-
3
-
-
0031572583
-
Prenatal genetic carrier testing using triple disease screening
-
(1997)
J. Am. Med. Assoc.
, vol.278
, pp. 1268-1272
-
-
Eng, C.M.1
Schechter, C.2
Robinowitz, J.3
Fulop, G.4
Burgert, T.5
Levy, B.6
Zinberg, R.7
Desnick, R.J.8
-
7
-
-
0031679495
-
Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1453-1462
-
-
Pastinen, T.1
Perola, M.2
Niini, P.3
Terwilliger, J.4
Salomaa, V.5
Vartiainen, E.6
Peltonen, L.7
Syvänen, A.8
-
9
-
-
0034692434
-
Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients
-
(2000)
J. Natl Cancer. Inst.
, vol.92
, pp. 1529-1531
-
-
Syrjäkoski, K.1
Vahteristo, P.2
Eerola, H.3
Tamminen, A.4
Kivinummi, K.5
Sarantaus, L.6
Holli, K.7
Blomqvist, C.8
Kallioniemi, O.P.9
Kainu, T.10
-
10
-
-
0032555020
-
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
-
(1998)
New Engl. J. Med.
, vol.338
, pp. 1481-1487
-
-
Aaltonen, L.A.1
Salovaara, R.2
Kristo, P.3
Canzian, F.4
Hemminki, A.5
Peltomäki, P.6
Chadwick, R.B.7
Kaariainen, H.8
Eskelinen, M.9
Jarvinen, H.10
-
11
-
-
0031472271
-
Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study
-
(1997)
Arterioscler. Thromb. Vasc. Biol.
, vol.17
, pp. 3127-3138
-
-
Vuorio, A.F.1
Turtola, H.2
Piilahti, K.M.3
Repo, P.4
Kanninen, T.5
Kontula, K.6
-
13
-
-
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
Koeleman, B.P.2
Koster, T.3
Rosendaal, F.R.4
Dirven, R.J.5
De Ronde, H.6
Van der Velden, P.A.7
Reitsma, P.H.8
-
15
-
-
0031971898
-
Dual origins of Finns revealed by Y chromosome haplotype variation
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1171-1179
-
-
Kittles, R.A.1
Perola, M.2
Peltonen, L.3
Bergen, A.W.4
Aragon, R.A.5
Virkkunen, M.6
Linnoila, M.7
Goldman, D.8
Long, J.C.9
-
16
-
-
0003442114
-
The age of the mutations in the Finnish heritage: A genealogical and linkage disequilibrium study
-
Academic Dissertation., University of Helsinki, Finland.
-
(1999)
-
-
Varilo, T.1
-
18
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
(1999)
Nat. Genet.
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Zhang, Y.2
Ross, B.3
Lonka, L.4
Takkunen, E.5
Messer, A.6
Sharp, J.7
Wheeler, R.8
Kusumi, K.9
Mole, S.10
-
19
-
-
0032706624
-
A new gene., encoding an anion transporter, is mutated in sialic acid storage diseases
-
(1999)
Nat. Genet.
, vol.23
, pp. 462-465
-
-
Verheijen, F.W.1
Verbeek, E.2
Aula, N.3
Beerens, C.E.4
Havelaar, A.C.5
Joosse, M.6
Peltonen, L.7
Aula, P.8
Galjaard, H.9
Van der Spek, P.J.10
-
20
-
-
16144368521
-
Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
-
(1996)
Nat. Genet.
, vol.14
, pp. 316-319
-
-
Hoglund, P.1
Haila, S.2
Socha, J.3
Tomaszewski, L.4
Saarialho-Kere, U.5
Karjalainen-Lindsberg, M.L.6
Airola, K.7
Holmberg, C.8
De la Chapelle, A.9
Kere, J.10
-
22
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
-
(1998)
Mol. Cell
, vol.1
, pp. 575-582
-
-
Kestilä, M.1
Lenkkeri, U.2
Mannikko, M.3
Lamerdin, J.4
McCready, P.5
Putaala, H.6
Ruotsalainen, V.7
Morita, T.8
Nissinen, M.9
Herva, R.10
-
23
-
-
0026089364
-
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
-
(1991)
EMBO J.
, vol.10
, pp. 51-58
-
-
Ikonen, E.1
Baumann, M.2
Gron, K.3
Syvänen, A.C.4
Enomaa, N.5
Halila, R.6
Aula, P.7
Peltonen, L.8
-
24
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hastbacka, J.1
de la Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
-
26
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
27
-
-
9844245885
-
Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Mila, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
-
28
-
-
0028013685
-
Cystic fibrosis in a low-incidence population: Two major mutations in Finland
-
(1994)
Hum. Genet.
, vol.93
, pp. 162-166
-
-
Kere, J.1
Estivill, X.2
Chillon, M.3
Morral, N.4
Nunes, V.5
Norio, R.6
Savilahti, E.7
De la Chapelle, A.8
-
31
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
TIBD Consortium
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
35
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
Shaw, N.7
Lane, C.R.8
Lim, E.P.9
Kalyanaraman, N.10
-
37
-
-
0033230321
-
Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden)
-
(1999)
Blood
, vol.94
, pp. 3062-3066
-
-
Faioni, E.M.1
Franchi, F.2
Bucciarelli, P.3
Margaglione, M.4
De Stefano, V.5
Castaman, G.6
Finazzi, G.7
Mannucci, P.M.8
-
38
-
-
0000655270
-
Genetic distance between populations
-
(1972)
Am. Nat.
, vol.106
, pp. 283-292
-
-
Nei, M.1
-
40
-
-
0032524383
-
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
-
(1998)
Science
, vol.280
, pp. 1077-1082
-
-
Wang, D.G.1
Fan, J.B.2
Siao, C.J.3
Berno, A.4
Young, P.5
Sapolsky, R.6
Ghandour, G.7
Perkins, N.8
Winchester, E.9
Spencer, J.10
-
41
-
-
0032829883
-
Genome-wide mapping with biallelic markers in Arabidopsis thaliana
-
(1999)
Nat. Genet.
, vol.23
, pp. 203-207
-
-
Cho, R.J.1
Mindrinos, M.2
Richards, D.R.3
Sapolsky, R.J.4
Anderson, M.5
Drenkard, E.6
Dewdney, J.7
Reuber, T.L.8
Stammers, M.9
Federspiel, N.10
-
43
-
-
0032415283
-
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays
-
(1998)
Genome Res.
, vol.8
, pp. 1245-1258
-
-
Hacia, J.G.1
Sun, B.2
Hunt, N.3
Edgemon, K.4
Mosbrook, D.5
Robbins, C.6
Fodor, S.P.7
Tagle, D.A.8
Collins, F.S.9
-
44
-
-
0033936872
-
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
-
(2000)
Genome Res.
, vol.10
, pp. 853-860
-
-
Fan, J.B.1
Chen, X.2
Halushka, M.K.3
Berno, A.4
Huang, X.5
Ryder, T.6
Lipshutz, R.J.7
Lockhart, D.J.8
Chakravarti, A.9
-
47
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
Camp, L.A.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.L.7
Peltonen, L.8
-
48
-
-
0346599403
-
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
-
The Finnish-German APECED Consortium
-
(1997)
Nat. Genet.
, vol.17
, pp. 399-403
-
-
-
49
-
-
0034125964
-
Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays
-
(2000)
Clin. Chem.
, vol.46
, pp. 811-816
-
-
Romppanen, E.L.1
Mononen, I.2
-
50
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
Melchionda, S.4
Petersen, M.5
Brondum-Nielsen, K.6
Metspalu, A.7
Oitmaa, E.8
Pisano, M.9
Fortina, P.10
-
57
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, A.1
Susi, A.2
-
63
-
-
0344699322
-
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
-
(1999)
Nat. Genet
, vol.21
, pp. 293-296
-
-
Torrents, D.1
Mykkanen, J.2
Pineda, M.3
Feliubadalo, L.4
Estevez, R.5
De Cid, R.6
Sanjurjo, P.7
Zorzano, A.8
Nunes, V.9
Huoponen, K.10
|