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Results:
1-16
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Results: 16
Authors:
Castellvi-Bel, S
Mila, M
Citation: S. Castellvi-bel et M. Mila, Genes responsible for nonspecific mental retardation, MOL GEN MET, 72(2), 2001, pp. 104-108
Authors:
Mallolas, J
Duran, M
Sanchez, A
Jimenez, D
Castellvi-Bel, S
Rife, M
Mila, M
Citation: J. Mallolas et al., Implications of the FMR1 gene in menopause: study of 147 Spanish women, MENOPAUSE, 8(2), 2001, pp. 106-110
Authors:
Rizos, H
Puig, S
Badenas, C
Malvehy, J
Darmanian, AP
Jimenez, L
Mila, M
Kefford, RF
Citation: H. Rizos et al., A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF, ONCOGENE, 20(39), 2001, pp. 5543-5547
Authors:
Mallolas, J
Vilaseca, MA
Pavia, C
Lambruschini, N
Cambra, FJ
Campistol, J
Gomez, D
Carrio, A
Estivill, X
Mila, M
Citation: J. Mallolas et al., Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes, J MOL MED-J, 78(12), 2001, pp. 721-724
Authors:
Badenas, C
Castellvi-Bel, S
Volpini, V
Jimenez, D
Sanchez, A
Estivill, X
Mila, M
Citation: C. Badenas et al., Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21, AM J MED G, 98(4), 2001, pp. 343-347
Authors:
Mila, M
Castellvi-Bel, S
Sanchez, A
Barcelo, A
Badenas, C
Mallolas, J
Estivill, X
Citation: M. Mila et al., Rare variants in the promoter of the fragile X syndrome gene (FMR1), MOL CELL PR, 14(2), 2000, pp. 115-119
Authors:
Castellvi-Bel, S
Fernandez-Burriel, M
Rife, M
Jimenez, D
Mallolas, J
Sanchez, A
Ramos, F
Mila, M
Citation: S. Castellvi-bel et al., Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles, HUM GENET, 107(2), 2000, pp. 195-196
Authors:
Torra, R
Badenas, C
Perez-Oller, L
Luis, J
Millan, S
Nicolau, C
Oppenheimer, F
Mila, M
Darnell, A
Citation: R. Torra et al., Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients, AM J KIDNEY, 36(4), 2000, pp. 728-734
Authors:
Rife, M
Mallolas, J
Castellvi-Bel, S
Badenas, C
Jimenez, D
Mila, M
Citation: M. Rife et al., Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mentalretardation Spanish patients, AM J MED G, 94(5), 2000, pp. 389-391
Authors:
Mallolas, J
Mila, M
Lambruschini, N
Cambra, FJ
Campistol, J
Vilaseca, H
Citation: J. Mallolas et al., Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes, MOL GEN MET, 67(2), 1999, pp. 156-161
Authors:
Mallolas, J
Vilaseca, MA
Campistol, J
Lambruschini, N
Cambra, FJ
Estivill, X
Mila, M
Citation: J. Mallolas et al., Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation, HUM GENET, 105(5), 1999, pp. 468-473
Authors:
Perez-Oller, L
Torra, R
Badenas, C
Mila, M
Darnell, A
Citation: L. Perez-oller et al., Influence of the ACE gene polymorphism in the progression of renal failurein autosomal dominant polycystic kidney disease, AM J KIDNEY, 34(2), 1999, pp. 273-278
Authors:
Castellvi-Bel, S
Sanchez, A
Badenas, C
Mallolas, J
Barcelo, A
Jimenez, D
Villa, M
Estivill, X
Mila, M
Citation: S. Castellvi-bel et al., Single-strand conformation polymorphism analysis in the FMR1 gene, AM J MED G, 84(3), 1999, pp. 262-265
Authors:
Badenas, C
Torra, R
San Millan, JL
Lucero, L
Mila, M
Estivill, X
Darnell, A
Citation: C. Badenas et al., Mutational analysis within the 3 ' region of the PKD1 gene, KIDNEY INT, 55(4), 1999, pp. 1225-1233
Authors:
Mila, M
Carrio, A
Sanchez, A
Gomez, D
Jimenez, D
Estivill, X
Ballesta, F
Citation: M. Mila et al., Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome, MED CLIN, 113(2), 1999, pp. 46-49
Authors:
Munoz, E
Mila, M
Sanchez, A
Latorre, P
Ariza, A
Codina, M
Ballesta, F
Tolosa, E
Citation: E. Munoz et al., Dentatorubropallidoluysian atrophy in a Spanish family: a clinical, radiological, pathological, and genetic study, J NE NE PSY, 67(6), 1999, pp. 811-814
Risultati:
1-16
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