-
1
-
-
0015436884
-
The Finnish population structure. a genetic and genealogical study
-
Nevanlinna, H.H. (1972) The Finnish population structure. A genetic and genealogical study. Hereditas, 71, 195-236.
-
(1972)
Hereditas
, vol.71
, pp. 195-236
-
-
Nevanlinna, H.H.1
-
2
-
-
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
-
3
-
-
0344228287
-
Messages from an isolate: Lessons from the Finnish gene pool
-
Peltonen, L., Pekkarinen, P. and Aaltonen, J. (1995) Messages from an isolate: lessons from the Finnish gene pool. J. Biol. Chem., 376, 679-704.
-
(1995)
J. Biol. Chem.
, vol.376
, pp. 679-704
-
-
Peltonen, L.1
Pekkarinen, P.2
Aaltonen, J.3
-
4
-
-
0029943833
-
The genetic relationship between the Finns and the Finnish Saami (Lapps): Analysis of nuclear DNA and mitochondrial mtDNA
-
Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L. and Savontaus, M.-L. (1996) The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mitochondrial mtDNA. Am. J. Hum. Genet., 58, 1309-1322.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1309-1322
-
-
Lahermo, P.1
Sajantila, A.2
Sistonen, P.3
Lukka, M.4
Aula, P.5
Peltonen, L.6
Savontaus, M.-L.7
-
5
-
-
0032514681
-
Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
-
de la Chapelle, A. and Wright, F.A. (1998) Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc. Natl Acad. Sci. USA, 95, 12416-12423.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 12416-12423
-
-
De La Chapelle, A.1
Wright, F.A.2
-
6
-
-
0031971898
-
Dual origins of Finns revealed by Y chromosome haplotype variation
-
Kittles, R.A., Perola, M., Peltonen, L., Bergen, A.W., Aragon, R.A., Virkkunen, M., Linnoila, M., Goldman, D. and Long, J.C. (1998) Dual origins of Finns revealed by Y chromosome haplotype variation. Am. J. Hum. Genet., 62, 1171-1179.
-
(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
-
7
-
-
0029859306
-
Paternal and maternal DNa linkages reveal a bottleneck in the founding of the Finnish population
-
Sajantila, A., Abdel-Halim, S., Savolainen, P., Bauer, K., Gierig, C. and Pääbo, S. (1996) Paternal and maternal DNA linkages reveal a bottleneck in the founding of the Finnish population. Proc. Natl Acad. Sci. USA, 93, 12035-12039.
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 12035-12039
-
-
Sajantila, A.1
Abdel-Halim, S.2
Savolainen, P.3
Bauer, K.4
Gierig, C.5
Pääbo, S.6
-
8
-
-
0015858194
-
Hereditary diseases in Finland: Rare flora in rare soul
-
Norio, R., Nevanlinna, H.R. and Perheentupa, J. (1973) Hereditary diseases in Finland: rare flora in rare soul. 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
-
9
-
-
0031409125
-
Molecular background of the Finnish disease heritage
-
Peltonen, L. (1997) Molecular background of the Finnish disease heritage. Ann. Med., 29, 553-556.
-
(1997)
Ann. Med.
, vol.29
, pp. 553-556
-
-
Peltonen, L.1
-
10
-
-
0032515555
-
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria
-
Fellman, V., Rapola, J., Pihko, H., Varilo, T. and Raivio, K.O. (1998) Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet, 351, 490-493.
-
(1998)
Lancet
, vol.351
, pp. 490-493
-
-
Fellman, V.1
Rapola, J.2
Pihko, H.3
Varilo, T.4
Raivio, K.O.5
-
11
-
-
0028237047
-
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8
-
Tahvanainen, E., Ranta, S., Hirvasniemi, A., Karila, E., Leisti, J., Sistonen, P., Weissenbach, J., Lehesjoki, A.E. and de la Chapelle, A. (1994) The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc. Natl Acad. Sci. USA. 91, 7267-7270.
-
(1994)
Proc. Natl Acad. Sci. USA.
, vol.91
, pp. 7267-7270
-
-
Tahvanainen, E.1
Ranta, S.2
Hirvasniemi, A.3
Karila, E.4
Leisti, J.5
Sistonen, P.6
Weissenbach, J.7
Lehesjoki, A.E.8
De La Chapelle, A.9
-
12
-
-
0030028560
-
The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population
-
Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L. and Järvelä, I. (1996) The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am. J. Hum. Genet., 58, 506-512.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 506-512
-
-
Varilo, T.1
Savukoski, M.2
Norio, R.3
Santavuori, P.4
Peltonen, L.5
Järvelä, I.6
-
13
-
-
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) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genet., 17, 399-403.
-
(1997)
Nature Genet.
, vol.17
, pp. 399-403
-
-
-
14
-
-
16944367194
-
Positional cloning of the APECED gene
-
Naganime, K., Peterson, P., Scott, H.S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K.J., Lalioti, M.D., Mullis, P.E., Antonarakis, S.E., Kawasaki, K., Asakawa, S., Ito, F. and Shimizu, N. (1997) Positional cloning of the APECED gene. Nature Genet., 17, 393-398.
-
(1997)
Nature Genet.
, vol.17
, pp. 393-398
-
-
Naganime, K.1
Peterson, P.2
Scott, H.S.3
Kudoh, J.4
Minoshima, S.5
Heino, M.6
Krohn, K.J.7
Lalioti, M.D.8
Mullis, P.E.9
Antonarakis, S.E.10
Kawasaki, K.11
Asakawa, S.12
Ito, F.13
Shimizu, N.14
-
15
-
-
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. and Peltonen, L. (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
Peltonen, L.8
-
16
-
-
0026864788
-
Aberrant splicing of the CHM gene is a significant cause of choroideremia
-
Sankila, E.M., Tolvanen, R., van den Hurk, J.A., Cremers, F.P. and de la Chapelle, A. (1992) Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nature Genet., 1, 109-113.
-
(1992)
Nature Genet.
, vol.1
, pp. 109-113
-
-
Sankila, E.M.1
Tolvanen, R.2
Van Den Hurk, J.A.3
Cremers, F.P.4
De La Chapelle, A.5
-
17
-
-
16144368521
-
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
-
Höglund, P., Haila, S., Socha, J., Tomaszewski, L., Saarialho-Kere, U., Karjalainen-Lindsberg, M.-L., Airola, K., Holmberg, C., de la Chapelle, A. and Kere, J. (1996) Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nature Genet., 14, 316-319.
-
(1996)
Nature 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
Holmberg, C.8
De La Chapelle, A.9
Kere, J.10
-
18
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein -nephrin - Is mutated in congenital nephrotic syndrome
-
Kestilä, M., Lenkkeri, U., Männikkö, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., Kashtan, C.E., Peltonen, L., Holmberg, C., Olsen, A. and Tryggvason, K. (1998) Positionally cloned gene for a novel glomerular protein -nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell, 1, 575-582.
-
(1998)
Mol. Cell
, vol.1
, pp. 575-582
-
-
Kestilä, M.1
Lenkkeri, U.2
Männikkö, M.3
Lamerdin, J.4
McCready, P.5
Putaala, H.6
Ruotsalainen, V.7
Morita, T.8
Nissinen, M.9
Herva, R.10
Kashtan, C.E.11
Peltonen, L.12
Holmberg, C.13
Olsen, A.14
Tryggvason, K.15
-
19
-
-
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, M.M., Clines, G., Reeve-Daly, M.P., Daly, M., Hamilton, B.A., Kusumi, K., Trivedi, B., Weaver, A. 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
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
-
20
-
-
0025647488
-
Mutation in gelsolin gene in Finnish hereditary amyloidosis
-
Levy, E., Haltia, M., Fernandez-Madrid, I., Koivunen, O., Ghiso, J., Prelli, F. and Frangione, B. (1990) Mutation in gelsolin gene in Finnish hereditary amyloidosis. J. Exp. Med., 172, 1865-1867.
-
(1990)
J. Exp. Med.
, vol.172
, pp. 1865-1867
-
-
Levy, E.1
Haltia, M.2
Fernandez-Madrid, I.3
Koivunen, O.4
Ghiso, J.5
Prelli, F.6
Frangione, B.7
-
21
-
-
0023785183
-
Human ornithine-δ-aminotransferase: CDNA cloning and analysis of structural gene
-
Mitchell, G., Looney, J., Brody, L., Steel, G., Suchanek, M., Engelhardt, J., Willard, H. and Valle, D. (1988) Human ornithine-δ-aminotransferase: cDNA cloning and analysis of structural gene. J. Biol. Chem., 263, 14288-14295.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 14288-14295
-
-
Mitchell, G.1
Looney, J.2
Brody, L.3
Steel, G.4
Suchanek, M.5
Engelhardt, J.6
Willard, H.7
Valle, D.8
-
22
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
Aittomäki, K., Lucena, J.L.D., Pakarinen, P., Sistonen, P., Tapaninen, J., Gromoll, J., Kaskikari, R., Sankila, E.-M., Lehväslaiho, H., Engel, A.R., Nieschlag, E., Huhtaniemi, I. and de la Chapelle, A. (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.L.D.2
Pakarinen, P.3
Sistonen, P.4
Tapaninen, J.5
Gromoll, J.6
Kaskikari, R.7
Sankila, E.-M.8
Lehväslaiho, H.9
Engel, A.R.10
Nieschlag, E.11
Huhtaniemi, I.12
De La Chapelle, A.13
-
23
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa, J., Hellsten, E., Verkruyse, L.A., Camp, L.A., Rapola, J., Santavuori, P., Hofmann, S.L. and Peltonen, L. (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
Peltonen, L.8
-
24
-
-
0033017645
-
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
-
Borsani, G., Bassi, M.T., Sperandeo, M.P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., Andria, G., Ballabio, A. and Sebastio, G. (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nature Genet., 21, 297-301.
-
(1999)
Nature Genet.
, vol.21
, pp. 297-301
-
-
Borsani, G.1
Bassi, M.T.2
Sperandeo, M.P.3
De Grandi, A.4
Buoninconti, A.5
Riboni, M.6
Manzoni, M.7
Incerti, B.8
Pepe, A.9
Andria, G.10
Ballabio, A.11
Sebastio, G.12
-
25
-
-
0344699322
-
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
-
Torrents, D., Mykkänen, J., Pineda, M., Feliubadaló, L., Estévez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., Huoponen, K., Reinikainen, A., Simell, O., Savontaus, M.-L., Aula, P. and Palacín, M. (1999) Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nature Genet., 21, 293-296.
-
(1999)
Nature Genet.
, vol.21
, pp. 293-296
-
-
Torrents, D.1
Mykkänen, J.2
Pineda, M.3
Feliubadaló, L.4
Estévez, R.5
De Cid, R.6
Sanjurjo, P.7
Zorzano, A.8
Nunes, V.9
Huoponen, K.10
Reinikainen, A.11
Simell, O.12
Savontaus, M.-L.13
Aula, P.14
Palacín, M.15
-
26
-
-
0026648330
-
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
-
Kure, S., Takayanagi, M., Narisawa, K., Tada, K. and 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
-
27
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPMI)
-
Pennacchio, L.A., Lehesjoki, A.-E., Stone, N.E., Willour, V.L., Virtaneva, K., Miao, J., D'Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., Warrington, J.A., Norio, R., de la Chapelle, A., Cox, D.R. and Myers, R.M. (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPMI). 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
Ramirez, L.8
Faham, M.9
Koskiniemi, M.10
Warrington, J.A.11
Norio, R.12
De La Chapelle, A.13
Cox, D.R.14
Myers, R.M.15
-
28
-
-
0030771360
-
Positional cloning of the gene associated with X-linked juvenile retinoschisis
-
Sauer, C.G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C.C., Gibson, A., Lorenz, B., Jurklies, B. and Weber, B.H.F. (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genet., 17, 164-170.
-
(1997)
Nature Genet.
, vol.17
, pp. 164-170
-
-
Sauer, C.G.1
Gehrig, A.2
Warneke-Wittstock, R.3
Marquardt, A.4
Ewing, C.C.5
Gibson, A.6
Lorenz, B.7
Jurklies, B.8
Weber, B.H.F.9
-
29
-
-
0031803649
-
CLN5, a novel gene encoding a putative transmembrane protein mutated in the Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL)
-
Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E.S. and Peltonen, L. (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in the Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL). Nature Genet., 19, 286-288.
-
(1998)
Nature Genet.
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmberg, V.3
Santavuori, P.4
Lander, E.S.5
Peltonen, L.6
-
30
-
-
0027503620
-
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis
-
Sulisalo, T., Sistonen, P., Hästbacka, J., Wadelius, C., Mäkitie, O., de la Chapelle, A. and Kaitila, I. (1993) Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nature Genet., 3, 338-341.
-
(1993)
Nature Genet.
, vol.3
, pp. 338-341
-
-
Sulisalo, T.1
Sistonen, P.2
Hästbacka, J.3
Wadelius, C.4
Mäkitie, O.5
De La Chapelle, A.6
Kaitila, I.7
-
31
-
-
0028305381
-
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis
-
Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P. and de la Chapelle, A. (1994) Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nature Genet., 7, 201-204.
-
(1994)
Nature Genet.
, vol.7
, pp. 201-204
-
-
Tahvanainen, E.1
Norio, R.2
Karila, E.3
Ranta, S.4
Weissenbach, J.5
Sistonen, P.6
De La Chapelle, A.7
-
32
-
-
1642586712
-
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
-
Järvelä, I., Enattah, N.S., Kokkonen, J., Varilo, T., Savilahti, E. and Peltonen, L. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am. J. Hum. Genet., 63, 1078-1085.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1078-1085
-
-
Järvelä, I.1
Enattah, N.S.2
Kokkonen, J.3
Varilo, T.4
Savilahti, E.5
Peltonen, L.6
-
33
-
-
0028920939
-
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis
-
Tahvanainen, E., Forsius, H., Karila, E., Ranta, S., Eerola, M., Weissenbach, J., Sistonen, P. and de la Chapelle, A. (1995) Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics, 26, 290-293.
-
(1995)
Genomics
, vol.26
, pp. 290-293
-
-
Tahvanainen, E.1
Forsius, H.2
Karila, E.3
Ranta, S.4
Eerola, M.5
Weissenbach, J.6
Sistonen, P.7
De La Chapelle, A.8
-
34
-
-
0032231332
-
Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37
-
Visapää, I., Fellman, V., Varilo, T., Palotie, A., Raivio, K. and Peltonen, L. (1998) Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. Am. J. Hum. Genet., 63, 1396-1403.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1396-1403
-
-
Visapää, I.1
Fellman, V.2
Varilo, T.3
Palotie, A.4
Raivio, K.5
Peltonen, L.6
-
35
-
-
0028949919
-
Random search for shared chromosomal regions: The assignment of a new hereditary ataxia locus
-
Nikali, K., Suomalainen, A., Terwilliger, J., Koskinen, T., Weissenbach, J. and Peltonen, L. (1995) Random search for shared chromosomal regions: the assignment of a new hereditary ataxia locus. Am. J. Hum. Genet., 56, 1088-1095.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
Terwilliger, J.3
Koskinen, T.4
Weissenbach, J.5
Peltonen, L.6
-
36
-
-
1642633543
-
Assignment of the disease locus for the lethal congenital contracture syndrome to a restricted region on chromosome 9q34 by genome scan using five affected individuals
-
Mäkelä-Bengs, P., Järvinen, N., Vuopala, K., Suomalainen, A., Ignatius, J.. Sipilä, M., Herva, R., Palotie, A. and Peltonen, L. (1998) Assignment of the disease locus for the lethal congenital contracture syndrome to a restricted region on chromosome 9q34 by genome scan using five affected individuals. Am. J. Hum. Genet., 63, 506-516.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 506-516
-
-
Mäkelä-Bengs, P.1
Järvinen, N.2
Vuopala, K.3
Suomalainen, A.4
Ignatius, J.5
Sipilä, M.6
Herva, R.7
Palotie, A.8
Peltonen, L.9
-
37
-
-
0028980029
-
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
-
Paavola, P., Salonen, R., Weissenbach, J. and Peltonen, L. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nature Genet., 11, 213-215.
-
(1995)
Nature Genet.
, vol.11
, pp. 213-215
-
-
Paavola, P.1
Salonen, R.2
Weissenbach, J.3
Peltonen, L.4
-
38
-
-
0030951029
-
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis
-
Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Petterson, C., Marchand, S., Faure, S., Sistonen, P., de la Chapelle, A. and Lehesjoki, A.-E. (1997) Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. Am. J. Hum. Genet., 60, 896-902.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 896-902
-
-
Avela, K.1
Lipsanen-Nyman, M.2
Perheentupa, J.3
Wallgren-Petterson, C.4
Marchand, S.5
Faure, S.6
Sistonen, P.7
De La Chapelle, A.8
Lehesjoki, A.-E.9
-
39
-
-
0033360965
-
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
-
Corman, B., Avela, K., Pihko, H., Santavuori, P., Talim, B., Topaloglu, H., de la Chapelle, A. and Lehesjoki, A.E. (1999) Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am. J. Hum. Genet., 64, 126-135.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 126-135
-
-
Corman, B.1
Avela, K.2
Pihko, H.3
Santavuori, P.4
Talim, B.5
Topaloglu, H.6
De La Chapelle, A.7
Lehesjoki, A.E.8
-
40
-
-
17344367028
-
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13
-
Pekkarinen, P., Hovatta, I., Hakola, P. et al. (1998) Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. Am. J. Hum. Genet., 62, 362-373.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 362-373
-
-
Pekkarinen, P.1
Hovatta, I.2
Hakola, P.3
-
41
-
-
0029101674
-
Selective intestinal malabsorbtion of vitamin B12 displays recessive Mendelian inheritance: Assignment of a locus chromosome 10 by linkage
-
Aminoff, M., Tahvanainen, E., Gräsbeck, R., Weissenbach, J., Broch, H. and de la Chapelle, A. (1995) Selective intestinal malabsorbtion of vitamin B12 displays recessive Mendelian inheritance: assignment of a locus chromosome 10 by linkage. Am. J. Hum. Genet., 57, 824-831.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 824-831
-
-
Aminoff, M.1
Tahvanainen, E.2
Gräsbeck, R.3
Weissenbach, J.4
Broch, H.5
De La Chapelle, A.6
-
42
-
-
0031979926
-
Assignment of the tibial muscular dystrophy locus to chromosome 2q31
-
Haravuori, H., Mäkelä-Bengs, P., Udd, B., Partanen, J., Pulkkinen, L., Somer, H. and Peltonen, L. (1998) Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am. J. Hum. Genet., 62, 620-626.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 620-626
-
-
Haravuori, H.1
Mäkelä-Bengs, P.2
Udd, B.3
Partanen, J.4
Pulkkinen, L.5
Somer, H.6
Peltonen, L.7
-
43
-
-
0028836898
-
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
-
Sankila, E.M., Pakarinen, L., Kääriäinen, H., Aittomäki, K., Karjalainen, S., Sistonen, P. and de la Chapelle, A. (1995) Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum. Mol. Genet., 4, 93-98.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 93-98
-
-
Sankila, E.M.1
Pakarinen, L.2
Kääriäinen, H.3
Aittomäki, K.4
Karjalainen, S.5
Sistonen, P.6
De La Chapelle, A.7
-
44
-
-
0032231917
-
A gene for Meckel syndrome maps to chromosome 11q13
-
Roume, J., Genin, E., Cormier-Daire, V., Ma, H.W., Mehaye, B., Attie, T., Razavi-Encha, F., Fallet-Bianco, C., Buenerd, A., Clerget-Darpoux, F., Munnich, A. and Le Merrer, M. (1998) A gene for Meckel syndrome maps to chromosome 11q13. Am. J. Hum. Genet., 63, 1095-1101.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1095-1101
-
-
Roume, J.1
Genin, E.2
Cormier-Daire, V.3
Ma, H.W.4
Mehaye, B.5
Attie, T.6
Razavi-Encha, F.7
Fallet-Bianco, C.8
Buenerd, A.9
Clerget-Darpoux, F.10
Munnich, A.11
Le Merrer, M.12
-
45
-
-
0026578477
-
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
-
Syvänen, A.-C., Ikonen, E., Manninen, T., Bengström, M., Söderlund, H., Aula, P. and Peltonen, L. (1992) Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics, 12, 590-595.
-
(1992)
Genomics
, vol.12
, pp. 590-595
-
-
Syvänen, A.-C.1
Ikonen, E.2
Manninen, T.3
Bengström, M.4
Söderlund, H.5
Aula, P.6
Peltonen, L.7
-
46
-
-
0029046250
-
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium
-
Höglund, P., Sistonen, P., Norio, R., Holmberg, C., Dimberg, A., Gustavson, K.H., de la Chapelle, A. and Kere, J. (1995) Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am. J. Hum. Genet., 57, 95-102.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 95-102
-
-
Höglund, P.1
Sistonen, P.2
Norio, R.3
Holmberg, C.4
Dimberg, A.5
Gustavson, K.H.6
De La Chapelle, A.7
Kere, J.8
-
47
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A. and Lander, E. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet., 2, 204-211.
-
(1992)
Nature 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
-
48
-
-
0026100469
-
Infantile form of neuronal ceroid lipofuscinosis (CNL1) maps to the short arm of chromosome 1
-
Järvelä, I., Schleutker, L., Haataja, L., Santavuori, P., Puhakka, L., Manninen, T., Palotie, A., Sandkuijl, L.A., Renlund, M., White, R., Aula, P. and Peltonen, L. (1991) Infantile form of neuronal ceroid lipofuscinosis (CNL1) maps to the short arm of chromosome 1. Genomics, 9, 170-173.
-
(1991)
Genomics
, vol.9
, pp. 170-173
-
-
Järvelä, I.1
Schleutker, L.2
Haataja, L.3
Santavuori, P.4
Puhakka, L.5
Manninen, T.6
Palotie, A.7
Sandkuijl, L.A.8
Renlund, M.9
White, R.10
Aula, P.11
Peltonen, L.12
-
49
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
-
Terwilliger, J.D. (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am. J. Hum. Genet., 56, 777-787.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 777-787
-
-
Terwilliger, J.D.1
-
50
-
-
0001641514
-
Mutations of bacteria from virus sensitivity to virus resistance
-
Luria, S.E. and Delbrück, M. (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics, 28, 491-511.
-
(1943)
Genetics
, vol.28
, pp. 491-511
-
-
Luria, S.E.1
Delbrück, M.2
-
51
-
-
0027236091
-
Localization of the EPMI 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. and de la Chapelle, A. (1993) Localization of the EPMI 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
-
52
-
-
0032921638
-
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey nanism on chromosome 17q22-q23
-
Paavola, P., Avela, K., Horelli-Kuitunen, N., Bärlund, M., Kallioniemi, A., Idänheimo, N., de la Chapelle, A., Palotie, A., Lehesjoki, A.-E. and Peltonen, L. (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey nanism on chromosome 17q22-q23. Genome Res., 9, 267-276.
-
(1999)
Genome Res.
, vol.9
, pp. 267-276
-
-
Paavola, P.1
Avela, K.2
Horelli-Kuitunen, N.3
Bärlund, M.4
Kallioniemi, A.5
Idänheimo, N.6
De La Chapelle, A.7
Palotie, A.8
Lehesjoki, A.-E.9
Peltonen, L.10
-
53
-
-
0032403494
-
Fine-scale mapping of a novel dementia gene, PLO-SL, by linkage disequilibrium
-
Pekkarinen, P., Kestilä, M., Paloneva, J., Terwilliger, J., Varilo, T., Järvi, O., Hakola, P. and Peltonen, L. (1998) Fine-scale mapping of a novel dementia gene, PLO-SL, by linkage disequilibrium. Genomics, 54, 307-315.
-
(1998)
Genomics
, vol.54
, pp. 307-315
-
-
Pekkarinen, P.1
Kestilä, M.2
Paloneva, J.3
Terwilliger, J.4
Varilo, T.5
Järvi, O.6
Hakola, P.7
Peltonen, L.8
-
54
-
-
0033529312
-
Nephrin is located at the slit diaphragm area of glomerular podocytes. Proc
-
Ruotsalainen, V., Ljungberg, P., Wartiovaara, J., Lenkkeri, U., Kestilä, M., Jalanko, H., Holmberg, C. and Tryggvason, K. (1999) Nephrin is located at the slit diaphragm area of glomerular podocytes. Proc. Natl Acad. Sci. USA, 96, 7962-7967.
-
(1999)
Natl Acad. Sci. USA
, vol.96
, pp. 7962-7967
-
-
Ruotsalainen, V.1
Ljungberg, P.2
Wartiovaara, J.3
Lenkkeri, U.4
Kestilä, M.5
Jalanko, H.6
Holmberg, C.7
Tryggvason, K.8
-
55
-
-
0032524288
-
Functional analysis of diastrophic dysplasia sulfate transporter; its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans
-
Satoh, H., Susaki, M., Shukunami, C., Iyama, K.-I., Negoro, T. and Hiraki, Y. (1998) Functional analysis of diastrophic dysplasia sulfate transporter; its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. J. Biol. Chem., 273, 12307-12315.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 12307-12315
-
-
Satoh, H.1
Susaki, M.2
Shukunami, C.3
Iyama, K.-I.4
Negoro, T.5
Hiraki, Y.6
-
56
-
-
0032506018
-
Impairing follicle-stimulating hormone (FSH) signaling in vivo: Targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance
-
Dierich, A., Sairam, M.R., Monaco, L., Fimia, G.M., Gansmuller, A., LeMeur, M. and Sassone-Corsi, P. (1998) Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc. Natl Acad. Sci. USA, 95, 13612-13617.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 13612-13617
-
-
Dierich, A.1
Sairam, M.R.2
Monaco, L.3
Fimia, G.M.4
Gansmuller, A.5
LeMeur, M.6
Sassone-Corsi, P.7
-
57
-
-
0038486459
-
Localization of the APECED protein in distinct nuclear structures
-
Björses, P., Pelto-Huikko, M., Kaukonen, J., Aaltonen, J., Peltonen, L. and Ulmanen, I. (1999) Localization of the APECED protein in distinct nuclear structures. Hum. Mol. Genet., 8, 259-266.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 259-266
-
-
Björses, P.1
Pelto-Huikko, M.2
Kaukonen, J.3
Aaltonen, J.4
Peltonen, L.5
Ulmanen, I.6
-
58
-
-
0027389271
-
Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum
-
Ikonen, E., Julkunen, I., Tollersrud, O.-K., Kalkkinen, N. and Peltonen, L. (1993) Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum. EMBO J., 12, 295-302.
-
(1993)
EMBO J.
, vol.12
, pp. 295-302
-
-
Ikonen, E.1
Julkunen, I.2
Tollersrud, O.-K.3
Kalkkinen, N.4
Peltonen, L.5
-
59
-
-
0028956744
-
Immediate interaction between the nascent subunits and two conserved amino acids Trp34 and Thr206 needed for the catalytic activity of aspartylglucosaminidase
-
Riikonen, A., Tikkanen, R., Jalanko, A. and Peltonen, L. (1995) Immediate interaction between the nascent subunits and two conserved amino acids Trp34 and Thr206 needed for the catalytic activity of aspartylglucosaminidase. J. Biol. Chem., 270, 4903-4907.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 4903-4907
-
-
Riikonen, A.1
Tikkanen, R.2
Jalanko, A.3
Peltonen, L.4
-
60
-
-
0029835573
-
Primary folding of aspartylglucosaminidase: Significance of disulfide bridges and evidence of early multimerization
-
Riikonen, A., Rouvinen, J., Tikkanen, R., Julkunen, I., Peltonen, L. and Jalanko, A. (1996) Primary folding of aspartylglucosaminidase: significance of disulfide bridges and evidence of early multimerization. J. Biol. Chem., 271, 21340-21344.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 21340-21344
-
-
Riikonen, A.1
Rouvinen, J.2
Tikkanen, R.3
Julkunen, I.4
Peltonen, L.5
Jalanko, A.6
-
61
-
-
0028786346
-
Three-dimensional structure of human lysosomal aspartylglucosaminidase
-
Oinonen, C., Tikkanen, R., Rouvinen, J. and Peltonen, L. (1995) Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nature Struct. Biol., 2, 1102-1107.
-
(1995)
Nature Struct. Biol.
, vol.2
, pp. 1102-1107
-
-
Oinonen, C.1
Tikkanen, R.2
Rouvinen, J.3
Peltonen, L.4
-
62
-
-
0029936212
-
Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: Implications for catalytic mechanism and autocatalytic activation
-
Tikkanen, R., Riikonen, A., Oinonen, C., Rouvinen, J. and Peltonen, L. (1996) Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: implications for catalytic mechanism and autocatalytic activation. EMBO J., 15, 2954-2960.
-
(1996)
EMBO J.
, vol.15
, pp. 2954-2960
-
-
Tikkanen, R.1
Riikonen, A.2
Oinonen, C.3
Rouvinen, J.4
Peltonen, L.5
-
63
-
-
0030780140
-
Several co-operational binding sites mediate the interaction of a lysosomal enzyme with the phosphotransferase
-
Tikkanen, R., Peltola, M., Oinonen, C., Rouvinen, J. and Peltonen, L. (1997) Several co-operational binding sites mediate the interaction of a lysosomal enzyme with the phosphotransferase. EMBO J., 16, 6684-6693.
-
(1997)
EMBO J.
, vol.16
, pp. 6684-6693
-
-
Tikkanen, R.1
Peltola, M.2
Oinonen, C.3
Rouvinen, J.4
Peltonen, L.5
-
64
-
-
0032566667
-
Activation and oligomerization of aspartylglucosaminidase
-
Saarela, J., Laine, M., Tikkanen, R., Oinonen, C., Jalanko, A., Rouvinen, J. and Peltonen, L. (1998) Activation and oligomerization of aspartylglucosaminidase. J. Biol. Chem., 273, 25320-25328.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 25320-25328
-
-
Saarela, J.1
Laine, M.2
Tikkanen, R.3
Oinonen, C.4
Jalanko, A.5
Rouvinen, J.6
Peltonen, L.7
-
65
-
-
6844252256
-
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients
-
Jalanko, A., Tenhunen, K., McKinney, C.E., LaMarca, M.E., Rapola, J., Autti, T., Joensuu, R., Manninen, T., Sipilä, I., Ginns, E. and Peltonen, L. (1998) Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum. Mol. Genet., 7, 265-272.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 265-272
-
-
Jalanko, A.1
Tenhunen, K.2
McKinney, C.E.3
LaMarca, M.E.4
Rapola, J.5
Autti, T.6
Joensuu, R.7
Manninen, T.8
Sipilä, I.9
Ginns, E.10
Peltonen, L.11
-
66
-
-
0029850423
-
A mouse model for the human lysosomal disease aspartylglucosaminuria
-
Kaartinen, V., Mononen, I., Voncken, J.-V., Noronkoski, T., Gonzalez-Comez, I., Heisterkamp, N. and Groffen, J. (1996) A mouse model for the human lysosomal disease aspartylglucosaminuria. Nature Med., 2, 1375-1378.
-
(1996)
Nature Med.
, vol.2
, pp. 1375-1378
-
-
Kaartinen, V.1
Mononen, I.2
Voncken, J.-V.3
Noronkoski, T.4
Gonzalez-Comez, I.5
Heisterkamp, N.6
Groffen, J.7
-
67
-
-
0031797006
-
Monitoring the CNS pathology in aspartylglucosaminuria mice
-
Tenhunen, K., Uusitalo, A., Autti, T., Joensuu, R., Kettunen, M., Kauppinen, R.A., Ikonen, S., LaMarca, M.E., Haltia, M., Ginns, E.I., Jalanko, A. and Peltonen, L. (1998) Monitoring the CNS pathology in aspartylglucosaminuria mice. J. Neuropathol. Exp. Neurol., 57, 1154-1163.
-
(1998)
J. Neuropathol. Exp. Neurol.
, vol.57
, pp. 1154-1163
-
-
Tenhunen, K.1
Uusitalo, A.2
Autti, T.3
Joensuu, R.4
Kettunen, M.5
Kauppinen, R.A.6
Ikonen, S.7
LaMarca, M.E.8
Haltia, M.9
Ginns, E.I.10
Jalanko, A.11
Peltonen, L.12
-
68
-
-
0032190248
-
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons
-
Kyttälä, A., Heinonen, O., Peltonen, L. and Jalanko, A. (1998) Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons. J. Neurosci., 18, 7750-7756.
-
(1998)
J. Neurosci.
, vol.18
, pp. 7750-7756
-
-
Kyttälä, A.1
Heinonen, O.2
Peltonen, L.3
Jalanko, A.4
-
69
-
-
0031788218
-
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and liver of aspartylglucosaminuria (AGU) mouse
-
Peltola, M., Kyttälä, A., Heinonen, O., Rapola, J., Paunio, T., Revah, F., Peltonen, L. and Jalanko, A. (1998) Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and liver of aspartylglucosaminuria (AGU) mouse. Gene Ther., 5, 1314-1321.
-
(1998)
Gene Ther.
, vol.5
, pp. 1314-1321
-
-
Peltola, M.1
Kyttälä, A.2
Heinonen, O.3
Rapola, J.4
Paunio, T.5
Revah, F.6
Peltonen, L.7
Jalanko, A.8
-
70
-
-
0032845933
-
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation
-
in press
-
Laine, M., Richter, J., Fahlman, C., Rapola, J., Renlund, M., Peltonen, L., Karlsson, S. and Jalanko, A. (1999) Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. Exp. Hematol., in press.
-
(1999)
Exp. Hematol.
-
-
Laine, M.1
Richter, J.2
Fahlman, C.3
Rapola, J.4
Renlund, M.5
Peltonen, L.6
Karlsson, S.7
Jalanko, A.8
-
71
-
-
0029843717
-
Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis
-
Hellsten, E., Vesa, J., Olkkonen, V.M., Jalanko, A. and Peltonen, L. (1996) Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J., 15, 5240-5245.
-
(1996)
EMBO J.
, vol.15
, pp. 5240-5245
-
-
Hellsten, E.1
Vesa, J.2
Olkkonen, V.M.3
Jalanko, A.4
Peltonen, L.5
-
72
-
-
0030009044
-
Lysosomal targeting of palmitoyl-protein thioesterase
-
Verkruyse, L.A. and Hofmann, S.L. (1996) Lysosomal targeting of palmitoyl-protein thioesterase. J. Biol. Chem., 271, 15831-15836.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 15831-15836
-
-
Verkruyse, L.A.1
Hofmann, S.L.2
-
73
-
-
0031985964
-
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
-
Järvelä, I., Sainio, M., Rantamäki, T., Olkkonen, V.M., Carpen, O., Peltonen, L. and Jalanko, A. (1998) Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum. Mol. Genet., 7, 85-90.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 85-90
-
-
Järvelä, I.1
Sainio, M.2
Rantamäki, T.3
Olkkonen, V.M.4
Carpen, O.5
Peltonen, L.6
Jalanko, A.7
-
74
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat, D.E., Donnelly, R.J., Lackland, H., Liu, C-G., Sohar, I., Pullarkat, R. and Lobel, P. (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science, 277, 1802-1805.
-
(1997)
Science
, vol.277
, pp. 1802-1805
-
-
Sleat, D.E.1
Donnelly, R.J.2
Lackland, H.3
Liu, C.-G.4
Sohar, I.5
Pullarkat, R.6
Lobel, P.7
-
75
-
-
16944365407
-
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of Progressive Myoclonus Epilepsy (EPM1)
-
Lalioti, M.D. et al. (1997) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of Progressive Myoclonus Epilepsy (EPM1). Am. J. Hum. Genet., 60, 342-351.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 342-351
-
-
Lalioti, M.D.1
-
76
-
-
17744419667
-
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
-
Virtaneva, K., D'Amato, E., Miao, J., Koskiniemi, M., Norio, R., Avanzini, G., Franceschetti, S., Michelucci, R., Tassinari, C.A., Omer, S., Pennacchio, L.A., Myers, R.M., Dieguez-Lucena, J.L., Krahe, R., de la Chapelle, A. and Lehesjoki, A.-E. (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nature Genet., 15, 393-396.
-
(1997)
Nature Genet.
, vol.15
, pp. 393-396
-
-
Virtaneva, K.1
D'Amato, E.2
Miao, J.3
Koskiniemi, M.4
Norio, R.5
Avanzini, G.6
Franceschetti, S.7
Michelucci, R.8
Tassinari, C.A.9
Omer, S.10
Pennacchio, L.A.11
Myers, R.M.12
Dieguez-Lucena, J.L.13
Krahe, R.14
De La Chapelle, A.15
Lehesjoki, A.-E.16
-
77
-
-
0031764610
-
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
-
Pennacchio, L.A., Bouley, D.M., Higgins, K.M., Scott, M.P., Noebels, J.L. and Myers, R.M. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nature Genet., 20, 251-258.
-
(1998)
Nature Genet.
, vol.20
, pp. 251-258
-
-
Pennacchio, L.A.1
Bouley, D.M.2
Higgins, K.M.3
Scott, M.P.4
Noebels, J.L.5
Myers, R.M.6
-
78
-
-
0022407298
-
Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver
-
Ritonja, A., Machleidt, W. and Barrett, A.J. (1985) Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver. Biochem. Biophys. Res. Commun., 131, 1187-1192.
-
(1985)
Biochem. Biophys. Res. Commun.
, vol.131
, pp. 1187-1192
-
-
Ritonja, A.1
Machleidt, W.2
Barrett, A.J.3
-
79
-
-
0347422215
-
Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin
-
Barrett, A.J., Fritz, H., Grubb, A., Isemura, S., Järvinen, M., Katunuma, N., Machleidt, W., Muller-Esterl, W., Sasaki, M. and Turk, V. (1986) Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin. Biochem. J., 236, 312.
-
(1986)
Biochem. J.
, vol.236
, pp. 312
-
-
Barrett, A.J.1
Fritz, H.2
Grubb, A.3
Isemura, S.4
Järvinen, M.5
Katunuma, N.6
Machleidt, W.7
Muller-Esterl, W.8
Sasaki, M.9
Turk, V.10
-
80
-
-
0025064847
-
Cloning of a gene that is rearranged in patients with choroideraemia
-
Cremers, F.P.M., van de Pol, D.J.R., van Kerkhoff, L.P.M., Wieringa, B. and Ropers, H.-H. (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature, 347, 674-677.
-
(1990)
Nature
, vol.347
, pp. 674-677
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Van Kerkhoff, L.P.M.3
Wieringa, B.4
Ropers, H.-H.5
-
81
-
-
0026800719
-
Purification of component a of Rab geranyl-geranyl-transferase: Possible identity with choroideremia gene product
-
Seabra, M.C., Brown, M.S., Slaughter, C.A., Südhof, T.C. and Goldstein, J.L. (1992) Purification of component A of Rab geranyl-geranyl-transferase: possible identity with choroideremia gene product. Cell, 70, 1049-1057.
-
(1992)
Cell
, vol.70
, pp. 1049-1057
-
-
Seabra, M.C.1
Brown, M.S.2
Slaughter, C.A.3
Südhof, T.C.4
Goldstein, J.L.5
-
82
-
-
0026629308
-
Rab geranylgeranyl transferase: A multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or CysCys
-
Seabra, M.C., Goldstein, J.L., Südhof, T.C. and Brown, M.S. (1992) Rab geranylgeranyl transferase: a multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or CysCys. J. Biol. Chem., 267, 14497-14503.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 14497-14503
-
-
Seabra, M.C.1
Goldstein, J.L.2
Südhof, T.C.3
Brown, M.S.4
-
83
-
-
0027339162
-
Retinal degeneration in choroideremia: Deficiency of Rab geranylgeranyl transferase
-
Seabra, M.C., Brown, M.S. and Goldstein, J.L. (1993) Retinal degeneration in choroideremia: deficiency of Rab geranylgeranyl transferase. Science, 259, 377-381.
-
(1993)
Science
, vol.259
, pp. 377-381
-
-
Seabra, M.C.1
Brown, M.S.2
Goldstein, J.L.3
-
84
-
-
0027300621
-
CDNa cloning of component a of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
-
Andres, D.A., Seabra, M.C., Brown, M.S., Amstrong, S.A., Smeland, T.E., Cremers, F.P. and Goldstein, J.L. (1993) cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell, 73, 1091-1099.
-
(1993)
Cell
, vol.73
, pp. 1091-1099
-
-
Andres, D.A.1
Seabra, M.C.2
Brown, M.S.3
Amstrong, S.A.4
Smeland, T.E.5
Cremers, F.P.6
Goldstein, J.L.7
-
85
-
-
0014640130
-
Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. a previously unrecognized heritable syndrome
-
Meretoja, J. (1969) Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann. Clin Res., 1, 314-324.
-
(1969)
Ann. Clin Res.
, vol.1
, pp. 314-324
-
-
Meretoja, J.1
-
86
-
-
0025349996
-
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein
-
Haltia, M., Prelli, F., Ghiso, J., Kiuru, S., Somer, H., Palo, J. and Frangione, B. (1990) Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. Biochem. Biophys. Res. Commun., 167, 927-932.
-
(1990)
Biochem. Biophys. Res. Commun.
, vol.167
, pp. 927-932
-
-
Haltia, M.1
Prelli, F.2
Ghiso, J.3
Kiuru, S.4
Somer, H.5
Palo, J.6
Frangione, B.7
-
87
-
-
0026936594
-
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
-
de la Chapelle, A., Tolvanen, R., Boysen, G., Santavy, J., Bleeker-Wagemakers, L., Maury, C.P.J. and Kere, J. (1992) Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nature Genet., 2, 157-160.
-
(1992)
Nature Genet.
, vol.2
, pp. 157-160
-
-
De La Chapelle, A.1
Tolvanen, R.2
Boysen, G.3
Santavy, J.4
Bleeker-Wagemakers, L.5
Maury, C.P.J.6
Kere, J.7
-
88
-
-
0023949282
-
Localization of gelsolin proximal to ABL on chromosome 9
-
Kwiatkowski, D.J., Westbrook, C.A., Bruns, G.A.P. and Morton, C.C. (1988) Localization of gelsolin proximal to ABL on chromosome 9. Am. J. Hum. Genet., 42, 565-572.
-
(1988)
Am. J. Hum. Genet.
, vol.42
, pp. 565-572
-
-
Kwiatkowski, D.J.1
Westbrook, C.A.2
Bruns, G.A.P.3
Morton, C.C.4
-
89
-
-
0028567731
-
Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: In vitro expression reveals an abnormal gelsolin fragment
-
Paunio, T., Kangas, H., Kalkkinen, N., Haltia, M., Palo, J. and Peltonen, L. (1994) Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum. Mol. Genet., 3, 2223-2229.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2223-2229
-
-
Paunio, T.1
Kangas, H.2
Kalkkinen, N.3
Haltia, M.4
Palo, J.5
Peltonen, L.6
-
90
-
-
0026588330
-
Solid-phase minisequencing test reveals Asp187→Asn (G654→A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis
-
Paunio, T., Kiuru, S., Hongell, V., Mustonen, E., Syvänen, A.-C., Bengström, M., Palo, J. and Peltonen, L. (1992) Solid-phase minisequencing test reveals Asp187→Asn (G654→A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. Genomics, 13, 237-239.
-
(1992)
Genomics
, vol.13
, pp. 237-239
-
-
Paunio, T.1
Kiuru, S.2
Hongell, V.3
Mustonen, E.4
Syvänen, A.-C.5
Bengström, M.6
Palo, J.7
Peltonen, L.8
-
91
-
-
0032568847
-
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis
-
Paunio, T., Kangas, H., Heinonen, O., Buc-Caron, M.-H., Robert, J.J., Kaasinen, S., Julkunen, I., Mallet, J. and Peltonen, L. (1998) Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis. J. Biol. Chem., 273, 16319-16324.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 16319-16324
-
-
Paunio, T.1
Kangas, H.2
Heinonen, O.3
Buc-Caron, M.-H.4
Robert, J.J.5
Kaasinen, S.6
Julkunen, I.7
Mallet, J.8
Peltonen, L.9
-
92
-
-
0014046117
-
Main features in the congenital nephrotic syndrome
-
Hallman, N., Norio, R. and Kouvalainen, K. (1967) Main features in the congenital nephrotic syndrome. Acta Paediat. Scand., 172 (suppl.), 75-77.
-
(1967)
Acta Paediat. Scand.
, vol.172
, Issue.SUPPL.
, pp. 75-77
-
-
Hallman, N.1
Norio, R.2
Kouvalainen, K.3
-
93
-
-
0001480362
-
Congenital nephrotic syndrome
-
Barratt, T., Avner, E. and Harmon, W. (eds), Lippincot William and Wilkins, Baltimore, MD
-
Holmberg, C., Jalanko, H., Tryggvason, K. and Rapola, J. (1999) Congenital nephrotic syndrome. In Barratt, T., Avner, E. and Harmon, W. (eds), Pediatric Nephrology, 4th Edn. Lippincot William and Wilkins, Baltimore, MD, pp. 765-778.
-
(1999)
Pediatric Nephrology, 4th Edn.
, pp. 765-778
-
-
Holmberg, C.1
Jalanko, H.2
Tryggvason, K.3
Rapola, J.4
-
94
-
-
0032858507
-
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
-
in press
-
Hästbacka, J., Kerrebrock, A., Mokkala, K., Clines, G., Lovett, M., Kaitila, I., de la Chapelle, A. and Lander, E.S. (1999) Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur. J. Hum. Genet., in press.
-
(1999)
Eur. J. Hum. Genet.
-
-
Hästbacka, J.1
Kerrebrock, A.2
Mokkala, K.3
Clines, G.4
Lovett, M.5
Kaitila, I.6
De La Chapelle, A.7
Lander, E.S.8
-
95
-
-
0028329869
-
The genetics of XX gonadal dysgenesis
-
Aittomäki, K. (1994) The genetics of XX gonadal dysgenesis. Am. J. Hum. Genet., 54, 844-851.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 844-851
-
-
Aittomäki, K.1
-
96
-
-
0031457992
-
The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology, and pathophysiology
-
Simoni, M., Gromoll, J. and Nieschlag, E. (1997) The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocrine Rev., 18, 739-773.
-
(1997)
Endocrine Rev.
, vol.18
, pp. 739-773
-
-
Simoni, M.1
Gromoll, J.2
Nieschlag, E.3
-
97
-
-
0031758986
-
Gonadotropin receptors and the control of gonadal steroidogenesis: Physiology and pathology
-
Mishari, M., Beau, I., Meduri, G., Bouvattier, C., Atger, M., Loosfelt, H., Ghinea, N., Hai, M.V., Bougneres, P.F. and Milgrom, E. (1998) Gonadotropin receptors and the control of gonadal steroidogenesis: physiology and pathology. Baillieres Clin. Endocrinol. Metab., 12, 35-66.
-
(1998)
Baillieres Clin. Endocrinol. Metab.
, vol.12
, pp. 35-66
-
-
Mishari, M.1
Beau, I.2
Meduri, G.3
Bouvattier, C.4
Atger, M.5
Loosfelt, H.6
Ghinea, N.7
Hai, M.V.8
Bougneres, P.F.9
Milgrom, E.10
-
98
-
-
1842376911
-
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility
-
Tapanainen, J.S., Aittomäki, K., Min, J., Vaskivuo, T. and Huhtaniemi, I.T. (1997) Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nature Genet., 15, 205-206.
-
(1997)
Nature Genet.
, vol.15
, pp. 205-206
-
-
Tapanainen, J.S.1
Aittomäki, K.2
Min, J.3
Vaskivuo, T.4
Huhtaniemi, I.T.5
-
99
-
-
0032127876
-
AIRE-1, involved in the polyglandular autoimmune syndrome APECED, contains the Sand domain and is a probable DNA-binding transcription factor
-
Gibson, T.J., Ramu, C., Gemund, C. and Aasland, R. (1998) AIRE-1, involved in the polyglandular autoimmune syndrome APECED, contains the SAND domain and is a probable DNA-binding transcription factor. Trends Biochem. Sci., 23, 242-244.
-
(1998)
Trends Biochem. Sci.
, vol.23
, pp. 242-244
-
-
Gibson, T.J.1
Ramu, C.2
Gemund, C.3
Aasland, R.4
-
100
-
-
0032920219
-
Genetic disorders of membrane transport - III. Congenital chloride diarrhea
-
Kere, J., Lohi, H. and Höglund, P. (1999) Genetic disorders of membrane transport - III. Congenital chloride diarrhea. Am. J. Physiol. Gastrointest. Liver Physiol., 39G, C7-C13.
-
(1999)
Am. J. Physiol. Gastrointest. Liver Physiol.
, vol.39 G
-
-
Kere, J.1
Lohi, H.2
Höglund, P.3
-
101
-
-
0032945504
-
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland
-
Huopaniemi, L., Rantala, A., Forsius, H., Somer, M., de la Chapelle, A. and Alitalo, T. (1999) Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. Eur. J. Hum. Genet., 7, 368-376.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 368-376
-
-
Huopaniemi, L.1
Rantala, A.2
Forsius, H.3
Somer, M.4
De La Chapelle, A.5
Alitalo, T.6
-
102
-
-
0032924111
-
AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: Altered sub-cellular distribution of mutants lacking the PHD zinc finger
-
Rinderle, C., Christensen, H.M., Schweiger, S., Lehrach, H. and Yaspo, M.L. (1999) AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc finger. Hum. Mol. Genet., 8, 277-290.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 277-290
-
-
Rinderle, C.1
Christensen, H.M.2
Schweiger, S.3
Lehrach, H.4
Yaspo, M.L.5
-
103
-
-
24544461815
-
-
in press
-
Visapää, I., Salonen, R., Varilo, T., Paavola, P. and Peltonen, L. (1999) Am. J. Hum. Genet., in press.
-
(1999)
Am. J. Hum. Genet.
-
-
Visapää, I.1
Salonen, R.2
Varilo, T.3
Paavola, P.4
Peltonen, L.5
|