-
1
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
Aittomäki K, Lucena J, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, et al (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:959-968
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomäki, K.1
Lucena, J.2
Pakarinen, P.3
Sistonen, P.4
Tapanainen, J.5
Gromoll, J.6
Kaskikari, R.7
-
2
-
-
0027409441
-
Identification of a low affinity, high capacity transporter of cationic amino acids in mouse liver
-
Gloss EI, Albritton LM, Kim JW, Cunningham JM (1993a) Identification of a low affinity, high capacity transporter of cationic amino acids in mouse liver. J Biol Chem 268:7538-7544
-
(1993)
J Biol Chem
, vol.268
, pp. 7538-7544
-
-
Gloss, E.I.1
Albritton, L.M.2
Kim, J.W.3
Cunningham, J.M.4
-
3
-
-
0027522050
-
Characterization of the third member of the MCAT family of cationic amino acid transporters
-
Gloss EI, Lyons R, Kelly C, Cunningham JM (1993b) Characterization of the third member of the MCAT family of cationic amino acid transporters. J Biol Chem 268:20796-20800
-
(1993)
J Biol Chem
, vol.268
, pp. 20796-20800
-
-
Gloss, E.I.1
Lyons, R.2
Kelly, C.3
Cunningham, J.M.4
-
5
-
-
0023935910
-
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation
-
Cross N, Tolan D, Cox T (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 53:881-885
-
(1988)
Cell
, vol.53
, pp. 881-885
-
-
Cross, N.1
Tolan, D.2
Cox, T.3
-
6
-
-
0023720148
-
T-cell antigen receptor genes and T-cell recognition
-
Davis MM, Bjorkman PJ (1988) T-cell antigen receptor genes and T-cell recognition. Nature 334:395-402
-
(1988)
Nature
, vol.334
, pp. 395-402
-
-
Davis, M.M.1
Bjorkman, P.J.2
-
7
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
8
-
-
0019023883
-
Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance
-
Desjeux J-F, Rajantie J, Simell O, Dumontier A-M, Perheentupa J (1980) Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. J Clin Invest 65:1382-1387
-
(1980)
J Clin Invest
, vol.65
, pp. 1382-1387
-
-
Desjeux, J.-F.1
Rajantie, J.2
Simell, O.3
Dumontier, A.-M.4
Perheentupa, J.5
-
9
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
10
-
-
85030294854
-
-
Fondation Jean DAUSSET-CEPH (1996) http://www .cephb.fr
-
(1996)
-
-
-
11
-
-
85030296582
-
-
Généthon (1996) http://www.genethon.fr
-
(1996)
-
-
-
12
-
-
0028231090
-
The 1993-1994 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Milasseau P, Bernardi G, et al (1994) The 1993-1994 Généthon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Milasseau, P.6
Bernardi, G.7
-
13
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211
-
(1992)
Nat Genet
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
De La Chapelle, A.2
Kaitila, I.3
Sistonen, P.4
Weaver, A.5
Lander, E.6
-
14
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, et al (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hästbacka, 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
-
16
-
-
0027315230
-
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis
-
Hellsten E, Vesa J, Speer MC, Mäkelä T, Järvelä I, Alitalo K, Ott J, et al (1993) Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16:720-725
-
(1993)
Genomics
, vol.16
, pp. 720-725
-
-
Hellsten, E.1
Vesa, J.2
Speer, M.C.3
Mäkelä, T.4
Järvelä, I.5
Alitalo, K.6
Ott, J.7
-
17
-
-
0025860022
-
Structure and expression of a cluster of human hematopoietic serine protease genes found on chromosome 14q11.2
-
Heusel JW, Hanson RD, Silverman GA, Ley TJ (1991) Structure and expression of a cluster of human hematopoietic serine protease genes found on chromosome 14q11.2. J Biol Chem 266:6152-6158
-
(1991)
J Biol Chem
, vol.266
, pp. 6152-6158
-
-
Heusel, J.W.1
Hanson, R.D.2
Silverman, G.A.3
Ley, T.J.4
-
18
-
-
16144368521
-
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhea
-
Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg M-L, Airola K, et al (1996) Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhea. Nat Genet 14:316-319
-
(1996)
Nat Genet
, vol.14
, pp. 316-319
-
-
Höglund, P.1
Haila, S.2
Socha, J.3
Tomaszewski, L.4
Saarialho-Kere, U.5
Karjalainen-Lindsberg, M.-L.6
Airola, K.7
-
19
-
-
0026089364
-
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
-
Ikonen E, Baumann M, Grön K, Syvänen A-C, Enomaa N, Halila R, Aula P, et al (1991) Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 10:51-58
-
(1991)
EMBO J
, vol.10
, pp. 51-58
-
-
Ikonen, E.1
Baumann, M.2
Grön, K.3
Syvänen, A.-C.4
Enomaa, N.5
Halila, R.6
Aula, P.7
-
20
-
-
0000948091
-
Lysinuric protein intolerance: Studies on 17 Italian patients
-
Incerti B, Andria G, Parenti G, Sebastio G, Ghezzi M, Strisciuglio P, Sperlì D, et al (1993) Lysinuric protein intolerance: studies on 17 Italian patients. Am J Hum Genet Suppl 53: 908
-
(1993)
Am J Hum Genet Suppl
, vol.53
, pp. 908
-
-
Incerti, B.1
Andria, G.2
Parenti, G.3
Sebastio, G.4
Ghezzi, M.5
Strisciuglio, P.6
Sperlì, D.7
-
21
-
-
0021259603
-
Hyperammonemia in lysinuric protein intolerance
-
Kato T, Mizutani N, Ban M (1984) Hyperammonemia in lysinuric protein intolerance. Pediatrics 73:489-492
-
(1984)
Pediatrics
, vol.73
, pp. 489-492
-
-
Kato, T.1
Mizutani, N.2
Ban, M.3
-
22
-
-
0028203470
-
The human T-cell receptor TCRAC/ TCRDC (C-alpha/C-delta) region: Organization, sequence, and evolution of 97.6 kb of DNA
-
Koop BF, Rowen L, Wang K, Kuo CL, Seto D, Lenstra JA, Howard S, et al (1994) The human T-cell receptor TCRAC/ TCRDC (C-alpha/C-delta) region: organization, sequence, and evolution of 97.6 kb of DNA. Genomics 19:478-493
-
(1994)
Genomics
, vol.19
, pp. 478-493
-
-
Koop, B.F.1
Rowen, L.2
Wang, K.3
Kuo, C.L.4
Seto, D.5
Lenstra, J.A.6
Howard, S.7
-
23
-
-
0026648330
-
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
-
Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J (1992) Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest 90:160-164
-
(1992)
J Clin Invest
, vol.90
, pp. 160-164
-
-
Kure, S.1
Takayanagi, M.2
Narisawa, K.3
Tada, K.4
Leisti, J.5
-
25
-
-
85030291903
-
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance
-
in press
-
Lauteala T, Horelli-Kuitunen N., Closs EI, Savontaus M-L, Lukkarinen M, Simell O, Cunningham J, et al. Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance. Hum Genet (in press)
-
Hum Genet
-
-
Lauteala, T.1
Horelli-Kuitunen, N.2
Closs, E.I.3
Savontaus, M.-L.4
Lukkarinen, M.5
Simell, O.6
Cunningham, J.7
-
26
-
-
0027236091
-
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping
-
Lehesjoki A-E, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A (1993) Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 2:1229-1234
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1229-1234
-
-
Lehesjoki, A.-E.1
Koskiniemi, M.2
Norio, R.3
Tirrito, S.4
Sistonen, P.5
Lander, E.6
De La Chapelle, A.7
-
27
-
-
0026315218
-
Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis
-
Mitchell A, Bale AE, Wang-ge M, Yi HF, White R, Pirtle RM, McBride OW (1991) Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis. Genomics 11:1063-1070
-
(1991)
Genomics
, vol.11
, pp. 1063-1070
-
-
Mitchell, A.1
Bale, A.E.2
Wang-ge, M.3
Yi, H.F.4
White, R.5
Pirtle, R.M.6
McBride, O.W.7
-
28
-
-
0024543254
-
At least two mutant alleles of ornithine δ-aminotransferase cause gyrate atrophy of the choroid and retina in Finns
-
Mitchell G, Brody L, Sipilä I, Looney J, Wong C, Engelhardt J, Patel A, et al (1989) At least two mutant alleles of ornithine δ-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Proc Natl Acad Sci USA 86:197-201
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 197-201
-
-
Mitchell, G.1
Brody, L.2
Sipilä, I.3
Looney, J.4
Wong, C.5
Engelhardt, J.6
Patel, A.7
-
30
-
-
0023235264
-
Immunological abnormalities in a patient with lysinuric protein intolerance
-
Nagata M, Suzuki M, Kawamura G, Kono N, Koda N, Yamaguchi S, Aoki K (1987) Immunological abnormalities in a patient with lysinuric protein intolerance. Eur J Pediatr 146: 427-428
-
(1987)
Eur J Pediatr
, vol.146
, pp. 427-428
-
-
Nagata, M.1
Suzuki, M.2
Kawamura, G.3
Kono, N.4
Koda, N.5
Yamaguchi, S.6
Aoki, K.7
-
31
-
-
0015858194
-
Hereditary diseases in Finland: Rare flora in rare soil
-
Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland: rare flora in rare soil. Ann Clin Res 5: 109-141
-
(1973)
Ann Clin Res
, vol.5
, pp. 109-141
-
-
Norio, R.1
Nevanlinna, H.R.2
Perheentupa, J.3
-
32
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
-
O'Connel JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 11:402-408
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connel, J.R.1
Weeks, D.E.2
-
33
-
-
0028285367
-
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: Case reports and autopsy findings of four pediatric patients
-
Parto K, Kallajoki M, Aho H, Simell O (1994) Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. Hum Pathol 25:400-407
-
(1994)
Hum Pathol
, vol.25
, pp. 400-407
-
-
Parto, K.1
Kallajoki, M.2
Aho, H.3
Simell, O.4
-
34
-
-
0027358965
-
Pulmonary manifestations in lysinuric protein intolerance
-
Parto K, Svedström E, Majurin M-L, Härkönen R, Simell O (1993) Pulmonary manifestations in lysinuric protein intolerance. Chest 104:1176-1182
-
(1993)
Chest
, vol.104
, pp. 1176-1182
-
-
Parto, K.1
Svedström, E.2
Majurin, M.-L.3
Härkönen, R.4
Simell, O.5
-
35
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki A-E, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, et al (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1734
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, L.A.1
Lehesjoki, A.-E.2
Stone, N.E.3
Willour, V.L.4
Virtaneva, K.5
Miao, J.6
D'Amato, E.7
-
36
-
-
50549192830
-
Protein intolerance with deficient transport of basic amino acids: Another inborn error of metabolism
-
Perheentupa J, Visakorpi JK (1965) Protein intolerance with deficient transport of basic amino acids: another inborn error of metabolism. Lancet 2:813-816
-
(1965)
Lancet
, vol.2
, pp. 813-816
-
-
Perheentupa, J.1
Visakorpi, J.K.2
-
37
-
-
0018839583
-
Basolateral-membrane transport defect for lysinuric protein intolerance
-
Rajantie J, Simell O, Perheentupa J (1980) Basolateral-membrane transport defect for lysinuric protein intolerance. Lancet 7:1219-1221
-
(1980)
Lancet
, vol.7
, pp. 1219-1221
-
-
Rajantie, J.1
Simell, O.2
Perheentupa, J.3
-
38
-
-
0019464563
-
Basolateral transport defect in renal tubuli
-
_ (1981) Basolateral transport defect in renal tubuli. J Clin Invest 67:1078-1082
-
(1981)
J Clin Invest
, vol.67
, pp. 1078-1082
-
-
-
39
-
-
0026864788
-
Aberrant splicing of the CHM gene is a significant cause of choroideremia
-
Sankila E-M, Tolvanen R, van den Hurk J, Cremers F, de la Chapelle (1992) Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet 1:109-113
-
(1992)
Nat Genet
, vol.1
, pp. 109-113
-
-
Sankila, E.-M.1
Tolvanen, R.2
Van Den Hurk, J.3
Cremers, F.4
De La Chapelle5
-
40
-
-
0002115119
-
Lysinuric protein intolerance and other cationic aminoacidurias
-
Scriver CR, Beaudert AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Simell O (1995) Lysinuric protein intolerance and other cationic aminoacidurias. In: Scriver CR, Beaudert AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 3603-3627
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, pp. 3603-3627
-
-
Simell, O.1
-
41
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, et al (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587
-
(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
-
42
-
-
0025945418
-
Molecular cloning and characterization of a novel human gene homologous to the murine ecotropic retroviral receptor
-
Yoshimoto T, Yoshimoto E, Meruelo D (1991) Molecular cloning and characterization of a novel human gene homologous to the murine ecotropic retroviral receptor. Virology 185:10-17
-
(1991)
Virology
, vol.185
, pp. 10-17
-
-
Yoshimoto, T.1
Yoshimoto, E.2
Meruelo, D.3
|