Results: 1-25 | 26-50 | 51-54
Results: 1-25/54

Authors: Steele-Perkins, G Fang, W Yang, XH Van Gele, M Carling, T Gu, J Buyse, IM Fletcher, JA Liu, JS Bronson, R Chadwick, RB de la Chapelle, A Zhang, XK Speleman, F Huang, S
Citation: G. Steele-perkins et al., Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily, GENE DEV, 15(17), 2001, pp. 2250-2262

Authors: Mailman, MD Hemingway, T Darsey, RL Glasure, CE Huang, Y Chadwick, RB Heinz, JW Papp, AC Snyder, PJ Sedra, MS Schafer, RW Abuelo, DN Reich, EW Theil, KS Burghes, AHM de la Chapelle, A Prior, TW
Citation: Md. Mailman et al., Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome, HUM GENET, 108(2), 2001, pp. 109-115

Authors: Ridanpaa, M van Eenennaam, H Pelin, K Chadwick, R Johnson, C Yuan, B vanVenrooij, W Pruijn, G Salmela, R Rockas, S Makitie, O Kaitila, I de la Chapelle, A
Citation: M. Ridanpaa et al., Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia, CELL, 104(2), 2001, pp. 195-203

Authors: Eng, C Hampel, H de la Chapelle, A
Citation: C. Eng et al., Genetic testing for cancer predisposition, ANN R MED, 52, 2001, pp. 371-400

Authors: Burghes, AHM Vaessin, HEF de la Chapelle, A
Citation: Ahm. Burghes et al., Genetics - The land between Mendelian and multifactorial inheritance, SCIENCE, 293(5538), 2001, pp. 2213-2214

Authors: Virtaneva, K Wright, FA Tanner, SM Yuan, B Lemon, WJ Caligiuri, MA Bloomfield, CD de la Chapelle, A Krahe, R
Citation: K. Virtaneva et al., Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics, P NAS US, 98(3), 2001, pp. 1124-1129

Authors: Nykjaer, A Fyfe, JC Kozyraki, R Leheste, JR Jacobsen, C Nielsen, MS Verroust, PJ Aminoff, M de la Chapelle, A Moestrup, SK Ray, R Gliemann, J Willnow, TE Christensen, EI
Citation: A. Nykjaer et al., Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D-3, P NAS US, 98(24), 2001, pp. 13895-13900

Authors: Tanner, SM Austin, JL Leone, G Rush, LJ Plass, C Heinonen, K Mrozek, K Sill, H Knuutila, S Kolitz, JE Archer, KJ Caligiuri, MA Bloomfield, CD de la Chapelle, A
Citation: Sm. Tanner et al., BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia, P NAS US, 98(24), 2001, pp. 13901-13906

Authors: Nakagawa, H Chadwick, RB Peltomaki, P Plass, C Nakamura, Y de la Chapelle, A
Citation: H. Nakagawa et al., Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites incolorectal cancer, P NAS US, 98(2), 2001, pp. 591-596

Authors: Chadwick, RB Pyatt, RE Niemann, TH Richards, SK Johnson, CK Stevens, MW Meek, JE Hampel, H Prior, TW de la Chapelle, A
Citation: Rb. Chadwick et al., Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma, J MED GENET, 38(7), 2001, pp. 461-466

Authors: Nakagawa, H Nuovo, GJ Zervos, EE Martin, EW Salovaara, R Aaltonen, LA de la Chapelle, A
Citation: H. Nakagawa et al., Age-related hypermethylation of the 5 ' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development, CANCER RES, 61(19), 2001, pp. 6991-6995

Authors: Joensuu, T Hamalainen, R Yuan, B Johnson, C Tegelberg, S Gasparini, P Zelante, L Pirvola, U Pakarinen, L Lehesjoki, AE de la Chapelle, A Sankila, EM
Citation: T. Joensuu et al., Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3, AM J HU GEN, 69(4), 2001, pp. 673-684

Authors: Elsas, LJ Ljungqvist, A Ferguson-Smith, MA Simpson, JL Genel, M Carlson, AS Ferris, E de la Chapelle, A Ehrhardt, AA
Citation: Lj. Elsas et al., Gender verification of female athletes, GENET MED, 2(4), 2000, pp. 249-254

Authors: Avela, K Lipsanen-Nyman, M Idanheimo, N Seemanova, E Rosengren, S Makela, TP Perheentupa, J de la Chapelle, A Lehesjoki, AE
Citation: K. Avela et al., Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism, NAT GENET, 25(3), 2000, pp. 298-301

Authors: Pellegata, NS Dieguez-Lucena, JL Joensuu, T Lau, S Montgomery, KT Krahe, R Kivela, T Kucherlapati, R Forsius, H de la Chapelle, A
Citation: Ns. Pellegata et al., Mutations in KERA, encoding keratocan, cause cornea plana, NAT GENET, 25(1), 2000, pp. 91-95

Authors: Ranta, S Zhang, YH Ross, B Takkunen, E Hirvasniemi, A de la Chapelle, A Gilliam, TC Lehesjoki, AE
Citation: S. Ranta et al., Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation, EUR J HUM G, 8(5), 2000, pp. 381-384

Authors: Joensuu, T Hamalainen, R Lehesjoki, AE de la Chapelle, A Sankila, EM
Citation: T. Joensuu et al., A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q, GENOMICS, 63(3), 2000, pp. 409-416

Authors: Salovaara,"de la Chapelle, A Aaltonen, LA
Citation: A. Salovaara,"de La Chapelle et La. Aaltonen, Population-based molecular detection of hereditary nonpolyposis colorectalcancer (vol 18, pg 2193, 2000), J CL ONCOL, 18(19), 2000, pp. 3456-3456

Authors: Salovaara, R Loukola, A Kristo, P Kaariainen, H Ahtola, H Eskelinen, M Harkonen, N Julkunen, R Kangas, E Ojala, S Tulikoura, J Valkamo, E Jarvinen, H Mecklin, JP Aaltonen, LA de la Chapelle, A
Citation: R. Salovaara et al., Population-based molecular detection of hereditary nonpolyposis colorectalcancer, J CL ONCOL, 18(11), 2000, pp. 2193-2200

Authors: Moritz, F de la Chapelle, A Bauer, F Leroy, JP Goulle, JP Bonmarchand, G
Citation: F. Moritz et al., Esmolol in the treatment of severe arrhythmia after acute trichloroethylene poisoning, INTEN CAR M, 26(2), 2000, pp. 256-256

Authors: Simpson, JL Ljunqvist, A Ferguson-Smith, MA de la Chapelle, A Elsas, LJ Ehrhardt, AA Genel, M Ferris, EA Carlson, A
Citation: Jl. Simpson et al., Gender vs sex - Reply, J AM MED A, 284(23), 2000, pp. 2998-2998

Authors: Simpson, JL Ljungqvist, A Ferguson-Smifh, MA de la Chapelle, A Elsas, LJ Ehrhardt, AA Genel, M Ferris, EA Carlson, A
Citation: Jl. Simpson et al., Gender verification in the Olympics, J AM MED A, 284(12), 2000, pp. 1568-1569

Authors: Yan, H Papadopoulos, N Marra, G Perrera, C Jiricny, J Boland, CR Lynch, HT Chadwick, RB de la Chapelle, A Berg, K Eshleman, JR Yuan, WS Markowitz, S Laken, SJ Lengauer, C Kinzler, KW Vogelstein, B
Citation: H. Yan et al., Conversion of diploidy to haploidy - Individuals susceptible to multigene disorders may now be spotted more easily., NATURE, 403(6771), 2000, pp. 723-724

Authors: Chadwick, RB Jiang, CL Bennington, GA Yuan, B Johnson, CK Stevens, MW Niemann, TH Peltomaki, P Huang, S de la Chapelle, A
Citation: Rb. Chadwick et al., Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis, P NAS US, 97(6), 2000, pp. 2662-2667

Authors: Desai, DC Lockman, JC Chadwick, RB Gao, X Percesepe, A Evans, DGR Miyaki, M Yuen, ST Radice, P Maher, ER Wright, FA de la Chapelle, A
Citation: Dc. Desai et al., Recurrent germline mutation in MSH2 arises frequently de novo, J MED GENET, 37(9), 2000, pp. 646-652
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