-
1
-
-
0030456861
-
Exclusion of allelism of Noonan syndrome and Neurofibromatosis-type 1 in a large family with Noonan syndrome-Neurofibromatosis association
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 347-355
-
-
Bahuau, M.1
Flintoff, W.2
Assouline, B.3
Lyonnet, S.4
Lemerrer, M.5
Prieur, M.6
Guilloud-Bataille, M.7
Feingold, N.8
Munnich, A.9
Vidaud, M.10
Vidaud, D.11
-
9
-
-
0035853287
-
A novel mutation in the Neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
-
(2001)
J. Mol. Biol.
, vol.307
, pp. 1261-1270
-
-
Fang, L.J.1
Simard, M.J.2
Vidaud, D.3
Assouline, B.4
Lemieux, B.5
Vidaud, M.6
Chabot, B.7
Thirion, J.P.8
-
13
-
-
17044441365
-
Clouston hidrotic ectodermal dysplasia (HED): Genetic homogeneity, presence of a founder effect in the French Canadians population and fine genetic mapping
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 372-380
-
-
Kibar, Z.1
Dubé, M.P.2
Powell, J.3
Mccuaig, C.4
Hayflick, S.J.5
Zonana, J.6
Hovnanian, A.7
Radhakrishna, U.8
Antonarakis, S.E.9
Benohanian, A.10
Sheeran, A.D.11
Stephan, M.L.12
Gosselin, R.13
Kelsell, D.14
Christianson, A.L.15
Fraser, F.C.16
Der Kaloustian, V.M.17
Rouleau, G.A.18
-
16
-
-
19244362432
-
Vitamin D deficiency, rickets, and the founder effect in French Canadianss
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 633-643
-
-
Labuda, M.1
Labuda, D.2
Korablaskoska, M.3
Colede, C.4
Zeitkeiwicz, E.5
Weissembach, J.6
Popowska, E.7
-
19
-
-
0028928718
-
Genomic organization of the Neurofibromatosis 1 gene (NF1)
-
(1995)
Genomics
, vol.25
, pp. 9-18
-
-
Li, Y.1
O'connell, P.2
Breidenbach, H.H.3
Cawthon, R.4
Stevens, J.5
Xu, G.6
Neil, S.7
Robertson, M.8
White, R.9
Viskochil, D.10
-
22
-
-
0027379869
-
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 488-496
-
-
Morin, C.1
Mitchell, G.2
Larochelle, J.3
Lambert, M.4
Ogier, H.5
Robinson, B.H.6
De Braekeller, M.7
-
23
-
-
0029938862
-
Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 159-166
-
-
Purandare, S.M.1
Cawthon, R.2
Nelson, L.M.3
Sawada, S.4
Watkins, W.S.5
Ward, K.6
Jorde, L.B.7
Viskochil, D.H.8
-
28
-
-
0029956803
-
General score tests for association of genetic markers with disease using cases and their parents
-
(1996)
Genet. Epidemiol.
, vol.13
, pp. 423-449
-
-
Schaid, D.J.1
-
32
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci one or more polymorphic marker loci
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 777-787
-
-
Terwilliger, J.D.1
-
34
-
-
0032231382
-
Founder BRCA1 and BRCA2 mutations in French Canadians breast and ovarian cancer families
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1341-1351
-
-
Tonin, P.N.1
Mes-Masson, A.M.2
Futreal, P.A.3
Morgan, K.4
Mahon, M.5
Foulkes, W.D.6
De Cole, C.7
Provencher, D.8
Ghadirian, P.9
Narod, S.A.10
-
37
-
-
0030871680
-
Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the province of Québec
-
(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
Minnich, A.6
Gagné, C.7
Trembaly, G.8
Lambert, M.9
Bergeron, J.10
Couture, P.11
Perron, P.12
Blaichman, S.13
Brun, L.D.14
Davignon, J.15
Lupien, P.J.16
Després, J.P.17
-
38
-
-
0033362028
-
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1698-1710
-
-
Xiong, L.1
Labuda, M.2
Li, D.S.3
Hudson, T.J.4
Desbiens, R.5
Parry, G.6
Verret, S.7
Langevin, P.8
Mercho, S.9
Seni, M.H.10
Scheffer, I.11
Dubeau, F.12
Berkovic, S.F.13
Andermann, F.14
Andermann, E.15
Pandolfo, M.16
-
39
-
-
0003935467
-
-
Benjamin/Cummings Pub, California, USA
-
(1987)
Genetics
, pp. 845-848
-
-
Zubay, G.1
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