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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