E E Castilla

Summary

Affiliation: Rio de Janeiro
Country: Brazil

Publications

  1. doi request reprint Sirenomelia and cyclopia cluster in Cali, Colombia
    Eduardo E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, FIOCRUZ Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    Am J Med Genet A 146:2626-36. 2008
  2. doi request reprint Brazil: public health genomics
    E E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, at FIOCRUZ Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    Public Health Genomics 12:53-8. 2009
  3. pmc The effect of systematic pediatric care on neonatal mortality and hospitalizations of infants born with oral clefts
    George L Wehby
    Department of Pediatrics, University of Iowa, Iowa City, IA, USA
    BMC Pediatr 11:121. 2011
  4. pmc Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149]
    George L Wehby
    Department of Health Management and Policy, University of Iowa, Iowa City, USA
    BMC Pediatr 6:9. 2006
  5. doi request reprint Very rare defects: what can we learn?
    Eduardo E Castilla
    Estudio Colaborativo Latino Americano de Malformaciones Congénitas Laboratorio de Epidemiologia de Malformações Congènitas, Instituto Oswaldo Cruz Rio de Janeiro, RJ, Brazil
    Am J Med Genet C Semin Med Genet 157:252-61. 2011
  6. doi request reprint Gastroschisis: international epidemiology and public health perspectives
    Eduardo E Castilla
    ECLAMC GENETICA FIOCRUZ, Av Brasil 4365, Pav 26, sala 617, 21045 900 Rio de Janeiro, Brazil
    Am J Med Genet C Semin Med Genet 148:162-79. 2008
  7. ncbi request reprint Genetic drift. On being a medical geneticist
    Eduardo E Castilla
    ECLAMC, Genetica, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet A 138:197-8. 2005
  8. ncbi request reprint Associated anomalies in individuals with polydactyly
    E E Castilla
    ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet 80:459-65. 1998
  9. ncbi request reprint Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America
    Eduardo E Castilla
    ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, CP 926, Rio de Janeiro, RJ 20001 970 Brazil
    Am J Med Genet A 123:123-8. 2003
  10. pmc Economic activity and congenital anomalies: an ecologic study in Argentina. ECLAMC ECOTERAT Group
    E E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects, Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    Environ Health Perspect 108:193-7. 2000

Collaborators

Detail Information

Publications40

  1. doi request reprint Sirenomelia and cyclopia cluster in Cali, Colombia
    Eduardo E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, FIOCRUZ Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    Am J Med Genet A 146:2626-36. 2008
    ..The time-space cluster is nonrandom for sirenomelia, and possibly random for cyclopia. The polluting landfill remains as a possible etiological factor...
  2. doi request reprint Brazil: public health genomics
    E E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, at FIOCRUZ Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    Public Health Genomics 12:53-8. 2009
    ..Continuity of this proactive attitude of the government in the area of genomics in public health is desired...
  3. pmc The effect of systematic pediatric care on neonatal mortality and hospitalizations of infants born with oral clefts
    George L Wehby
    Department of Pediatrics, University of Iowa, Iowa City, IA, USA
    BMC Pediatr 11:121. 2011
    ..This study aimed at assessing the effects of systematic pediatric care on neonatal mortality and hospitalizations of infants with cleft lip and/or palate (CL/P) in South America...
  4. pmc Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149]
    George L Wehby
    Department of Health Management and Policy, University of Iowa, Iowa City, USA
    BMC Pediatr 6:9. 2006
    ..As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally...
  5. doi request reprint Very rare defects: what can we learn?
    Eduardo E Castilla
    Estudio Colaborativo Latino Americano de Malformaciones Congénitas Laboratorio de Epidemiologia de Malformações Congènitas, Instituto Oswaldo Cruz Rio de Janeiro, RJ, Brazil
    Am J Med Genet C Semin Med Genet 157:252-61. 2011
    ..6) ICD coding system is insufficient. (7) Surveillance programs should be a valuable source of information on exposures to risk factors during pregnancy...
  6. doi request reprint Gastroschisis: international epidemiology and public health perspectives
    Eduardo E Castilla
    ECLAMC GENETICA FIOCRUZ, Av Brasil 4365, Pav 26, sala 617, 21045 900 Rio de Janeiro, Brazil
    Am J Med Genet C Semin Med Genet 148:162-79. 2008
    ..The increasing prevalence of gastroschisis combined with improved medical techniques to reduce morbidity and mortality are also increasing the burden and costs of this anomaly on health systems...
  7. ncbi request reprint Genetic drift. On being a medical geneticist
    Eduardo E Castilla
    ECLAMC, Genetica, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet A 138:197-8. 2005
  8. ncbi request reprint Associated anomalies in individuals with polydactyly
    E E Castilla
    ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet 80:459-65. 1998
    ..Down syndrome is strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. The latter could not be explained by maternal age differences among Black and non-Black case sub-sets...
  9. ncbi request reprint Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America
    Eduardo E Castilla
    ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, CP 926, Rio de Janeiro, RJ 20001 970 Brazil
    Am J Med Genet A 123:123-8. 2003
    ....
  10. pmc Economic activity and congenital anomalies: an ecologic study in Argentina. ECLAMC ECOTERAT Group
    E E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects, Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    Environ Health Perspect 108:193-7. 2000
    ..These observations are consistent with previous reports on occupational exposure, and their further investigation by means of case-control studies is recommended...
  11. ncbi request reprint Epidemiological methods to assess the correlation between industrial contaminants and rates of congenital anomalies
    E E Castilla
    ECLAMC Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Center for the Prevention of Birth Defects ECLAMC at IMBICE Instituto Multidisciplinario de Biologia Celular, La Plata, Argentina
    Mutat Res 489:123-45. 2001
    ....
  12. ncbi request reprint Thumb/hallux duplication and preaxial polydactyly type I
    I M Orioli
    ECLAMC Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects at Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil
    Am J Med Genet 82:219-24. 1999
    ....
  13. ncbi request reprint Lack of evidence of a major gene acting on postaxial polydactyly in South America
    M F Feitosa
    Departamento de Genetica, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet 80:466-72. 1998
    ....
  14. ncbi request reprint Inheritance of cleft palate in South America: evidence for a major locus recessive
    A R Vieira
    Latin American Collaborative Study of Congenital Malformations ECLAMC, Department of Genetics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil
    Orthod Craniofac Res 6:83-7. 2003
    ..Determine the model of inheritance of non-syndromic cleft palate in humans...
  15. pmc Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
    PLoS Genet 1:e64. 2005
    ..This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations...
  16. ncbi request reprint Clinical epidemiologic study of holoprosencephaly in South America
    Ieda M Orioli
    Estudo Colaborativo Latino Americano de Malformações Congênitas ECLAMC at Departamento de Genética, Curso de Pós Graduação em Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
    Am J Med Genet A 143:3088-99. 2007
    ..Cyclopia was not associated with oral clefts; 6 of 8 cases of ethmocephaly had cleft palate; 6 of 20 cases of cebocephaly had oral clefts; 4 of 20 cases had premaxillary agenesis; and 2 of 20 cases had cleft palate...
  17. ncbi request reprint Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population
    Ieda M Orioli
    Estudo Colaborativo Latino Americano de Malformações Congênitas ECLAMC at Departamento de Genética, Curso de Pós Graduação em Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
    Am J Med Genet A 118:135-45. 2003
    ..The observed geographic difference in birth prevalence could be a useful indication to study specific genetic and environmental candidate factors to ADAM susceptibility...
  18. ncbi request reprint Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects
    Alexandre R Vieira
    Am J Med Genet A 135:220-3. 2005
  19. ncbi request reprint Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile
    Jorge S Lopez-Camelo
    Estudo Colaborativo Latino Americano de Malformações Congênitas, ECLAMC at IMBICE, Instituto Multidisciplinario de Biologia Celular, La Plata, Argentina
    Am J Med Genet A 135:120-5. 2005
    ..Within the methodological constraints of this study we conclude that the birth prevalence rates for both spina bifida and anencephaly decreased as a result of folic acid fortification, without interference of decreasing secular trends...
  20. doi request reprint Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases
    Seth M Weinberg
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15090, USA
    Am J Med Genet A 146:1670-5. 2008
    ..Such diagnostic errors could have important implications for recurrence risk estimation and studies aimed at discovering etiology. (c) 2008 Wiley-Liss, Inc...
  21. ncbi request reprint Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Am J Med Genet A 129:149-55. 2004
    ..Therefore, use of the term "acrorenal syndrome" should be avoided...
  22. pmc Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey
    Marcia R Amorim
    ECLAMC at Departamento de Genética, Universidade Federal do Rio de Janeiro, Caixa Postal 68 011, 21944 970, Rio de Janeiro, Brazil
    BMJ 328:84. 2004
    ..To verify whether Down's syndrome and neural tube defects arise more often in the same family than expected by chance...
  23. doi request reprint Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations
    Emanuele Leoncini
    Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy
    Birth Defects Res A Clin Mol Teratol 82:585-91. 2008
    ....
  24. ncbi request reprint Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America
    Alexandre R Vieira
    Department of Oral Biology and Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA
    Am J Med Genet A 143:2075-8. 2007
  25. ncbi request reprint Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: a meta-analysis
    Marcia R Amorim
    Estudo Colaborativo Latino Americano de Malformações Congênitas ECLAMC at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
    Am J Med Genet A 143:1726-32. 2007
    ....
  26. ncbi request reprint Single median maxillary central incisor: new data and mutation review
    Kenia B El-Jaick
    Estudo Latino Americano de Malformações Congênitas, Departamento de Genetica, Universidade Federal do Rio de Janeiro, Brazil
    Birth Defects Res A Clin Mol Teratol 79:573-80. 2007
    ..Families with SMMCI, without HPE cases, are difficult to counsel for the risk of HPE in future generations because the same midline defects described as part of the "SMMCI syndrome" can also be part of the HPE spectrum...
  27. ncbi request reprint Risk for gastroschisis in primigravidity, length of sexual cohabitation, and change in paternity
    Monica Rittler
    Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects ECLAMC at Hospital Materno Infantil Ramón Sardá, Buenos Aires, Argentina
    Birth Defects Res A Clin Mol Teratol 79:483-7. 2007
    ....
  28. ncbi request reprint Gastroschisis and associated defects: an international study
    Pierpaolo Mastroiacovo
    Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
    Am J Med Genet A 143:660-71. 2007
    ..An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review...
  29. pmc PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations
    Joseph R Avila
    Department of Cytokine Biology, The Forsyth Institute and Department of Developmental Biology, Harvard School of Dental Medicine, Boston, Massachusetts, USA
    Am J Med Genet A 140:2562-70. 2006
    ..Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face...
  30. ncbi request reprint Sex ratio and associated risk factors for 50 congenital anomaly types: clues for causal heterogeneity
    Monica Rittler
    Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects ECLAMC at Hospital Materno Infantil Ramón Sardá, Buenos Aires, Argentina
    Birth Defects Res A Clin Mol Teratol 70:13-9. 2004
    ..The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly underlying causes of birth defects...
  31. ncbi request reprint Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)
    Karin Kallen
    Tornblad Institute, University of Lund, Biskopsgatan 7, 223 62 Lund, Sweden
    Am J Med Genet A 127:26-34. 2004
    ..An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development...
  32. ncbi request reprint Can amputated digits point to clues about etiology?
    Marcia Gonçalves Ribeiro
    Am J Med Genet A 128:93-4. 2004
  33. ncbi request reprint Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    Theresa M Zucchero
    University of Iowa, Iowa City 52242, USA
    N Engl J Med 351:769-80. 2004
    ..We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene...
  34. ncbi request reprint ECLAMC: the Latin-American collaborative study of congenital malformations
    Eduardo E Castilla
    ECLAMC, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil, Argentina
    Community Genet 7:76-94. 2004
    ..ECLAMC can be defined as a continental network of persons interested in research and prevention of birth defects...
  35. ncbi request reprint Monitoring congenital rubella embryopathy
    Monica Rittler
    Latin American Collaborative Study of Congenital Malformations, World Health Organization Collaborating Centre for the Prevention of Birth Defects at Hospital Materno Infantil Ramón Sardá, Buenos Aires, Argentina
    Birth Defects Res A Clin Mol Teratol 70:939-43. 2004
    ..The aims of the present work were to search for the best phenotype to be used as a sentinel for CRS in a large series of malformed newborns and to propose a CRS surveillance system, based only on clinical data...
  36. ncbi request reprint Risks of congenital anomalies in large for gestational age infants
    Pablo Lapunzina
    ECLAMC Estudio Colaborativo Latino Americano de Malformaciones Congénitas at Fiocruz, Rio de Janeiro, Brazil
    J Pediatr 140:200-4. 2002
    ..To evaluate the association between large for gestational age (LGA) and demographic and medical risk factors as well as specific types of congenital anomalies...
  37. pmc The incidence of gastroschisis: research urgently needs resources
    Pierpaolo Mastroiacovo
    BMJ 332:423-4. 2006
  38. ncbi request reprint Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population
    Ieda M Orioli
    Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet 108:12-5. 2002
    ..Thus, we did not identify any clearly disease-causing mutation in SHH in these patients, and conclude that SHH mutations are not a frequent cause of isolated oral clefts in humans...
  39. ncbi request reprint Intrauterine growth restriction in like-sex twins discordant for structural defects
    Christina D Chambers
    Department of Pediatrics, Division of Dysmorphology and Teratology, University of California San Diego School of Medicine, La Jolla, 92103, USA
    Birth Defects Res A Clin Mol Teratol 76:246-8. 2006
    ....
  40. ncbi request reprint SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor
    Kenia Balbi El-Jaick
    Am J Med Genet A 136:345. 2005