitila, I.3
Sistonen, P.4
Weaver, A.5
-
85
-
-
0011141585
-
Molecular geography of inherited lipoprotein metabolism: Lipoprotein lipase deficiency and familial hypercholesterolemia
-
ed. AJ Lusis, JI Rotter, RS Sparkes. Basel: Karger
-
Hayden MR, De Braekeeler M, Henderson HE, Castelein J. 1992. Molecular geography of inherited lipoprotein metabolism: Lipoprotein lipase deficiency and familial hypercholesterolemia. In Molecular Genetics of Coronary Artery Disease. Candidate Genes and Processes in Atherosclerosis, ed. AJ Lusis, JI Rotter, RS Sparkes, 14:350-62. Basel: Karger
-
(1992)
Molecular Genetics of Coronary Artery Disease. Candidate Genes and Processes in Atherosclerosis
, vol.14
, pp. 350-362
-
-
Hayden, M.R.1
De Braekeeler, M.2
Henderson, H.E.3
Castelein, J.4
-
86
-
-
0027096309
-
The intron 7 donor splice site transition: A second Tay-Sachs disease mutation in French Canada
-
Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melanáon S, et al. 1992. The intron 7 donor splice site transition: A second Tay-Sachs disease mutation in French Canada. Hum. Genet. 90:402-6
-
(1992)
Hum. Genet.
, vol.90
, pp. 402-406
-
-
Hechtman, P.1
Boulay, B.2
De Braekeleer, M.3
Andermann, E.4
Melanáon, S.5
-
87
-
-
0025026353
-
More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians
-
Hechtman P, Kaplan F, Bayleran J, Boulay B, Andermann E, et al. 1990. More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Am. J. Hum. Genet. 47:815-22
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 815-822
-
-
Hechtman, P.1
Kaplan, F.2
Bayleran, J.3
Boulay, B.4
Andermann, E.5
-
88
-
-
0029151236
-
Genetic consequences of differential demographic behaviour in the Saguenay region
-
Heyer E. 1995. Genetic consequences of differential demographic behaviour in the Saguenay region, Quebec. Am. J. Phys. Anthropol. 98:1-11
-
(1995)
Quebec. Am. J. Phys. Anthropol.
, vol.98
, pp. 1-11
-
-
Heyer, E.1
-
89
-
-
0033083369
-
One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada)
-
Heyer E. 1999. One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada). Hum. Biol. 71:99-109
-
(1999)
Hum. Biol.
, vol.71
, pp. 99-109
-
-
Heyer, E.1
-
90
-
-
0028940272
-
Variability of the genetic contribution of Quebec population founders associated to some deleterious genes
-
Heyer E, Tremblay M. 1995. Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. Am. J. Hum. Genet. 56:970-78
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 970-978
-
-
Heyer, E.1
Tremblay, M.2
-
91
-
-
0031128160
-
Seventeenth century European origins of hereditary diseases in the Saguenay population (Quebec, Canada)
-
Heyer E, Tremblay M, Desjardins B. 1997. Seventeenth century European origins of hereditary diseases in the Saguenay population (Quebec, Canada). Hum. Biol. 69:209-25
-
(1997)
Hum. Biol.
, vol.69
, pp. 209-225
-
-
Heyer, E.1
Tremblay, M.2
Desjardins, B.3
-
92
-
-
0023239477
-
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia
-
Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. 1987. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N. Engl. J. Med. 317:734-37
-
(1987)
N. Engl. J. Med.
, vol.317
, pp. 734-737
-
-
Hobbs, H.H.1
Brown, M.S.2
Russell, D.W.3
Davignon, J.4
Goldstein, J.L.5
-
93
-
-
0024842516
-
Novel PKU mutation on haplotype 2 in French-Canadians
-
John SWM, Rozen R, Laframboise R, Laberge C, Scriver CR. 1989. Novel PKU mutation on haplotype 2 in French-Canadians. Am. J. Hum. Genet. 45:905-9
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 905-909
-
-
John, S.W.M.1
Rozen, R.2
Laframboise, R.3
Laberge, C.4
Scriver, C.R.5
-
94
-
-
0025306686
-
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: Evidence in French-Canadians and a catalog of mutations
-
John SWM, Rozen R, Scriver CR, Laframboise R, Laberge C. 1990. Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: Evidence in French-Canadians and a catalog of mutations. Am. J. Hum. Genet. 46:970-74
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 970-974
-
-
John, S.W.M.1
Rozen, R.2
Scriver, C.R.3
Laframboise, R.4
Laberge, C.5
-
95
-
-
0011142798
-
Familial hypercholesterolemia in French Canadians: Geographic distribution and centre of origin of an LDL deletion mutation
-
Abstr.
-
Jomphe M, Bouchard G, Davignon J, De Braekeeler M, Gradie M, et al. 1988. Familial hypercholesterolemia in French Canadians: Geographic distribution and centre of origin of an LDL deletion mutation. Am. J. Hum. Genet. 43:A216 (Abstr.)
-
(1988)
Am. J. Hum. Genet.
, vol.43
-
-
Jomphe, M.1
Bouchard, G.2
Davignon, J.3
De Braekeeler, M.4
Gradie, M.5
-
96
-
-
0028894185
-
Linkage disequilibrium as a gene-mapping tool
-
Jorde LB. 1995. Linkage disequilibrium as a gene-mapping tool. Am. J. Hum. Genet. 56:11-14
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 11-14
-
-
Jorde, L.B.1
-
97
-
-
0026017844
-
Quantification of β-thalassemia genes in Quebec immigrants of Mediterranean, Southeast Asian, and Asian Indian origin
-
Kaplan F, Kokotsis G, Capua A, Scriver CR. 1991. Quantification of β-thalassemia genes in Quebec immigrants of Mediterranean, Southeast Asian, and Asian Indian origin. Clin. Invest. Med. 14:325-30
-
(1991)
Clin. Invest. Med.
, vol.14
, pp. 325-330
-
-
Kaplan, F.1
Kokotsis, G.2
Capua, A.3
Scriver, C.R.4
-
98
-
-
0025105203
-
β-thalassemia genes in French-Canadians: Haplotype and mutation analysis of Portneuf chromosomes
-
Kaplan F, Kokotsis G, De Braekeeler M, Morgan K, Scriver CR. 1990. β-thalassemia genes in French-Canadians: Haplotype and mutation analysis of Portneuf chromosomes. Am. J. Hum. Genet. 46:126-32
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 126-132
-
-
Kaplan, F.1
Kokotsis, G.2
De Braekeeler, M.3
Morgan, K.4
Scriver, C.R.5
-
100
-
-
0028167764
-
Response to HMG CoA reductase inhibitors in heterozygous familial hypercholesterolemia due to the 10-kb deletion ("French Canadian mutation") of the LDL receptor gene
-
Karayan L, Qiu S, Betard C, Dufour R, Roederer G, et al. 1994. Response to HMG CoA reductase inhibitors in heterozygous familial hypercholesterolemia due to the 10-kb deletion ("French Canadian mutation") of the LDL receptor gene. Arteroscler. Thromb. 14:1258-63
-
(1994)
Arteroscler. Thromb.
, vol.14
, pp. 1258-1263
-
-
Karayan, L.1
Qiu, S.2
Betard, C.3
Dufour, R.4
Roederer, G.5
-
101
-
-
0031472356
-
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotypephenotype correlations
-
Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. 1997. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotypephenotype correlations. Am. J. Hum. Genet. 61:1309-17
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1309-1317
-
-
Kayaalp, E.1
Treacy, E.2
Waters, P.J.3
Byck, S.4
Nowacki, P.5
Scriver, C.R.6
-
102
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B-S, Rommens JM, Buchanan JA, Markiewicz D, Cox DK, et al. 1989. Identification of the cystic fibrosis gene: Genetic analysis. Science 245:1073-80
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.-S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, D.K.5
-
104
-
-
0001780103
-
Genetics and public health: A framework for the integration of human genetics into public health practice
-
ed. MJ Khoury, W Burke, EJ Thomson. Oxford: Oxford Univ. Press
-
Khoury MJ, Burke W, Thomson EJ. 2000. Genetics and public health: A framework for the integration of human genetics into public health practice. In Genetics and Public Health in the 21st Century. Using Genetic Information to Improve Health and Prevent Disease, ed. MJ Khoury, W Burke, EJ Thomson, pp. 3-23. Oxford: Oxford Univ. Press
-
(2000)
Genetics and Public Health in the 21st Century. Using Genetic Information to Improve Health and Prevent Disease
, pp. 3-23
-
-
Khoury, M.J.1
Burke, W.2
Thomson, E.J.3
-
105
-
-
0033941841
-
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
-
Kidd JR, Pakstis AJ, Zhao H, Lu R-B, Okonofua FE, et al. 2000. Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am. J. Hum. Genet. 66:1882-99
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1882-1899
-
-
Kidd, J.R.1
Pakstis, A.J.2
Zhao, H.3
Lu, R.-B.4
Okonofua, F.E.5
-
106
-
-
0033573934
-
Genetic isolates: Separate but equal?
-
Kruglyak L. 1999. Genetic isolates: Separate but equal? Proc. Natl. Acad. Sci. USA 96:1170-72
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1170-1172
-
-
Kruglyak, L.1
-
107
-
-
0033039497
-
Prospects for wholegenome linkage disequilibrium mapping of common disease genes
-
Kruglyak L. 1999. Prospects for wholegenome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22:139-44
-
(1999)
Nat. Genet.
, vol.22
, pp. 139-144
-
-
Kruglyak, L.1
-
108
-
-
0014440428
-
Hereditary tyrosinemia in a French Canadian isolate
-
Laberge C. 1969. Hereditary tyrosinemia in a French Canadian isolate. Am. J. Hum. Genet. 21:36-45
-
(1969)
Am. J. Hum. Genet.
, vol.21
, pp. 36-45
-
-
Laberge, C.1
-
109
-
-
0011130357
-
La médecine génétique en début de siècle
-
Laberge C. 2000. La médecine génétique en début de siècle. Rech. Santé 24:26-29
-
(2000)
Rech. Santé
, vol.24
, pp. 26-29
-
-
Laberge, C.1
-
110
-
-
19244362432
-
Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians
-
Labuda M, Labuda D, Korab-Laskowska M, Cole DEC, Zietkiewicz E, et al. 1996. Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am. J. Hum. Genet. 59:633-43
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 633-643
-
-
Labuda, M.1
Labuda, D.2
Korab-Laskowska, M.3
Cole, D.E.C.4
Zietkiewicz, E.5
-
111
-
-
0011115120
-
Wandering genes
-
Lahr MM. 2000. Wandering genes. Science 289:2057
-
(2000)
Science
, vol.289
, pp. 2057
-
-
Lahr, M.M.1
-
113
-
-
0014219901
-
Experience with 37 infants with tyrosinemia
-
Larochelle J, Mortezai A, Belanger M, TremblayM, Claveau JC, AubinG. 1967. Experience with 37 infants with tyrosinemia. Can. Med. Assoc. J. 97:1051-54
-
(1967)
Can. Med. Assoc. J.
, vol.97
, pp. 1051-1054
-
-
Larochelle, J.1
Mortezai, A.2
Belanger, M.3
Tremblay, M.4
Claveau, J.C.5
Aubin, G.6
-
114
-
-
0025266556
-
Common low-density lipoprotein receptor mutations in the French Canadian population
-
Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. 1990. Common low-density lipoprotein receptor mutations in the French Canadian population. J. Clin. Invest. 85:1014-23
-
(1990)
J. Clin. Invest.
, vol.85
, pp. 1014-1023
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
116
-
-
0028108036
-
DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles
-
Lichter-Konecki U, Schlotter M, Konecki DS. 1994. DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles. Hum. Genet. 94:307-10
-
(1994)
Hum. Genet.
, vol.94
, pp. 307-310
-
-
Lichter-Konecki, U.1
Schlotter, M.2
Konecki, D.S.3
-
117
-
-
0022205077
-
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria
-
Lidsky AS, Ledley FD, DiLella AG, Kwok SCM, Daiger SP, et al. 1985. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am. J. Hum. Genet. 37:619-34
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 619-634
-
-
Lidsky, A.S.1
Ledley, F.D.2
DiLella, A.G.3
Kwok, S.C.M.4
Daiger, S.P.5
-
119
-
-
0026664355
-
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France
-
Lyonnet S, Melle D, DeBrakeleer M, Laframboise R, Rey F, et al. 1992. Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. Am. J. Hum. Genet. 51:191-96
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 191-196
-
-
Lyonnet, S.1
Melle, D.2
DeBrakeleer, M.3
Laframboise, R.4
Rey, F.5
-
120
-
-
0024441521
-
Identification of a second French-Canadian LDL receptor gene deletion and development of a rapid method to detect both deletions
-
Ma Y, Betard C, Roy M, Davignon J, Kessling AM. 1989. Identification of a second French-Canadian LDL receptor gene deletion and development of a rapid method to detect both deletions. Clin. Genet. 36:219-28
-
(1989)
Clin. Genet.
, vol.36
, pp. 219-228
-
-
Ma, Y.1
Betard, C.2
Roy, M.3
Davignon, J.4
Kessling, A.M.5
-
121
-
-
0031030140
-
Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype
-
Martino T, Kaplan F, Diamond S, Oppenheim A, Scriver CR. 1997. Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype. Hum. Mutat. 9:86-87
-
(1997)
Hum. Mutat.
, vol.9
, pp. 86-87
-
-
Martino, T.1
Kaplan, F.2
Diamond, S.3
Oppenheim, A.4
Scriver, C.R.5
-
123
-
-
0000362736
-
-
See Ref.
-
Mitchell GA, Grompe M, Lambert M, Tanguay RM. 2001. Hypertyrosinemia. See Ref. 151, pp. 1777-805
-
(2001)
Hypertyrosinemia
, vol.151
, pp. 1777-1805
-
-
Mitchell, G.A.1
Grompe, M.2
Lambert, M.3
Tanguay, R.M.4
-
124
-
-
0029798775
-
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools
-
Mitchell JJ, Capua A, Clow C, Scriver CR. 1996. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools. Am. J. Hum. Genet. 59:793-98
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 793-798
-
-
Mitchell, J.J.1
Capua, A.2
Clow, C.3
Scriver, C.R.4
-
125
-
-
0025053164
-
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
-
Monsalve MV, Henderson H, Roederer G, Julien P, Deeb S, et al. 1990. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J. Clin. Invest. 86:728-34
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 728-734
-
-
Monsalve, M.V.1
Henderson, H.2
Roederer, G.3
Julien, P.4
Deeb, S.5
-
127
-
-
0024558277
-
Homozygous familial hypercholesterolemia among French Canadians in Québec province
-
Moorjani S, Roy M, Gagné C, Davignon J, Brun D, et al. 1989. Homozygous familial hypercholesterolemia among French Canadians in Québec province. Arteriosclerosis 9:211-16
-
(1989)
Arteriosclerosis
, vol.9
, pp. 211-216
-
-
Moorjani, S.1
Roy, M.2
Gagné, C.3
Davignon, J.4
Brun, D.5
-
129
-
-
0028229223
-
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
-
Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, et al. 1994. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat. Genet. 7:169-75
-
(1994)
Nat. Genet.
, vol.7
, pp. 169-175
-
-
Morral, N.1
Bertranpetit, J.2
Estivill, X.3
Nunes, V.4
Casals, T.5
-
130
-
-
0023252353
-
A deletion involving Alu sequences in the β-hexosaminidase α-chain of French Canadians with Tay-Sachs disease
-
Myerowitz R, Hogikyan ND. 1987. A deletion involving Alu sequences in the β-hexosaminidase α-chain of French Canadians with Tay-Sachs disease. J. Biol. Chem. 262:15396-99
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 15396-15399
-
-
Myerowitz, R.1
Hogikyan, N.D.2
-
131
-
-
0026786773
-
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec
-
Normand T, Bergeron J, Fernandes-Margallo T, Bharucha A, Ven Murthy MR, et al. 1992. Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Hum. Genet. 89:671-75
-
(1992)
Hum. Genet.
, vol.89
, pp. 671-675
-
-
Normand, T.1
Bergeron, J.2
Fernandes-Margallo, T.3
Bharucha, A.4
Ven Murthy, M.R.5
-
132
-
-
0027193655
-
Sporadic alleles, including a novel mutation, characterize β-thalassemia in Ashkenazi Jews
-
Oppenheim A, Oron V, Filon D, Fearon CC, Rachmilewitz EA, et al. 1993. Sporadic alleles, including a novel mutation, characterize β-thalassemia in Ashkenazi Jews. Hum. Mutat. 2:155-57
-
(1993)
Hum. Mutat.
, vol.2
, pp. 155-157
-
-
Oppenheim, A.1
Oron, V.2
Filon, D.3
Fearon, C.C.4
Rachmilewitz, E.A.5
-
133
-
-
0025977277
-
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: Assignment of the gene to chromosome 15
-
Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavanee W, Gagné R. 1991. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: Assignment of the gene to chromosome 15. Am. J. Hum. Genet. 48:525-35
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 525-535
-
-
Phaneuf, D.1
Labelle, Y.2
Bérubé, D.3
Arden, K.4
Cavanee, W.5
Gagné, R.6
-
134
-
-
0027919803
-
Who are the Europeans?
-
Piazza A. 1993. Who are the Europeans? Science 260:1767-68
-
(1993)
Science
, vol.260
, pp. 1767-1768
-
-
Piazza, A.1
-
135
-
-
0034255014
-
Role of the cystic fibrosis transmembrane conductance regulator in innate immunity of Pseudomonas aeruginosa infections
-
a. Pier GB. 2000. Role of the cystic fibrosis transmembrane conductance regulator in innate immunity of Pseudomonas aeruginosa infections. Proc. Natl. Acad. Sci. USA 97:8822-28
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 8822-8828
-
-
Pier, G.B.1
-
136
-
-
0030061306
-
Frequency of the IVS12_5G->A splice mutation of the fumarylacetoacetate hydroxylase gene in carriers of hereditary tyrosinemia in the French Canadian population of Saguenay-Lac-St-Jean
-
Pourdier J, St-Louis M, Lettre F, Gibson K, Prévost C, et al. 1996. Frequency of the IVS12_5G->A splice mutation of the fumarylacetoacetate hydroxylase gene in carriers of hereditary tyrosinemia in the French Canadian population of Saguenay-Lac-St-Jean. Prenat. Diagn. 16:59-64
-
(1996)
Prenat. Diagn.
, vol.16
, pp. 59-64
-
-
Pourdier, J.1
St-Louis, M.2
Lettre, F.3
Gibson, K.4
Prévost, C.5
-
137
-
-
0024060536
-
Le gène de la β-thalassémie au Canada français: Relance dans le comté de Portneuf
-
Prévost C, Laframboise R, Bardanis M, Clow C, Lancaster G, et al. 1988. Le gène de la β-thalassémie au Canada français: Relance dans le comté de Portneuf. Union Méd. Can. 118:242-44
-
(1988)
Union Méd. Can.
, vol.118
, pp. 242-244
-
-
Prévost, C.1
Laframboise, R.2
Bardanis, M.3
Clow, C.4
Lancaster, G.5
-
138
-
-
0033361944
-
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
-
Richter A, Rioux JD, Bouchard J-P, Mercier J, Mathieu J, et al. 1999. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am. J. Hum. Genet. 64:768-75
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 768-775
-
-
Richter, A.1
Rioux, J.D.2
Bouchard, J.-P.3
Mercier, J.4
Mathieu, J.5
-
139
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan JR, Rommens JM, Kerem B-S, Alon N, Rozmahel R, et al. 1989. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245:1066-73
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.-S.3
Alon, N.4
Rozmahel, R.5
-
140
-
-
0034012566
-
Correlation between mutations and age in cystic fibrosis in a French Canadian population
-
Rivard SR, Allard C, Leblanc J-P, Milot M, Aubin G, et al. 2000. Correlation between mutations and age in cystic fibrosis in a French Canadian population. J. Med. Genet. 37:225-27
-
(2000)
J. Med. Genet.
, vol.37
, pp. 225-227
-
-
Rivard, S.R.1
Allard, C.2
Leblanc, J.-P.3
Milot, M.4
Aubin, G.5
-
141
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem B-S, Drumm ML, Melmer G, et al. 1989. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245:1059-66
-
(1989)
Science
, vol.245
, pp. 1059-1066
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.-S.3
Drumm, M.L.4
Melmer, G.5
-
142
-
-
0026531826
-
The human fumaryllacetoacetase gene: Characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 pseudodeficiency
-
Rootwelt H, Kvittingen EA, Hoie K, Agsteribbe E, Hartog M, et al. 1992. The human fumaryllacetoacetase gene: Characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 pseudodeficiency. Hum. Genet. 89:229-33
-
(1992)
Hum. Genet.
, vol.89
, pp. 229-233
-
-
Rootwelt, H.1
Kvittingen, E.A.2
Hoie, K.3
Agsteribbe, E.4
Hartog, M.5
-
143
-
-
0026532741
-
Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis
-
Rozen R, De Braekeeler M, Daigneault J, Ferreira-Rajabi L, Gerdes M, et al. 1992. Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am. J. Hum. Genet. 42:360-64
-
(1992)
Am. J. Hum. Genet.
, vol.42
, pp. 360-364
-
-
Rozen, R.1
De Braekeeler, M.2
Daigneault, J.3
Ferreira-Rajabi, L.4
Gerdes, M.5
-
144
-
-
0029010382
-
L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis
-
Rozen R, Ferreira-Rajabi L, Robb L, Colman N. 1995. L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. Am. J. Med. Genet. 57:437-39
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 437-439
-
-
Rozen, R.1
Ferreira-Rajabi, L.2
Robb, L.3
Colman, N.4
-
145
-
-
0025116143
-
Cystic fibrosis mutations in North American populations of French ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian families
-
Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, et al. 1990. Cystic fibrosis mutations in North American populations of French ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian families. Am. J. Hum. Genet. 47:606-10
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 606-610
-
-
Rozen, R.1
Schwartz, R.H.2
Hilman, B.C.3
Stanislovitis, P.4
Horn, G.T.5
-
147
-
-
0026503640
-
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
-
Schoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, et al. 1992. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am. J. Hum. Genet. 50:222-28
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 222-228
-
-
Schoshani, T.1
Augarten, A.2
Gazit, E.3
Bashan, N.4
Yahav, Y.5
-
148
-
-
0014219955
-
The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria
-
Scriver CR. 1967. The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria. Can. Med. Assoc. J. 97:1073-76
-
(1967)
Can. Med. Assoc. J.
, vol.97
, pp. 1073-1076
-
-
Scriver, C.R.1
-
149
-
-
0014754697
-
Vitamin D dependency
-
Scriver CR. 1970. Vitamin D dependency. Pediatrics 45:361-63
-
(1970)
Pediatrics
, vol.45
, pp. 361-363
-
-
Scriver, C.R.1
-
150
-
-
0015026952
-
Fondements biologiques de la sensibilité du rachitisme à la vitamine D
-
Scriver CR. 1971. Fondements biologiques de la sensibilité du rachitisme à la vitamine D. Union Med. Can. 100:462-74
-
(1971)
Union Med. Can.
, vol.100
, pp. 462-474
-
-
Scriver, C.R.1
-
151
-
-
0024191845
-
Cases are not incidence and vice versa
-
Scriver CR. 1988. Cases are not incidence and vice versa. Genet. Epidemiol. 5:481-87
-
(1988)
Genet. Epidemiol.
, vol.5
, pp. 481-487
-
-
Scriver, C.R.1
-
152
-
-
0023720806
-
Human genes: Determinants of sick populations and sick patients
-
Scriver CR. 1988. Human genes: Determinants of sick populations and sick patients. Can. J. Public Health 79:222-24
-
(1988)
Can. J. Public Health
, vol.79
, pp. 222-224
-
-
Scriver, C.R.1
-
154
-
-
0029680347
-
The phenylalanine hydroxylase locus: A marker for the history of phenylketonuria and human genetic diversity
-
ed. KM Weiss. Chichester: Wiley
-
Scriver CR, Byck S, Prevost L, Hoang L. 1996. The phenylalanine hydroxylase locus: A marker for the history of phenylketonuria and human genetic diversity. In Variation in the Human Genome. Ciba Found. Symp. No. 197, ed. KM Weiss, pp. 73-96. Chichester: Wiley
-
(1996)
Variation in the Human Genome. Ciba Found. Symp. No. 197
, pp. 73-96
-
-
Scriver, C.R.1
Byck, S.2
Prevost, L.3
Hoang, L.4
-
155
-
-
0026726497
-
Invited editorial: Cystic fibrosis genotypes and views on screening and both heterogeneous and population related
-
Scriver CR, Fujiwara TM. 1992. Invited editorial: Cystic fibrosis genotypes and views on screening and both heterogeneous and population related. Am. J. Hum. Genet. 51:943-50
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 943-950
-
-
Scriver, C.R.1
Fujiwara, T.M.2
-
156
-
-
0027164607
-
Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: An overview
-
Scriver CR, John SMW, Rozen R, Eisensmith R, Woo SLC. 1993. Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: An overview. Dev. Brain Dysfunct. 6:11-25
-
(1993)
Dev. Brain Dysfunct.
, vol.6
, pp. 11-25
-
-
Scriver, C.R.1
John, S.M.W.2
Rozen, R.3
Eisensmith, R.4
Woo, S.L.C.5
-
159
-
-
0032971153
-
Genomics, mutations and the internet: The naming and use of parts
-
Scriver CR, Nowacki PM. 1999. Genomics, mutations and the internet: The naming and use of parts. J. Inherit. Metab. Disord. 22:519-30
-
(1999)
J. Inherit. Metab. Disord.
, vol.22
, pp. 519-530
-
-
Scriver, C.R.1
Nowacki, P.M.2
-
160
-
-
0019851261
-
On the heritability of rickets, a common disease (Mendel, mammals and phosphate)
-
Scriver CR, Tenenhouse HS. 1981. On the heritability of rickets, a common disease (Mendel, mammals and phosphate). Johns Hopkins Med. J. 149:179-87
-
(1981)
Johns Hopkins Med. J.
, vol.149
, pp. 179-187
-
-
Scriver, C.R.1
Tenenhouse, H.S.2
-
161
-
-
0033168957
-
Monogenic traits are not simple. Lessons from phenylketonuria
-
Scriver CR, Waters PJ. 1999. Monogenic traits are not simple. Lessons from phenylketonuria. Trends Genet. 15:267-72
-
(1999)
Trends Genet.
, vol.15
, pp. 267-272
-
-
Scriver, C.R.1
Waters, P.J.2
-
162
-
-
0001196827
-
The 25-hydroxyvitamin D 1 α-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
-
St Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH. 1997. The 25-hydroxyvitamin D 1 α-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J. Bone Miner. Res. 12:1552-59
-
(1997)
J. Bone Miner. Res.
, vol.12
, pp. 1552-1559
-
-
St Arnaud, R.1
Messerlian, S.2
Moir, J.M.3
Omdahl, J.L.4
Glorieux, F.H.5
-
163
-
-
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
-
164
-
-
0027865507
-
Celtic phenylketonuria chromosomes found? Evidence in two regions of Quebec province
-
Treacy E, Byck S, Clow C, Scriver CR. 1993. Celtic phenylketonuria chromosomes found? Evidence in two regions of Quebec province. Eur. J. Hum. Genet. 1:220-28
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 220-228
-
-
Treacy, E.1
Byck, S.2
Clow, C.3
Scriver, C.R.4
-
165
-
-
0030030672
-
Hereditary tyrosinemia type I: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship
-
van Amstel JKP, Bergman AJI, van Beurden EA, Roijers JFM, Peelen T, et al. 1996. Hereditary tyrosinemia type I: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Hum. Genet. 97:51-59
-
(1996)
Hum. Genet.
, vol.97
, pp. 51-59
-
-
Van Amstel, J.K.P.1
Bergman, A.J.I.2
Van Beurden, E.A.3
Roijers, J.F.M.4
Peelen, T.5
-
166
-
-
0030871680
-
Geographic distribution of French Canadian low density lipoprotein receptor gene mutations in the province of Quebec
-
Vohl M-C, Moorjani S, Roy M, Gaudet D, Torres AL, et al. 1997. Geographic distribution of French Canadian low density lipoprotein receptor gene mutations in the province of Quebec. Clin. Genet. 52:1-6
-
(1997)
Clin. Genet.
, vol.52
, pp. 1-6
-
-
Vohl, M.-C.1
Moorjani, S.2
Roy, M.3
Gaudet, D.4
Torres, A.L.5
-
168
-
-
0011141948
-
-
See Ref.
-
Weatherall DJ, Clegg JB, Higgs DR, Wood WG. 2001. The Hemoglobinopathies. See Ref. 151, pp. 4571-636
-
(2001)
The Hemoglobinopathies
, vol.151
, pp. 4571-4636
-
-
Weatherall, D.J.1
Clegg, J.B.2
Higgs, D.R.3
Wood, W.G.4
-
169
-
-
0030078281
-
Is there a paradigm shift in genetics? Lessons from the study of human diseases
-
Weiss KM. 1996. Is there a paradigm shift in genetics? Lessons from the study of human diseases. Mol. Phylogenet. Evol. 5:259-65
-
(1996)
Mol. Phylogenet. Evol.
, vol.5
, pp. 259-265
-
-
Weiss, K.M.1
-
170
-
-
0001752544
-
-
See Ref.
-
Welsch MJ, Ramsey BW, Accuraso F, Cutting GR. 2001. Cystic Fibrosis. See Ref. 151, pp. 5121-88
-
(2001)
Cystic Fibrosis
, vol.151
, pp. 5121-5188
-
-
Welsch, M.J.1
Ramsey, B.W.2
Accuraso, F.3
Cutting, G.R.4
-
171
-
-
0027253053
-
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene
-
Wood S, Schertzer M, Hayden M, Ma Y. 1993. Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. Hum. Genet. 91:312-16
-
(1993)
Hum. Genet.
, vol.91
, pp. 312-316
-
-
Wood, S.1
Schertzer, M.2
Hayden, M.3
Ma, Y.4
|