Search Results - "BAIGET, Monserrat"

Effect of Mammography on Breast Cancer Risk in Women with Mutations in BRCA1 or BRCA2 by GOLDFRANK, Deborah, CHUAI, Shannon, ROBSON, Mark, BERNSTEIN, Jonine L, Y CAJAL, Teresa Ramon, LEE, Johanna B, ALONSO, M. Carmen, DIEZ, Orland, BAIGET, Monserrat, KAUFF, Noah D, OFFIT, Kenneth

“…Women who carry mutations in either the BRCA1 or BRCA2 genes are at risk for early-onset breast cancer and are recommended to begin screening mammography at…”
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Serotonin transporter linked promoter (polymorphism) in the serotonin transporter gene may be associated with antidepressant-induced mania in bipolar disorder by Masoliver, Elisabet, Menoyo, Ana, Pérez, Victor, Volpini, Victor, Rio, Elisabet Del, Pérez, Josefina, Alvarez, Enric, Baiget, Monserrat

“…Several pharmacogenetic studies suggest that response to pharmacotherapy in bipolar disorder may be mediated by genetic factors. The aim of this study was to…”
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Mutational Screening of the RP2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa by Garcia-Hoyos, Maria, Garcia-Sandoval, Blanca, Cantalapiedra, Diego, Riveiro, Rosa, Lorda-Sanchez, Isabel, Trujillo-Tiebas, Maria Jose, Rodriguez de Alba, Marta, Millan, Jose Maria, Baiget, Monserrat, Ramos, Carmen, Ayuso, Carmen

“…The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression. Five XLRP loci have been mapped,…”
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Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis by Tizzano, Eduardo F, Barceló, María J, Baena, Manel, Cornet, Mónica, Venceslá, Adoración, Mateo, José, Fontcuberta, Jordi, Baiget, Montserrat

“…Large deletions of the factorVIII gene account for approximately 5% of severe haemophilia A patients. Although deletions are readily detectable in males, the…”
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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa by Miano, M G, 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

“…The RPGR (retinitis pigmentosa GTPase regulator) gene has been shown to be mutated in 10-20% of patients with X-linked retinitis pigmentosa (XLRP), a severe…”
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Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus by Capon, Francesca, Levato, Chiarina, Bussaglia, Elena, Cicero, Stefania Lo, Tizzano, Eduardo F., Baiget, Monserrat, Silani, Vincenzo, Pizzuti, Antonio, Novelli, Giuseppe, Dallapiccola, Bruno

“…Multicopy dinucleotide repeats have been characterized in the spinal muscular atrophy (SMA) region on chromosome 5q13, which reveal deletions in some SMA…”
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