skip to main content
Idioma:
Refinado por: Base de dados/Biblioteca: HighWire Press (Free Journals) remover Gale Academic OneFile Select remover assunto: Medical Sciences remover
Result Number Material Type Add to My Shelf Action Record Details and Options
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
5
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
6
Erdheim-Chester disease in Brazil
Erdheim-Chester disease in Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
7
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
8
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
9
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxia
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxia

Santoro, L ; De Michele, G ; Perretti, A ; Crisci, C ; Cocozza, S ; Cavalcanti, F ; Ragno, M ; Monticelli, A ; Filla, A ; Caruso, G

Journal of neurology, neurosurgery and psychiatry, 1999-01, Vol.66 (1), p.93-96 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
10
Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes
Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

STRAWBRIDGE, 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 S

Diabetes (New York, N.Y.), 2011-10, Vol.60 (10), p.2624-2634 [Periódico revisado por pares]

Alexandria, VA: American Diabetes Association

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Data de Publicação 

De até
Refinar
  1. Antes de1990  (1)
  2. 1990Até1993  (1)
  3. 1994Até1995  (2)
  4. 1996Até1999  (2)
  5. Após 1999  (5)
  6. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.