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Results: 26-50/54
Authors:
Aktan-Collan, K
Mecklin, JP
de la Chapelle, A
Peltomaki, P
Uutela, A
Kaariainen, H
Citation: K. Aktan-collan et al., Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer, J MED GENET, 37(2), 2000, pp. 108-113
Authors:
Maury, CPJ
Liljestrom, M
Boysen, G
Tornroth, T
de la Chapelle, A
Nurmiaho-Lassila, EL
Citation: Cpj. Maury et al., Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type), J CLIN PATH, 53(2), 2000, pp. 95-99
Authors:
Aktan-Collan, K
Mecklin, JP
Jarvinen, H
Nystrom-Lahti, M
Peltomaki, P
Soderling, I
Uutela, A
de la Chapelle, A
Kaariainen, H
Citation: K. Aktan-collan et al., Predictive genetic testing for hereditary non-polyposis colorectal cancer:Uptake and long-term satisfaction, INT J CANC, 89(1), 2000, pp. 44-50
Authors:
Jarvinen, HJ
Aarnio, M
Mustonen, H
Aktan-Collan, K
Aaltonen, LA
Peltomaki, P
de la Chapelle, A
Mecklin, JP
Citation: Hj. Jarvinen et al., Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer, GASTROENTY, 118(5), 2000, pp. 829-834
Authors:
Kristiansen, M
Aminoff, M
Jacobsen, C
de la Chapelle, A
Krahe, R
Verroust, PJ
Moestrup, SK
Citation: M. Kristiansen et al., Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B-12 by cubilin, BLOOD, 96(2), 2000, pp. 405-409
Authors:
Peltomaki, P
de la Chapelle, A
Kuismanen, SA
Holmberg, MT
Salovaara, R
Citation: P. Peltomaki et al., Genetic and epigenetic modification of MLH1 - Reply, AM J PATH, 157(3), 2000, pp. 1052-1053
Authors:
Kuismanen, SA
Holmberg, MT
Salovaara, R
de la Chapelle, A
Peltomaki, P
Citation: Sa. Kuismanen et al., Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers, AM J PATH, 156(5), 2000, pp. 1773-1779
Authors:
Sarraf, P
Mueller, E
Smith, WM
Wright, HM
Kum, JB
Aaltonen, LA
de la Chapelle, A
Spiegelman, BM
Eng, C
Citation: P. Sarraf et al., Loss-of-function mutations in PPAR gamma associated with human colon cancer, MOL CELL, 3(6), 1999, pp. 799-804
Authors:
Deere, M
Dieguez, JL
Yoon, SJK
Hewett-Emmett, D
de la Chapelle, A
Hecht, JT
Citation: M. Deere et al., Genomic characterization of human DSPG3, GENOME RES, 9(5), 1999, pp. 449-456
Authors:
Paavola, P
Avela, K
Horelli-Kuitunen, N
Barlund, M
Kallioniemi, A
Idanheimo, N
Kyttala, M
de la Chapelle, A
Palotie, A
Lehesjoki, AE
Peltonen, L
Citation: P. Paavola et al., High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23, GENOME RES, 9(3), 1999, pp. 267-276
Authors:
Kozyraki, R
Fyfe, J
Kristiansen, M
Gerdes, C
Jacobsen, C
Cui, SY
Christensen, EI
Aminoff, M
de la Chapelle, A
Krahe, R
Verroust, PJ
Moestrup, SK
Citation: R. Kozyraki et al., The intrinsic factor-vitamin B-12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein, NAT MED, 5(6), 1999, pp. 656-661
Authors:
Ranta, S
Zhang, YH
Ross, B
Lonka, L
Takkunen, E
Messer, A
Sharp, J
Wheeler, R
Kusumi, K
Mole, S
Liu, WC
Soares, MB
Bonaldo, MD
Hirvasniemi, A
de la Chapelle, A
Gilliam, TC
Lehesjoki, AE
Citation: S. Ranta et al., The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8, NAT GENET, 23(2), 1999, pp. 233-236
Authors:
Aminoff, M
Carter, JE
Chadwick, RB
Johnson, C
Grasbeck, R
Abdelaal, MA
Broch, H
Jenner, LB
Verroust, PJ
Moestrup, SK
de la Chapelle, A
Krahe, R
Citation: M. Aminoff et al., Mutations in CUBN, encoding the intrinsic factor-vitamin B-12 receptor, cubilin, cause hereditary megaloblastic anaemia 1, NAT GENET, 21(3), 1999, pp. 309-313
Authors:
Nystrom-Lahti, M
Holmberg, M
Fidalgo, P
Salovaara, R
de la Chapelle, A
Jiricny, J
Peltomaki, P
Citation: M. Nystrom-lahti et al., Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds, GENE CHROM, 26(4), 1999, pp. 372-375
Authors:
Hastbacka, J
Kerrebrock, A
Mokkala, K
Clines, G
Lovett, M
Kaitila, I
de la Chapelle, A
Lander, ES
Citation: J. Hastbacka et al., Identification of the Finnish founder mutation for diastrophic dysplasia (DTD), EUR J HUM G, 7(6), 1999, pp. 664-670
Authors:
de la Chapelle, A
Citation: A. De La Chapelle, Testing tumors for microsatellite instability, EUR J HUM G, 7(4), 1999, pp. 407-408
Authors:
Huopaniemi, L
Rantala, A
Forsius, H
Somer, M
de la Chapelle, A
Alitalo, T
Citation: L. Huopaniemi et al., Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland, EUR J HUM G, 7(3), 1999, pp. 368-376
Authors:
Wallgren-Pettersson, C
Pelin, K
Hilpela, P
Donner, K
Porfirio, B
Graziano, C
Swoboda, KJ
Fardeau, M
Urtizberea, JA
Muntoni, F
Sewry, C
Dubowitz, V
Iannaccone, S
Minetti, C
Pedemonte, M
Seri, M
Cusano, R
Lammens, M
Castagna-Sloane, A
Beggs, AH
Laing, NG
de la Chapelle, A
Citation: C. Wallgren-pettersson et al., Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy, NEUROMUSC D, 9(8), 1999, pp. 564-572
Authors:
Pelin, K
Hilpela, P
Donner, K
Sewry, C
Akkari, PA
Wilton, SD
Wattanasirichaigoon, D
Bang, ML
Centner, T
Hanefeld, F
Odent, S
Fardeau, M
Urtizberea, JA
Muntoni, F
Dubowitz, V
Beggs, AH
Laing, NG
Labeit, S
de la Chapelle, A
Wallgren-Pettersson, C
Citation: K. Pelin et al., Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy, P NAS US, 96(5), 1999, pp. 2305-2310
Authors:
Kuismanen, SA
Holmberg, MT
Salovaara, R
Schweizer, P
Aaltonen, LA
de la Chapelle, A
Nystrom-Lahti, M
Peltomaki, P
Citation: Sa. Kuismanen et al., Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers, P NAS US, 96(22), 1999, pp. 12661-12666
Authors:
Lynch, HT
de la Chapelle, A
Citation: Ht. Lynch et A. De La Chapelle, Genetic susceptibility to non-polyposis colorectal cancer, J MED GENET, 36(11), 1999, pp. 801-818
Authors:
Loukola, A
de la Chapelle, A
Aaltonen, LA
Citation: A. Loukola et al., Strategies for screening for hereditary non-polyposis colorectal cancer, J MED GENET, 36(11), 1999, pp. 819-822
Authors:
Aarnio, M
Sankila, R
Pukkala, E
Salovaara, R
Aaltonen, LA
de la Chapelle, A
Peltomaki, P
Mecklin, JP
Jarvinen, HJ
Citation: M. Aarnio et al., Cancer risk in mutation carriers of DNA-mismatch-repair genes, INT J CANC, 81(2), 1999, pp. 214-218
Authors:
Prior, TW
Chadwick, RB
Papp, AC
Arcot, AN
Isa, AM
Pearl, DK
Stemmermann, G
Percesepe, A
Loukola, A
Aaltonen, LA
de la Chapelle, A
Citation: Tw. Prior et al., The I1307K polymorphism of the APC gene in colorectal cancer, GASTROENTY, 116(1), 1999, pp. 58-63
Authors:
Watowich, SS
Xie, XL
Klingmuller, U
Kere, J
Lindlof, M
Berglund, S
de la Chapelle, A
Citation: Ss. Watowich et al., Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state, BLOOD, 94(7), 1999, pp. 2530-2532