Área de PDI em Doenças Crônicas, Degenerativas e Genéticas 2010
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Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat. Genet. 2010 Jun; 42: 525-529.
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Braggio E, Braggio Dde A, Small IA, Lopes LF, Valadão M, Gouveia ME, Moreira Ados S, Linhares E, Romano S, Bacchi CE, Renault IZ, Guimarães DP, Ferreira CG. Prognostic relevance of KIT and PDGFRA mutations in gastrointestinal stromal tumors. Anticancer Res. 2010 Jun;30: 2407-2414.
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De Barros AP, Takiya CM, Garzoni LR, Leal-Ferreira ML, Dutra HS, Chiarini LB, Meirelles MN, Borojevic R, Rossi MI. Osteoblasts and bone marrow mesenchymal stromal cells control hematopoietic stem cell migration and proliferation in 3D in vitro model. PLoS One. 2010 Feb;5:e9093.
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Clementi M, Di Gianantonio E, Cassina M, Leoncini E, Botto LD, Mastroiacovo P; Treatment of hyperthyroidism in pregnancy and birth defects. J Clin Endocrinol Metab. 2010 Nov; 95:337-341.
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Campaña H, Ermini M, Aiello HA, Krupitzki H, Castilla EE, López-Camelo JS; Prenatal sonographic detection of birth defects in 18 hospitals from South America. J Ultrasound Med. 2010 Feb; 29: 203-212.
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Coutinho P, Sandim V, Oliveira JA, Alves G, Hatagima A. Lack of association between glutathione S-transferase polymorphisms and primary glioma in a case-control study in Rio de Janeiro. Genet Mol Res. 2010 Mar; 23: 539-544.
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Diogenes MEL, Bezerra FF, Cabello GMK, Cabello PH, Mendonça LMC, Oliveira Júnior AV, Donangelo CM. Vitamin D receptor gene FokI polymorphisms infuence bone mass in adolescent football (soccer) players. Eur. J. Appl. Physiol. 2010 Jan;108:31-38.
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Kadir MM, McClure EM, Goudar SS, Garces AL, Moore J, Onyamboko M, Kaseba C, Althabe F, Castilla EE, Freire S, Parida S, Saleem S, Wright LL, Goldenberg RL. Exposure of pregnant women to indoor air pollution: a study from nine low and middle income countries. Acta Obstet Gynecol Scand. 2010 abr; 89: 540-548.
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Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, Csáky-Szunyogh M, Dastgiri S, Feldkamp ML, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, McDonnell R, Mathew TM, Morgan M, Mutchinick OM, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sípek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet A. 2010 Jul;152:1670-1680.
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Letra A, Menezes R, Fonseca RF, Govil M, McHenry T, Murphy MJ, Hennebold JD, Granjeiro JM, Castilla EE, Orioli IM, Martin R, Marazita ML, Bjork BC, Vieira AR. Novel cleft susceptibility genes in chromosome 6q. J Dent Res. 2010 Sep; 89: 927-932.
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Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM, Castilla EE, Orioli IM, Marazita ML, Vieira AR. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. Am J Med Genet A. 2010 Jul;152:1701-1710.
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Lisi A, Botto LD, Robert-Gnansia E, Castilla EE, Bakker MK, Bianca S, Cocchi G, de Vigan C, Dutra Mda G, Horacek J, Merlob P, Pierini A, Scarano G, Sipek A, Yamanaka M, Mastroiacovo P. Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research. Reprod Toxicol. 2010 Jul; 29:433-442.
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López-Camelo JS, Castilla EE, Orioli IM. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries. Am J Med Genet A. 2010 Oct;152: 2444-2458.
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Monnerat LS, Moreira Ados S, Alves MC, Bonvicino CR, Vargas FR. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain Dev. 2010 Nov; 32: 843-848.
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Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am. J. Med. Genet. C. Semin. Med. Genet. 2010 Feb 15; 154: 13-21.
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Pinto-Mariz F, Carvalho LR, de Mello W, Araújo Ade Q, Ribeiro MG, Cunha Mdo C, Voit T, Butler-Browne G, Silva-Barbosa SD, Savino W. Differential integrin expression by T lymphocytes: potential role in DMD muscle damage. J. Neuroimmunol. 2010 Jun; 223:128-130.
Poletta FA, López-Camelo JS, Gili JA, Montalvo G, Castilla EE. Consumo y exposición al humo de tabaco en mujeres embarazadas de Ecuador. Rev Panam Salud Publica. 2010 Jan; 27: 56–65.
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Teixeira MA, Silva NL, Ramos AL, Hatagima A, Magalhães V. NRAMP1 gene polymorphisms in individuals with leprosy reactions attended at two reference centers in Recife, northeastern Brazil. Revista da Sociedade Brasileira de Medicina Tropical. 2010 Jun; 43: 281-286.
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Wehby GL, Castilla EE, Lopez-Camelo J. The impact of altitude on infant health in South America.Econ Hum Biol. 2010 Jul; 8:197-211.
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Westerberg LS, Meelu P, Baptista M, Eston MA, Adamovich DA, Cotta-de-Almeida V, Seed B, Rosen MK, Vandenberghe P, Thrasher AJ, Klein C, Alt FW, Snapper SB. Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. J Exp Med. 2010 Jun 7;
