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1
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, 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, Massimo

Science (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 Science

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2
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
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Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Cavalcanti, 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, Valerie

Journal of medical genetics, 2011-02, Vol.48 (2), p.88-92 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus
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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

De Michele, G ; Filla, A ; Cavalcanti, F ; Di Maio, L ; Pianese, L ; Castaldo, I ; Calabrese, O ; Monticelli, A ; Varrone, S ; Campanella, G

Journal of neurology, neurosurgery and psychiatry, 1994-08, Vol.57 (8), p.977-979 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes
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Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes

Filla, A ; De Michele, G ; Cavalcanti, F ; Perretti, A ; Santoro, L ; Barbieri, F ; D'Arienzo, G ; Campanella, G

Journal of neurology, neurosurgery and psychiatry, 1990-08, Vol.53 (8), p.667-670 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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5
Extent of gene duplication in the genomes of Drosophila, nematode, and yeast
Extent of gene duplication in the genomes of Drosophila, nematode, and yeast
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Extent of gene duplication in the genomes of Drosophila, nematode, and yeast

Gu, Zhenglong ; Cavalcanti, Andre ; Chen, Feng-Chi ; Bouman, Peter ; Li, Wen-Hsiung

Molecular biology and evolution, 2002-03, Vol.19 (3), p.256-262 [Periódico revisado por pares]

United States

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6
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 hybridisation
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 hybridisation
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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 hybridisation

Jehee, 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 R

Journal of medical genetics, 2008-07, Vol.45 (7), p.447-450 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Erdheim-Chester disease in Brazil
Erdheim-Chester disease in Brazil
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Erdheim-Chester disease in Brazil

Lopes Marques, C D ; Duarte, Â L Branco Pinto ; Cavalcanti, F de Souza

Annals 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 Rheumatism

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8
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 studies
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 studies
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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 studies

Nettleton, 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, Tosh

Diabetes care, 2010-12, Vol.33 (12), p.2684-2691 [Periódico revisado por pares]

Alexandria, VA: American Diabetes Association

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9
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population
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Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population

Pianese, L ; Cocozza, S ; Campanella, G ; Castaldo, I ; Cavalcanti, F ; De Michele, G ; Filla, A ; Monticelli, A ; Munaro, M ; Redolfi, E

Journal of medical genetics, 1994-02, Vol.31 (2), p.133-135 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Cardiovascular and Other Outcomes Postintervention With Insulin Glargine and Omega-3 Fatty Acids (ORIGINALE)
Cardiovascular and Other Outcomes Postintervention With Insulin Glargine and Omega-3 Fatty Acids (ORIGINALE)
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Cardiovascular and Other Outcomes Postintervention With Insulin Glargine and Omega-3 Fatty Acids (ORIGINALE)

Punthakee, Z ; Gerstein, HC ; Bosch, J ; Tyrwhitt, J ; Jung, H ; Lee, SF ; Lonn, E ; Marsden, T ; McKelvie, R ; McQueen, MJ ; Morillo, CA ; Yusuf, S ; Dagenais, GR ; Diaz, R ; Maggioni, AP ; Probstfield, J ; Ramachandran, A ; Riddle, MC ; Ryden, LE ; Badings, EA ; Birkeland, KI ; Cardona, E ; Commerford, P ; Davies, M ; Fodor, JG ; Gomis, R ; Hanefeld, M ; Hildebrandt, P ; Kacerovsky-Bielesz, G ; Keltai, M ; Lanas, F ; Lewis, BS ; Lopez-Jaramillo, P ; Marin-Neto, J ; Marre, M ; Mendoza, I ; Pan, CY ; Pirags, V ; Rosenstock, J ; Spinas, GA ; Sreenan, S ; Syvanne, M ; Yale, JF

Diabetes care, 2016-05, Vol.39 (5), p.709-716 [Periódico revisado por pares]

United States: American Diabetes Association

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