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Results: 1-25/33
Authors:
Campos, B
Diez, O
Cortes, J
Domenech, M
Pericay, C
Alonso, C
Baiget, M
Citation: B. Campos et al., Conditions for single-strand conformation polymorphism (SSCP) analysis of BRCA1 gene using an automated electrophoresis unit, CLIN CH L M, 39(5), 2001, pp. 401-404
Authors:
Pericay, C
Brunet, J
Diez, O
Sanz, J
Cortes, J
Baiget, M
Alonso, C
Citation: C. Pericay et al., Clinical and pathological findings of BRCA1/2 associated breast cancer, BREAST, 10(1), 2001, pp. 46-48
Authors:
Soria, JM
Baiget, M
Castano, L
Tejada, MI
Perez-Nanclares, G
Fontcuberta, J
Citation: Jm. Soria et al., Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia, HAEMATOLOG, 86(8), 2001, pp. 889-890
TEL rearrangements in acute lymphoblastic leukemia: association with p16 deletions in relapsed cases
Authors:
Nomdedeu, JF
Badell, I
Estivill, C
Carnicer, MJ
Sierra, J
Baiget, M
Citation: Jf. Nomdedeu et al., TEL rearrangements in acute lymphoblastic leukemia: association with p16 deletions in relapsed cases, HAEMATOLOG, 86(5), 2001, pp. 547-548
Authors:
Illa, I
Serrano-Munuera, C
Gallardo, E
Lasa, A
Rojas-Garcia, R
Palmer, J
Gallano, P
Baiget, M
Matsuda, C
Brown, RH
Citation: I. Illa et al., Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype, ANN NEUROL, 49(1), 2001, pp. 130-134
Authors:
Cusco, I
Barcelo, MJ
del Rio, E
Martin, Y
Hernandez-Chico, C
Bussaglia, E
Baiget, M
Tizzano, EF
Citation: I. Cusco et al., Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases, HUM GENET, 108(3), 2001, pp. 222-229
Authors:
Martorell, L
Monckton, DG
Sanchez, A
de Munain, AL
Baiget, M
Citation: L. Martorell et al., Frequency and stability of the myotonic dystrophy type 1 premutation, NEUROLOGY, 56(3), 2001, pp. 328-335
Authors:
Pericay, C
Diez, O
Campos, B
Balmana, J
Domenech, M
Lerma, E
Baena, M
Sabate, JM
Gomez, A
Lopez, JJ
Baiget, M
Alonso, C
Citation: C. Pericay et al., Clinical and pathological characteristics and follow-up of patients with breast cancer and BRCA1/BRCA2 mutations, MED CLIN, 117(5), 2001, pp. 161-166
Authors:
Marcos, I
Ruiz, A
Borrego, S
Ayuso, C
Baiget, M
Antinolo, G
Citation: I. Marcos et al., Molecular analysis of the RPE65 gene in 72 Spanish families with autosomalrecessive retinitis pigmentosa, MED CLIN, 117(4), 2001, pp. 121-123
Authors:
Gras, E
Cortes, J
Diez, O
Alonso, C
Matias-Guiu, X
Baiget, M
Prat, J
Citation: E. Gras et al., Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors, CANCER, 92(4), 2001, pp. 787-795
Authors:
Martorell, L
Monckton, DG
Gamez, J
Baiget, M
Citation: L. Martorell et al., Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1, EUR J HUM G, 8(6), 2000, pp. 423-430
Authors:
Diez, O
Cortes, J
Domenech, M
Pericay, C
Brunet, J
Alonso, C
Baiget, M
Citation: O. Diez et al., BRCA2 germ-line mutations in Spanish male breast cancer patients, ANN ONCOL, 11(1), 2000, pp. 81-84
Authors:
Remacha, AF
Carrasco, M
Sarda, MP
Barcelo, MJ
Blesa, I
Baiget, M
Citation: Af. Remacha et al., Screening for iron overload and HFE mutations in a university hospital, HAEMATOLOG, 85(8), 2000, pp. 873-874
Authors:
Remacha, AF
Barcelo, MJ
Sarda, MP
Blesa, I
Altes, A
Baiget, M
Citation: Af. Remacha et al., The S65C mutation in Spain. Implications for iron overload screening, HAEMATOLOG, 85(12), 2000, pp. 1324-1325
Authors:
Gonzalez, I
Ohsawa, N
Singer, RH
Devillers, M
Ashizawa, T
Balasubramanyam, A
Cooper, TA
Khajavi, M
Lia-Baldini, AS
Miller, G
Philips, AV
Timchenko, LT
Waring, J
Yamagata, H
Barbet, JP
Klesert, TR
Tapscott, SJ
Roses, AD
Wagner, M
Baiget, M
Martorell, L
Browne, GB
Eymard, B
Gourdon, G
Junien, C
Seznec, H
Carey, N
Gosling, M
Maire, P
Gennarelli, M
Sato, S
Ansved, T
Kvist, U
Eriksson, M
Furling, D
Chen, EJ
Housman, DE
Luciano, B
Siciliano, M
Spring, N
Shimizu, M
Eddy, E
Morris, GE
Krahe, R
Furuya, H
Adelman, J
Pribnow, D
Furutama, D
Mathieu, J
Hilton-Jones, D
Kinoshita, M
Abbruzzese, C
Sinden, RR
Wells, RD
Pearson, CE
Kobayashi, T
Johansson, A
Salvatori, S
Perryman, B
Swanson, MS
Gould, FK
Harris, SE
Johnson, K
Mitchell, AM
Monckton, DG
Winchester, CL
Antonini, G
Day, JW
Liquori, C
Ranum, LPW
Westerlaken, J
Wieringa, B
Griffith, JD
Michalowski, S
Moore, H
Hamshere, M
Korade, Z
Thornton, CA
Jaeger, H
Lehmann, F
Moorman, JR
Mounsey, JP
Mahadevan, MS
Citation: I. Gonzalez et al., New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1), NEUROLOGY, 54(6), 2000, pp. 1218-1221
Authors:
Corominas, H
Domenech, M
Gonzalez-Juan, D
Gonzalez-Suarez, B
Diaz, C
Pujol, J
Vazquez, G
Baiget, M
Citation: H. Corominas et al., Aplasia after azathioprine administration: role of the thiopurine methyltransferase genetic polymorphism, MED CLIN, 115(8), 2000, pp. 299-301
Authors:
Diez, O
Campos, B
Baiget, M
Citation: O. Diez et al., Molecular diagnosis for hereditary cancer, MED CLIN, 115(5), 2000, pp. 190-197
Authors:
Nomdedeu, JF
Badell, I
Estivill, C
del Rio, E
Sierra, J
Baiget, M
Citation: Jf. Nomdedeu et al., Mutational analysis of p53 in T-acute lymphoblastic leukemia, MED CLIN, 115(15), 2000, pp. 573-575
Authors:
Mazoyer, S
Leary, J
Kirk, J
Fleischmann, E
Wagner, T
Claes, K
Messiaen, L
Foulkes, W
Desrochers, M
Simard, J
Phelan, CM
Kwan, E
Narod, SA
Vahteristo, P
Nevanlinna, H
Durando, X
Bignon, YJ
Peyrat, JP
Bonnardel, C
Sinilnikova, OM
Puget, N
Lenoir, GM
Mazoyer, S
Audoynaud, C
Goldgar, D
Maugard, C
Caux, V
Gad, S
Stoppa-Lyonnet, D
Nogues, C
Lidereau, R
Machavoine, C
Bressac-de Paillerets, B
Kuschel, B
Betz, B
Niederacher, D
Beckmann, MW
Hamann, U
Gayther, SA
Ponder, BAP
Robinson, M
Taylor, GR
Bishop, T
Catteau, A
Solomon, E
Cohen, B
Steel, M
Collins, N
Stratton, M
van der Looij, M
Olah, E
Miller, NJ
Barton, DE
Sverdlov, RS
Friedman, E
Radice, P
Montagna, M
Sensi, E
Caligo, M
van Eijk, R
Devilee, P
van der Luijt, R
Heimdal, K
Moller, P
Borg, A
Diez, O
Cortes, J
Domenech, M
Baiget, M
Osorio, A
Benitez, J
Borg, A
Maillet, P
Sappino, AP
Ozdag, H
Ozcelik, T
Ozturk, M
Rohlfs, EM
Boyd, J
McDermott, D
Offit, K
Unger, M
Nathanson, K
Weber, BL
Sellers, TA
Hampton, E
Couch, FJ
Neuhausen, S
Citation: S. Mazoyer et al., The exon 13 duplication in the BRCA1 gene is a founder mutation present ingeographically diverse populations, AM J HU GEN, 67(1), 2000, pp. 207-212
Authors:
Corominas, H
Domenech, M
Gonzalez, D
Diaz, C
Roca, M
Garcia-Gonzalez, MA
Pena, S
Baiget, M
Citation: H. Corominas et al., Allelic variants of the thiopurine S-methyltranferase deficiency in patients with ulcerative colitis and in healthy controls, AM J GASTRO, 95(9), 2000, pp. 2313-2317
Authors:
Miano, MG
Testa, F
Strazzullo, M
Trujillo, M
De Bernardo, C
Grammatico, B
Simonelli, F
Mangino, M
Torrente, I
Ruberto, G
Beneyto, M
Antinolo, G
Rinaldi, E
Danesino, C
Ventruto, V
D'Urso, M
Ayuso, C
Baiget, M
Ciccodicola, A
Citation: Mg. Miano et al., Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa, EUR J HUM G, 7(6), 1999, pp. 687-694
Authors:
Hernandez, F
Lopez, O
Estivill, C
Baiget, M
Pujol, RM
Bordes, R
Nomdedeu, JF
Citation: F. Hernandez et al., NPM/ALK rearrangements in indolent cutaneous lesions, LEUKEMIA, 13(8), 1999, pp. 1291-1292
Authors:
Altes, A
Gimferrer, E
Capella, G
Barcelo, J
Baiget, M
Citation: A. Altes et al., Colorectal cancer and HFE gene mutations, HAEMATOLOG, 84(5), 1999, pp. 479-480
Authors:
Remacha, AF
Carrasco, M
Sarda, MP
Barcelo, MJ
Baiget, M
Citation: Af. Remacha et al., HFE mutation analysis in patients with hepatitis C virus with positive screening for iron overload, HAEMATOLOG, 84(3), 1999, pp. 284-285
Authors:
de Diego, C
Gamez, J
Plassart-Schiess, E
Lasa, A
Del Rio, E
Cervera, C
Baiget, M
Gallano, P
Fontaine, B
Citation: C. De Diego et al., Novel mutations in the muscle chloride channel CLCN1 gene causing myotoniacongenita in Spanish families, J NEUROL, 246(9), 1999, pp. 825-829