ARTIGOS CIENTÍFICOS
Confira a lista dos artigos publicados em periódicos indexados pelos pesquisadores do Laboratório de Epidemiologia de Malformações Congênitas do Instituto Oswaldo Cruz (IOC/Fiocruz):
2014
Indexado (fator de impacto < 1 ou sem FI
Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC , Vargas FR, Moreira MA, Seuánez HN, Castilla EE, Orioli IM 2014. Molecular analysis of holoprosencephaly in South America. Genet Mol Biol 37 (1 Suppl): 250-262.Ashton-Prolla P, Vargas FR 2014. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genet Mol Biol 37: 234-240.
Indexado (fator de impacto >=1 e < 2,71)
Andrade RC, Cardoso LC, Ferman SE, Faria PS, Seuánez HN, Achatz MI, Vargas FR 2014. Association of TP53 polymorphisms on the risk of Wilms tumor. Pediatr Blood Cancer 61: 436-441.Montalvão de Azevedo R, Vasconcelos GM, Vargas FR, Thuler LC, Pombo-de-Oliveira MS, de Camargo B 2014. RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma. Genet Test Mol Bioma 19(2):75-81
Andrade RC, Nevado J, de Faria Domingues de Lima MA, Saad T, Moraes L, Chimelli L, Lapunzina P, Vargas FR 2014. Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. Am J Med Genet A 164A: 2908-2913.
Indexado (fator de impacto >=2,71 e < 4,35)
de Castilhos RM, Furtado GV, Gheno TC, Schaeffer P, Russo A, Barsottini O, Pedroso JL, Salarini DZ, Vargas FR, de Lima MA, Godeiro C, Santana-da-Silva LC, Toralles MB, Santos S, van der Linden H Jr, Wanderley HY, de Medeiros PF, Pereira ET, Ribeiro E, Saraiva-Pereira ML, Jardim LB, Rede Neurogenetica 2014. Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes. Cerebellum 13: 17-28.2013
Indexado (fator de impacto >=1 e < 2,71)
Shimizu T, Deeley K, Briseño-Ruiz J, Faraco IM Jr, Poletta FA, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Yildirim M, Mereb JC, Resick JM, Brandon CA, Cooper ME, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Orioli IM, Castilla EE, Marazita ML, Vieira AR 2013. Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries. Caries Res 47: 273-283.
Küchler EC, Deeley K, Ho B, Linkowski S, Meyer C, Noel J, Kouzbari MZ, Bezamat M, Granjeiro JM, Antunes LS, Antunes LA, de Abreu FV, Costa MC, Tannure PN, Seymen F, Koruyucu M, Patir A, Mereb JC, Poletta FA, Castilla EE, Orioli IM, Marazita ML, Vieira AR 2013. Genetic mapping of high caries experience on human chromosome 13. BMC Med Genet 14: - .
Luquetti DV, Cox TC, Lopez-Camelo J, Dutra MG, Cunningham ML, Castilla EE 2013. Preferential associated anomalies in 818 cases of microtia in South America. Am J Med Genet A 161: 1051-1057.
Indexado (fator de impacto >=2,71 e < 4,35)
Nyarko KA, Lopez-Camelo J, Castilla EE, Wehby GL 2013. Does the relationship between prenatal care and birth weight vary by oral clefts? evidence using South American and United States samples. J Pediatr-US 162: 42-49.
Nyarko KA, Lopez-Camelo J, Castilla EE, Wehby GL 2013. Explaining racial disparities in infant health in Brazil. Am J Public Health 103: 1675-1684.
Luquetti DV, Saltzman BS, Lopez-Camelo J, Dutra MG, Castilla EE 2013. Risk factors and demographics for microtia in South America: A case-control analysis. Birth Defects Res A 97: 736-743.
Indexado (fator de impacto >=4,35 e < 7,51)
Carvalho IN, Reis AH, Cabello PH, Vargas FR 2013. Polymorphisms of CDKN1A gene and risk of retinoblastoma. Carcinogenesis 34: 2774-2777.
Briseño-Ruiz J, Shimizu T, Deeley K, Dizak PM, Ruff TD, Faraco IM Jr, Poletta FA, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Koruyucu M, Mereb JC, Resick JM, Brandon CA, Letra A, Silva RM, Cooper ME, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Orioli IM, Castilla EE, Marazita ML, Vieira AR 2013. Role of TRAV locus in low caries experience. Hum Genet 132: 1015-1025.
2012
Indexado (fator de impacto >=1 e < 2,71)
McCarthy AM, Wehby GL, Barron S, Aylward GP, Castilla EE, Javois L, Goco N, Murray JC 2012. Application of neurodevelopmental screening to a sample of South American infants: the Bayley Infant Neurodevelopmental Screener (BINS). Infant Behav Dev 35: 280-294.
Barbosa-Buck CO, Orioli IM, Dutra MG, Lopez-Camelo J, Castilla EE, Cavalcanti DP 2012. Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A 158A: 1038-1045.
Wehby GL, Lopez-Camelo J, Castilla EE 2012. Hospital volume and mortality of very low-birthweight infants in South America. Health Serv Res 47: 1502-1521.
Indexado (fator de impacto >=2,71 e < 4,35)
Letra A, Bjork B, Cooper ME, Szabo-Rogers H , Deleyiannis FW, Field LL, Czeizel AE , Ma L, Garlet GP, Poletta FA, Mereb JC, Lopez-Camelo JS, Castilla EE, Orioli IM, Wendell S, Blanton SH, Liu K, Hecht JT, Marazita ML , Vieira AR, Silva RM 2012. Association of AXIN2 with non-syndromic oral clefts in multiple populations. J Dent Res 91: 473-478.
Shimizu T, Ho B, Deeley K, Briseño-Ruiz J, Faraco IM Jr, Schupack BI, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Yildirim M, Poletta FA, Mereb JC, Resick JM, Brandon CA, Orioli IM , Castilla EE, Marazita ML, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Vieira AR 2012. Enamel formation genes influence enamel microhardness before and after cariogenic challenge. PLoS One 7: - .
Poletta FA, López Camelo JS, Gili JA, Leoncini E, Castilla EE, Mastroiacovo P 2012. Methodological approaches to evaluate teratogenic risk using birth defect registries: advantages and disadvantages. PLoS One 7: - .
Nassar N, Leoncini E, Amar E, Arteaga-Vázquez J, Bakker MK , Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, Csáky-Szunyogh M , Feldkamp ML, Khoshnood B, Landau D, Lelong N, López-Camelo JS, Lowry RB, McDonnell R, Merlob P, Métneki J, Morgan M, Mutchinick OM, Palmer MN, Rissmann A, Siffel C, Sìpek A, Szabova E, Tucker D, Mastroiacovo P 2012. Prevalence of esophageal atresia among 18 international birth defects surveillance programs. Birth Defects Res A 94: 893-899.
2010
Poletta FA, López-Camelo JS, Gili JA, Montalvo G, Castilla EE 2010. Consumo y exposición al humo de tabaco en mujeres embarazadas de Ecuador. Rev. Panam. Salud Publica 27: 56-65.
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, Global Network Tobacco Study Group 2010. Exposure of pregnant women to indoor air pollution: a study from nine low and middle income countries. Acta Obstet Gynecol Scand 89: 540-548.
Campaña H, Ermini M, Aiello HA, Krupitzki H, Castilla EE, López-Camelo JS, L. A. Collaborative Study of Cong. M 2010. Prenatal sonographic detection of birth defects in 18 hospitals from South America. J Ultrasound Med 29: 203-212.
López-Camelo JS, Castilla EE, Orioli IM, INAGEMP, ECLAMC 2010. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries. Am J Med Genet A 152A: 2444-2458.
Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM, Castilla EE, Orioli IM, Marazita ML, Vieira AR 2010. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. Am J Med Genet A 152A: 1701-1710.
Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, Csaky-Szunyogh M, Dastgiri S, Feldkamp M, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, Mc Donnell R, Mathew TM, Morgan M, Mutchinick O, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sipek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P 2010. 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 152A: 1670-1680.
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 2010. Novel cleft susceptibility genes in chromosome 6q . J Dent Res 89: 927-932.
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 2010. Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research. Reprod Toxicol 29: 433-442.
Wehby G, Castilla EE, Lopez-Camelo J 2010. The impact of altitude on infant health in South America. Econ Hum Biol 8: 197-211.
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 2010. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42: 525-529.
Orioli IM, Castilla EE 2010. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C 154C: 13-21.
Clementi M, Di Gianantonio E, Cassina M, Leoncini E, Botto LD, Mastroiacovo P, de Vigan C, Merlob P, Pierini A, Scarano G, Sipek A, Yamanaka M 2010. Treatment of hyperthyroidism in pregnancy and birth defects. J Clin Endocrinol Metab 95: E337-E341.
2008
Leoncini E, Baranello G, Orioli IM, Annerén G, Bakker M, Bianchi F, Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, De Vigan C, Doray B, Feldkamp ML, Gatt M, Irgens LM, Lowry RB, Maraschini A, Mc Donnell R, Morgan M, Mutchinick O, Poetzsch S, Riley M, Ritvanen A, Gnansia ER, Scarano G, Sipek A, Tenconi R, Mastroiacovo P 2008. Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations. Birth Defects Res A 82: 585-591.
Rittler M, López-Camelo JS, Castilla EE, Bermejo E, Cocchi G, Correa A, Csaky-Szunyogh M, Danderfer R, De Vigan C, De Walle H, Dutra MG, Hirahara F, Martínez-Frías ML, Merlob P, Mutchinick O, Ritvanen A, Robert-Gnansia E, Scarano G, Siffel C, Stoll C, Mastroiacovo P 2008. Preferential associations between oral clefts and other major congenital anomalies. Cleft Palate-Cran J 45: 525-532.
Vieira AR, Cooper ME, Marazita ML, Castilla EE, Orioli IM 2008. Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only. Braz J Med Biol Res 41: 689-693.
Castilla EE, Mastroiacovo P, Orioli IM 2008. Gastroschisis: International epidemiology and public health perspectives. Am J Med Genet C 148C: 162-179.
Weinberg SM, Brandon CA, McHenry TH, Neiswanger K, Deleyiannis FW, Salamanca JE, Castilla EE, Czeizel AE, Vieira AR, Marazita ML 2008. Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases. Am J Med Genet A 146A: 1670-1675.
Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM 2008. Sirenomelia and cyclopia cluster in Cali, Colombia. Am J Med Genet A 146A: 2626-2636.
Bloch M, Althabe F, Onyamboko M, Kaseba-Sata C, Castilla EE, Freire S, Garces AL, Parida S, Goudar SS, Kadir MM, Goco N, Thornberry J, Daniels M, Bartz J, Hartwell T, Moss N, Goldenberg R 2008. Tobacco use and secondhand smoke exposure during pregnancy: An investigative survey of women in 9 developing nations. Am J Public Health 98: 1833-1840.
2007
Orioli IM, Castilla EE 2007. Clinical Epidemiological study of Holoprosencephaly in South America. Am J Med Genet A 143 A: 3088-3099.
Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, Kucik J, Siffel C, Halliday J, Gatt M, Annerèn G, Bianchi F, Canessa MA, Danderfer R, de Walle H, Harris J, Zhu Li, Lowry RB, McDonell R, Merlob P, Metneki J, Mutchinick O, Robert-Gnansia E, Scarano G, Sipek A, Pötzsch S, Szabova E, Yevtushok L 2007. Gastroschisis and associated defects: an international study.. Am J Med Genet A 143: 660-671.
Vieira AR, Cooper ME, Marazita ML, Orioli IM, Castilla EE 2007. Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America. Am J Med Genet A 143 A: 2075-2078.
Amorim MR, Lima MA, Castilla EE, Orioli IM 2007. Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: A meta-analysis. Am J Med Genet A 143 A: 1726-1732.
Poletta, FA , Castilla EE, Orioli, IM, López-Camelo, JS 2007. Regional Analysis on the Occurrence of Oral Clefts in South America.. Am J Med Genet A 143 A: 3216-3227.
2006
Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC 2006. Contributions of PTCH gene variants to isolated cleft lip and palate.. Cleft Palate-Cran J 43: 21-29.
Wehby GL, Castilla EE, Goco N, Rittler M, Cosentino V, Javois L, McCarthy AM, Bobashev G, Litavecz S, Mariona A, Dutra MG, Lopez-Camelo JS, Orioli IM, Murray JC 2006. Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149] . BMC Pediatrics : 0-0.
Gadow E, Petracchi F, Poletta FA, Castilla EE 2006. De novo chromosomal abnormalities and month of conception. Data from the southern hemisphere. Prenatal Diag 26: 1184-1186.
Avila JR, Jezewski PA, Veira AR, Orioli IM, Castilla EE, Christensen K, Daack-Hirsch S, Romitti PA, Murray JC 2006. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.. Am J Med Genet A 140: 2562-2570.
Warrington A , Vieira AR, Christensen K, Orioli IM, Castilla EE, Romitti PA, Murray JC 2006. Genetic evidence for the role of loci at 19q13 in cleft lip and palate.. J Med Genet 43: 26-26.
Mastroiacovo P, Lisi A, Castilla EE 2006. The incidence of gastroschisis: research urgently needs resources.. BMJ 332: 423-424.
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