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1 |
Material Type: Artigo
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat ExpansionCampuzano, Victoria ; Montermini, Laura ; Moltò, Maria Dolores ; Pianese, Luigi ; Cossée, Mireille ; Cavalcanti, Francesca ; Monros, Eugenia ; Rodius, François ; Duclos, Franck ; Monticelli, Antonella ; Zara, Federico ; Cañizares, Joaquin ; Koutnikova, Hana ; Bidichandani, Sanjay I. ; Gellera, Cinzia ; Brice, Alexis ; Trouillas, Paul ; De Michele, Giuseppe ; Filla, Alessandro ; De Frutos, Rosa ; Palau, Francisco ; Patel, Pragna I. ; Di Donato, Stefano ; Mandel, Jean-Louis ; Cocozza, Sergio ; Koenig, Michel ; Pandolfo, MassimoScience (American Association for the Advancement of Science), 1996-03, Vol.271 (5254), p.1423-1427 [Periódico revisado por pares]Washington, DC: American Society for the Advancement of ScienceTexto completo disponível |
2 |
Material Type: Artigo
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Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumCavalcanti, Denise P ; Huber, Celine ; Le Quan Sang, Kim-Hanh ; Baujat, Geneviève ; Collins, Felicity ; Delezoide, Anne-Lise ; Dagoneau, Nathalie ; Le Merrer, Martine ; Martinovic, Jelena ; Mello, Marcos Fernando S ; Vekemans, Michel ; Munnich, Arnold ; Cormier-Daire, ValerieJournal of medical genetics, 2011-02, Vol.48 (2), p.88-92 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locusDe Michele, G ; Filla, A ; Cavalcanti, F ; Di Maio, L ; Pianese, L ; Castaldo, I ; Calabrese, O ; Monticelli, A ; Varrone, S ; Campanella, GJournal of neurology, neurosurgery and psychiatry, 1994-08, Vol.57 (8), p.977-979 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexesFilla, A ; De Michele, G ; Cavalcanti, F ; Perretti, A ; Santoro, L ; Barbieri, F ; D'Arienzo, G ; Campanella, GJournal of neurology, neurosurgery and psychiatry, 1990-08, Vol.53 (8), p.667-670 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisationJehee, F S ; Krepischi-Santos, A C V ; Rocha, K M ; Cavalcanti, D P ; Kim, C A ; Bertola, D R ; Alonso, L G ; D’Angelo, C S ; Mazzeu, J F ; Froyen, G ; Lugtenberg, D ; Vianna-Morgante, A M ; Rosenberg, C ; Passos-Bueno, M RJournal of medical genetics, 2008-07, Vol.45 (7), p.447-450 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
6 |
Material Type: Artigo
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Erdheim-Chester disease in BrazilLopes Marques, C D ; Duarte, Â L Branco Pinto ; Cavalcanti, F de SouzaAnnals of the rheumatic diseases, 2003-03, Vol.62 (3), p.270-270 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and European League Against RheumatismTexto completo disponível |
7 |
Material Type: Artigo
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Interactions of Dietary Whole-Grain Intake With Fasting Glucose- and Insulin-Related Genetic Loci in Individuals of European Descent: A meta-analysis of 14 cohort studiesNettleton, Jennifer A ; McKeown, Nicola M ; Kanoni, Stavroula ; Lemaitre, Rozenn N ; Hivert, Marie-France ; Ngwa, Julius ; van Rooij, Frank J.A ; Sonestedt, Emily ; Wojczynski, Mary K ; Ye, Zheng ; Tanaka, ToshDiabetes care, 2010-12, Vol.33 (12), p.2684-2691 [Periódico revisado por pares]Alexandria, VA: American Diabetes AssociationTexto completo disponível |
8 |
Material Type: Artigo
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Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian populationPianese, L ; Cocozza, S ; Campanella, G ; Castaldo, I ; Cavalcanti, F ; De Michele, G ; Filla, A ; Monticelli, A ; Munaro, M ; Redolfi, EJournal of medical genetics, 1994-02, Vol.31 (2), p.133-135 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
9 |
Material Type: Artigo
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Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxiaSantoro, L ; De Michele, G ; Perretti, A ; Crisci, C ; Cocozza, S ; Cavalcanti, F ; Ragno, M ; Monticelli, A ; Filla, A ; Caruso, GJournal of neurology, neurosurgery and psychiatry, 1999-01, Vol.66 (1), p.93-96 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
10 |
Material Type: Artigo
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Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 DiabetesSTRAWBRIDGE, Rona J ; DUPUIS, Josée ; NICA, Alexandra ; WHEELER, Eleanor ; HAN CHEN ; VOIGHT, Benjamin F ; TANEERA, Jalal ; KANONI, Stavroula ; PEDEN, John F ; TURRINI, Fabiola ; GUSTAFSSON, Stefan ; ZABENA, Carina ; PROKOPENKO, Inga ; ALMGREN, Peter ; BARKER, David J. P ; BARNES, Daniel ; DENNISON, Elaine M ; ERIKSSON, Johan G ; ERIKSSON, Per ; EURY, Elodie ; FOLKERSEN, Lasse ; FOX, Caroline S ; FRAYLING, Timothy M ; BARKER, Adam ; GOEL, Anuj ; GU, Harvest F ; HORIKOSHI, Momoko ; ISOMAA, Bo ; JACKSON, Anne U ; JAMESON, Karen A ; KAJANTIE, Eero ; KERR-CONTE, Julie ; KUULASMAA, Teemu ; KUUSISTO, Johanna ; AHLQVIST, Emma ; LOOS, Ruth J. F ; JIAN'AN LUAN ; MAKRILAKIS, Konstantinos ; MANNING, Alisa K ; MARTINEZ-LARRAD, Maria Teresa ; NARISU, Narisu ; MANNILA, Maria Nastase ; OHRVIK, John ; OSMOND, Clive ; PASCOE, Laura ; RYBIN, Denis ; PAYNE, Felicity ; SAYER, Avan A ; SENNBLAD, Bengt ; SILVEIRA, Angela ; STANCAKOVA, Alena ; STIRRUPS, Kathy ; SWIFT, Amy J ; SYVÄNEN, Ann-Christine ; PETRIE, John R ; TRAVERS, Mary E ; BOUATIA-NAJI, Nabila ; DIMAS, Antigone SDiabetes (New York, N.Y.), 2011-10, Vol.60 (10), p.2624-2634 [Periódico revisado por pares]Alexandria, VA: American Diabetes AssociationTexto completo disponível |