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Material Type: Artigo
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The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromesStratakis, CA ; Tichomirowa, MA ; Boikos, S ; Azevedo, MF ; Lodish, M ; Martari, M ; Verma, S ; Daly, AF ; Raygada, M ; Keil, MF ; Papademetriou, J ; Drori-Herishanu, L ; Horvath, A ; Tsang, KM ; Nesterova, M ; Franklin, S ; Vanbellinghen, J-F ; Bours, V ; Salvatori, R ; Beckers, AClinical genetics, 2010-11, Vol.78 (5), p.457-463 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Gene expression analysis of peripheral blood leukocytes from discordant sib-pairs with schizophrenia and bipolar disorder reveals points of convergence between genetic and functional genomic approachesMiddleton, Frank A. ; Pato, Carlos N. ; Gentile, Karen L. ; McGann, Lindsay ; Brown, Andrea M. ; Trauzzi, Marco ; Diab, Heba ; Morley, Christopher P. ; Medeiros, Helena ; Macedo, Antonio ; Azevedo, M. Helena ; Pato, Michele T.American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-07, Vol.136B (1), p.12-25 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VIAzevedo, Ana C. M. ; Artigalás, Osvaldo ; Vedolin, Leonardo ; Komlós, Márcia ; Pires, Adriana ; Giugliani, Roberto ; Schwartz, Ida Vanessa D.Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.357-362 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Material Type: Artigo
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Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene (CHRNA7) locus and schizophrenia in Azorean familiesXu, Junzhe ; Pato, Michele T. ; Torre, Camille Dalla ; Medeiros, Helena ; Carvalho, Celia ; Basile, Vincenzo S. ; Bauer, Amy ; Dourado, Ana ; Valente, Jose ; Soares, Maria Joao ; Macedo, Antonio A. ; Coelho, Isabel ; Ferreira, Carlos Paz ; Azevedo, M. Helena ; Macciardi, Fabio ; Kennedy, James L. ; Pato, Carlos N.American journal of medical genetics, 2001-12, Vol.105 (8), p.669-674 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: Fine mapping adds support on chromosomes 6 and 11Pato, Carlos N. ; Pato, M.T. ; Kirby, A. ; Petryshen, T.L. ; Medeiros, H. ; Carvalho, C. ; Macedo, A. ; Dourado, A. ; Coelho, I. ; Valente, J. ; Soares, M.J. ; Ferreira, C.P. ; Lei, M. ; Verner, A. ; Hudson, T.J. ; Morley, C.P. ; Kennedy, J.L. ; Azevedo, M.H. ; Daly, M.J. ; Sklar, P.American journal of medical genetics, 2004-05, Vol.127B (1), p.30-34 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding in Portuguese subpopulations and may generalize to broader populationsPato, Carlos N. ; Middleton, Frank A. ; Gentile, Karen L. ; Morley, Christopher P. ; Medeiros, Helena ; Macedo, Antonio ; Azevedo, M. Helena ; Pato, Michele T.American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-04, Vol.134B (1), p.119-121 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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7 |
Material Type: Artigo
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Detection of expansion regions in Portuguese bipolar familiesPato, Carlos N. ; Macedo, Antonio ; Ambrosio, Alda ; Vincent, John B. ; Bauer, Amy ; Schindler, Kim ; Xu, Junzhe ; Coelho, Isabel ; Dourado, Ana ; Valente, Jose ; Azevedo, M. Helena ; Kennedy, James L. ; Pato, Michele T.American journal of medical genetics, 2000-12, Vol.96 (6), p.854-857 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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8 |
Material Type: Artigo
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Selection of homogeneous populations for genetic study: The Portugal genetics of psychosis projectPato, Carlos N. ; Azevedo, M. Helena ; Pato, Michele T. ; Kennedy, James L. ; Coelho, Isabel ; Dourado, Ana ; Macedo, Antonio ; Valente, Jose ; Ferreira, Carlos Paz ; Madeira, Jose ; Gago da Camara, Joana ; Moniz, Margarida ; Correia, ConnieAmerican journal of medical genetics, 1997-05, Vol.74 (3), p.286-288 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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9 |
Material Type: Artigo
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Long repeat tracts at SCA8 in major psychosisVincent, John B. ; Yuan, Qiu-Ping ; Schalling, Martin ; Adolfsson, R ; Azevedo, M. Helena ; Macedo, Antonio ; Bauer, Amy ; DallaTorre, Camille ; Medeiros, Helena M. ; Pato, Michele T. ; Pato, Carlos N. ; Bowen, Timothy ; Guy, Carol A. ; Owen, Michael J. ; O'Donovan, Michael C. ; Paterson, Andrew D. ; Petronis, Arturas ; Kennedy, James L.American journal of medical genetics, 2000-12, Vol.96 (6), p.873-876 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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10 |
Material Type: Artigo
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Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patientsPetry, M. F. G. ; Nonemacher, K. ; Sebben, J. C. ; Schwartz, I. V. D. ; Azevedo, A. C. M. ; Burin, M. G. ; De Rezende, A. R. ; Kim, C. A. ; Giugliani, R. ; Leistner‐Segal, S.Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1027-1034 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |