anencephaly

Summary

Summary: A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)

Top Publications

  1. ncbi [Maternal age and neural tube defects: evidence for a greater effect in spina bifida than in anencephaly]
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Rev Med Chil 133:62-70. 2005
  2. ncbi Prevalence of neural tube defects in economically and socially deprived area of China
    Jie Liu
    Department of Chemistry and Open Laboratory of Chemical Biology, Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Pokfulam Road, Hong Kong, China
    Childs Nerv Syst 23:1119-24. 2007
  3. ncbi Spina bifida and anencephaly prevalence--United States, 1991-2001
    T J Mathews
    MMWR Recomm Rep 51:9-11. 2002
  4. pmc Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly
    J Chen
    The Rockefeller University, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 93:6275-9. 1996
  5. ncbi Parental occupational exposure to organic solvents and anencephaly in Mexico
    C Aguilar-Garduño
    Andalusian School of Public Health, Campus Universitario de La Cartuja, Cuesta del Observatorio, 4, 18080 Granada, Spain
    Occup Environ Med 67:32-7. 2010
  6. ncbi Anencephaly does not cause structural alterations in the fetal penis
    João P M de Carvalho
    Department of Anatomy, Rio de Janeiro State University, Rio de Janeiro, Rio de Janeiro, Brazil
    J Sex Med 9:735-42. 2012
  7. ncbi Do assisted conception twins have an increased risk for anencephaly?
    I Ben-Ami
    Department of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Affiliated with Sackler School of Medicine, Tel Aviv University, Zerifin 70300, Israel
    Hum Reprod 26:3466-71. 2011
  8. ncbi Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968-2003
    Lilah M Besser
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Birth Defects Res A Clin Mol Teratol 79:730-6. 2007
  9. ncbi Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephaly
    Akihiro Matsumoto
    Department of Anatomy, Shimane Medical University, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    Anat Embryol (Berl) 205:7-18. 2002
  10. ncbi Update on prevention of folic acid-preventable spina bifida and anencephaly
    Karen N Bell
    Department of Epidemiology, Rollins School of Public Health of Emory University, Gloucester, Massachusetts, USA
    Birth Defects Res A Clin Mol Teratol 85:102-7. 2009

Research Grants

  1. Genetic Predisposition & Prevention of Neural Tube Defects (NTDs)
    MARGARET ELIZABETH contact ROSS; Fiscal Year: 2010
  2. Using shared mechanisms of morphogenesis to study neural tube defects
    JESSICA LEE SULLIVAN-BROWN; Fiscal Year: 2012
  3. Roles of microRNAs during vertebrate brain morphogenesis
    Carter M Takacs; Fiscal Year: 2012
  4. MECHANICS OF EARLY BRAIN AND EYE DEVELOPMENT
    Larry A Taber; Fiscal Year: 2013
  5. Novel Ubiquitin Dependent Pathways Regulating Neural Tube Closure &Placentation
    Irene E Zohn; Fiscal Year: 2013
  6. Function of intramembrane aspartic protease
    Evgeny I Rogaev; Fiscal Year: 2012
  7. Iron Deficiency and Neural Tube Defects
    Irene E Zohn; Fiscal Year: 2013
  8. Function of Mesendoderm in Closure of the Anterior Neural Tube
    Jennifer O Liang; Fiscal Year: 2012
  9. Risk Genes and Environment Interactions in NTDs
    MARGARET ELIZABETH ROSS; Fiscal Year: 2013
  10. MOUSE MODELS FOR NEURAL TUBE DEFECTS
    Muriel T Davisson; Fiscal Year: 2009

Detail Information

Publications238 found, 100 shown here

  1. ncbi [Maternal age and neural tube defects: evidence for a greater effect in spina bifida than in anencephaly]
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Rev Med Chil 133:62-70. 2005
    Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida.
  2. ncbi Prevalence of neural tube defects in economically and socially deprived area of China
    Jie Liu
    Department of Chemistry and Open Laboratory of Chemical Biology, Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Pokfulam Road, Hong Kong, China
    Childs Nerv Syst 23:1119-24. 2007
    ..This paper aims to understand the situation and epidemiology trend of neural tube defects in Guizhou province, China from 1996 to 2004...
  3. ncbi Spina bifida and anencephaly prevalence--United States, 1991-2001
    T J Mathews
    MMWR Recomm Rep 51:9-11. 2002
    Spina bifida and anencephaly are serious birth defects...
  4. pmc Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly
    J Chen
    The Rockefeller University, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 93:6275-9. 1996
    ..that deletion of the MacMARCKS gene prevents cranial neural tube closure in the developing brain, resulting in anencephaly. This suggests a central role for MacMARCKS and the PKC signal transduction pathway in the folding of the ..
  5. ncbi Parental occupational exposure to organic solvents and anencephaly in Mexico
    C Aguilar-Garduño
    Andalusian School of Public Health, Campus Universitario de La Cartuja, Cuesta del Observatorio, 4, 18080 Granada, Spain
    Occup Environ Med 67:32-7. 2010
    To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico.
  6. ncbi Anencephaly does not cause structural alterations in the fetal penis
    João P M de Carvalho
    Department of Anatomy, Rio de Janeiro State University, Rio de Janeiro, Rio de Janeiro, Brazil
    J Sex Med 9:735-42. 2012
    b>Anencephaly is the most severe neural tube defect in human fetuses. There is an increasing need for tissue replacement in chronic diseases and reconstructive surgeries. Fetal tissues have been used as a substitute for native organs.
  7. ncbi Do assisted conception twins have an increased risk for anencephaly?
    I Ben-Ami
    Department of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Affiliated with Sackler School of Medicine, Tel Aviv University, Zerifin 70300, Israel
    Hum Reprod 26:3466-71. 2011
    The incidence rates of anterior neural tube defects, anencephaly and encephalocele appear increased among twins compared with singletons...
  8. ncbi Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968-2003
    Lilah M Besser
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Birth Defects Res A Clin Mol Teratol 79:730-6. 2007
    The prevalence of anencephaly (AN) and spina bifida (SB) was declining long before fortification of enriched grains in the U.S. with folic acid...
  9. ncbi Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephaly
    Akihiro Matsumoto
    Department of Anatomy, Shimane Medical University, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    Anat Embryol (Berl) 205:7-18. 2002
    b>Anencephaly has been suggested to develop from exencephaly; however, there is little direct experimental evidence to support this, and the mechanism of transformation remains unclear...
  10. ncbi Update on prevention of folic acid-preventable spina bifida and anencephaly
    Karen N Bell
    Department of Epidemiology, Rollins School of Public Health of Emory University, Gloucester, Massachusetts, USA
    Birth Defects Res A Clin Mol Teratol 85:102-7. 2009
    ..Folic acid prevents most cases of spina bifida and anencephaly by raising serum folate levels among women capable of bearing children, as does encouraging women to consume ..
  11. ncbi Reviewing old concepts at the start of a new millenium: growth restriction, adrenal hypoplasia, and thymomegaly in human anencephaly
    Nancy Mazzitelli
    Unit of Pathology, Hospital Materno Infantil Ramon Sarda, School of Medicine, University of Buenos Aires, Buenos Aires, Argentina
    Teratology 66:105-14. 2002
    b>Anencephaly has been associated frequently with intrauterine growth retardation (IUGR), consistently with adrenal hypoplasia, and occasionally with an enlarged thymus...
  12. ncbi Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene
    Q Zhao
    Department of Molecular Genetics, University of Texas, Houston 77030, USA
    Nat Genet 13:275-83. 1996
    ..Prenatal treatment of Cart1 homozygous mutants with folic acid suppresses the development of the acrania/meroanencephaly phenotype...
  13. ncbi Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico
    Julia Blanco Muñoz
    Department of Environmental Health, National Institute of Public Health, Cuernavaca, CP 62508, Mexico
    Mol Hum Reprod 13:419-24. 2007
    ..We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association ..
  14. ncbi FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
    S Amorosi
    Department of Pediatrics, Federico II University of Naples, Naples, Italy
    Clin Genet 73:380-4. 2008
    ..a human fetus homozygous for a mutation in FOXN1 gene who lacked the thymus and also had abnormal skin, anencephaly and spina bifida. Moreover, we found that FOXN1 gene is expressed in mouse developing choroid plexus...
  15. ncbi Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly
    M Jaquier
    BJOG 113:951-3. 2006
    ..of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy...
  16. pmc Socioeconomic factors and the risk of anencephaly in a Mexican population: a case-control study
    Julia Blanco Munoz
    Instituto Nacional de Salud Publica National Institute of Public Health, Cuernavaca, Morelos, Mexico
    Public Health Rep 120:39-45. 2005
    The study was designed to evaluate the association between socioeconomic level (as measured by maternal education, maternal occupation, and monthly family income) and anencephaly.
  17. ncbi Anencephaly: structural characterization of gangliosides in defined brain regions
    Z Vukelic
    Laboratory for Biomedical Analysis, Institute for Medical Physics and Biophysics, University of Munster, Germany
    Biol Chem 382:259-74. 2001
    ..It can be demonstrated that the anencephalic cerebral remnant, as a primitive brain structure, represents a naturally-occurring model to study the ganglioside involvement in induction of aberrant brain development...
  18. ncbi Monoamniotic twin pregnancy discordant for lethal open cranial defect: management dilemmas
    Waldo Sepulveda
    Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, San Jose Hospital, University of Santiago de Chile, Santiago, Chile
    Prenat Diagn 31:578-82. 2011
    ..To report the sonographic findings, prenatal courses, and management options in four cases of monoamniotic twin pregnancy complicated by a discordant, lethal open cranial vault defect...
  19. ncbi Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: an example using anencephaly and spina bifida
    Philip J Lupo
    Division of Epidemiology and Disease Control, University of Texas School of Public Health, Houston, Texas, USA
    Birth Defects Res A Clin Mol Teratol 88:701-5. 2010
    ..Although the validity of using composite phenotypes has been questioned, formal evaluations of the underlying assumption of effect homogeneity across component phenotypes have not been conducted...
  20. ncbi The natural history of anencephaly
    Nidaa Obeidi
    Anu Research Centre, Department of Obstetrics and Gynaecology, University College Cork, Cork University Maternity Hospital, Ireland
    Prenat Diagn 30:357-60. 2010
    Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited...
  21. ncbi Anencephaly with holoprosencephalic facies due to ring chromosome 18
    L M Bird
    Children s Hospital, Division of Dysmorphology Genetics, San Diego, CA, USA
    Clin Dysmorphol 6:351-8. 1997
    ..Although the association of anencephaly and holoprosencephalic facies is well established, this is the first instance of an accompanying karyotypic ..
  22. ncbi Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature
    K I Lim
    Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, British Columbia, Canada
    Ultrasound Obstet Gynecol 26:188-93. 2005
    Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins...
  23. ncbi Lithium-associated anencephaly
    Sandeep Grover
    Can J Psychiatry 50:185-6. 2005
  24. ncbi MicroRNAs: potential regulators involved in human anencephaly
    Zhiping Zhang
    Graduate School of Peking Union Medical College, Beijing, China
    Int J Biochem Cell Biol 42:367-74. 2010
    ..In this study, we show the presence of a specific miRNA expression profile from tissues of fetuses with anencephaly, one of the most severe forms of NTDs. Furthermore, we map the target genes of these miRNAs in the human genome...
  25. ncbi Anencephaly in Singapore: a ten-year series 1993-2002
    K B L Tan
    National Birth Defect Registry, Ministry of Health Singapore, c o KK Women s and Children s Hospital, Level 7, Children s Tower, 100 Bukit Timah Road, Singapore 229899
    Singapore Med J 48:12-5. 2007
    b>Anencephaly is a neural tube defect that is incompatible with life. Previous studies have suggested that there is a racial predilection for this condition. However, local studies have not shown a statistical difference between the races...
  26. ncbi Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States
    Laura J Williams
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Teratology 66:33-9. 2002
    ..We sought to determine the prevalences of spina bifida and anencephaly during the transition to mandatory folic acid fortification.
  27. ncbi Decline in the prevalence of spina bifida and anencephaly by race/ethnicity: 1995-2002
    Laura J Williams
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Pediatrics 116:580-6. 2005
    ..Fortification has been shown to result in an important decline in the prevalence of spina bifida and anencephaly in the general US population; however, fortification's impact on specific racial/ethnic groups has not been ..
  28. ncbi Trends in the postfortification prevalence of spina bifida and anencephaly in the United States
    Sheree L Boulet
    National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia 30333, USA
    Birth Defects Res A Clin Mol Teratol 82:527-32. 2008
    ....
  29. ncbi The prevalence and predictors of anencephaly and spina bifida in Texas
    Mark A Canfield
    Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA
    Paediatr Perinat Epidemiol 23:41-50. 2009
    ..This study describes the occurrence and the predictors of neural tube defects (anencephaly and spina bifida) in Texas between 1999 and 2003...
  30. ncbi Prenatal management of anencephaly
    Rebecca J Cook
    Faculty of Law, Faculty of Medicine and Joint Centre for Bioethics, University of Toronto, Toronto, Canada
    Int J Gynaecol Obstet 102:304-8. 2008
    ..Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies...
  31. ncbi Anencephaly and spina bifida among Hispanics: maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study
    Mark A Canfield
    Birth Defects Epidemiology and Surveillance Branch, MC 1964, Texas Department of State Health Services, P O Box 149347, Austin, TX 78714 9347, USA
    Birth Defects Res A Clin Mol Teratol 85:637-46. 2009
    ..Study for expected delivery dates from October 1997 through 2003, to determine whether the increased risk in anencephaly and spina bifida (neural tube defects (NTDs)) in Hispanics was explained by selected sociodemographic, ..
  32. ncbi Birth order and neural tube defects: a reappraisal
    Alexandre R Vieira
    Department of Pediatrics, ML 2182, The University of Iowa, Iowa City, IA 52242, USA
    J Neurol Sci 217:65-72. 2004
    ..Children with higher birth order are more likely to have spina bifida but not anencephaly. This same effect was also seen for all NTDs combined, which probably reflects the association with spina ..
  33. ncbi Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China
    Zhiwen Li
    Institute of Reproductive and Child Health, Peking University Health Science Center, People s Republic of China
    Birth Defects Res A Clin Mol Teratol 76:237-40. 2006
    ..In the past, northern China's Shanxi Province has reported the highest incidence of neural tube defects (NTDs) in the world. However, little is known about the epidemiology of NTDs in this area in recent years...
  34. ncbi Anomalies of cerebral structures in acranial neonates
    M Dambska
    Department of Developmental Neuropathology, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Clin Neuropathol 22:291-5. 2003
    Eleven cases of newborns with acrania and macroscopically diagnosed anencephaly were neuropathologically examined. They presented changes in which 1 group corresponded to the diagnosis of aprosencephaly...
  35. ncbi First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence
    Daniel Cafici
    Ultrasound and Prenatal Diagnosis Unit, Ecodiagnostico Alem, Buenos Aires, Argentina
    J Ultrasound Med 22:1075-9; quiz 1080-1. 2003
    ..To describe the association between echogenic amniotic fluid and first-trimester fetal acrania...
  36. ncbi Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature
    B Doray
    Laboratoire de Cytogenetique, Hopital de Hautepierre, Strasbourg, France
    Genet Couns 14:165-72. 2003
    ..Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of ..
  37. ncbi Epidemiology of neural tube defects
    Lauren Frey
    Department of Neurology, G H Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Epilepsia 44:4-13. 2003
    ..The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected ..
  38. ncbi Comparing the observed and predicted effectiveness of folic acid fortification in preventing neural tube defects
    G E Palomaki
    J Med Screen 10:52-3. 2003
  39. ncbi Neural tube defects and associated anomalies in a fetal and perinatal autopsy series
    Ljudmilla A G Nielsen
    Department of Pathology, The Centre of Diagnostic Investigations, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    APMIS 114:239-46. 2006
    ..Ninety-seven NTD cases were found (4.9%): Spina bifida (38 cases), cephalocele (17 cases) and anencephaly (42 cases). 63% of NTD cases had associated morphologic anomalies...
  40. ncbi Provide the citizens of New Zealand the miracle of folic acid fortification
    Godfrey Oakley
    Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia 30322, USA
    N Z Med J 116:U302. 2003
  41. ncbi Neural tube defects associated with maternal periconceptional dietary intake of simple sugars and glycemic index
    Gary M Shaw
    March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
    Am J Clin Nutr 78:972-8. 2003
    ..The interdependence of these factors suggests a common pathogenesis via altered glycemic control and insulin demand...
  42. ncbi A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation
    Anne Klusmann
    Department of General Paediatrics, Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Acta Paediatr 94:1538-42. 2005
    ..In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed...
  43. ncbi Analysis of seasonal variation of birth defects in Atlanta
    Csaba Siffel
    Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    Birth Defects Res A Clin Mol Teratol 73:655-62. 2005
    ..This study examines possible seasonal variation in the prevalence of selected birth defects in a defined study population using graphical displays and three statistical methods...
  44. ncbi Early delivery of a fetus with anencephaly
    Norman Ford
    Caroline Chisholm Centre for Health Ethics, East Melbourne, Victoria, Australia
    Ethics Medics 28:1-4. 2003
  45. ncbi Malformations of the cranium, vertebral column, and related central nervous system: morphologic heterogeneity may indicate biological diversity
    Belinda R Davies
    Department of Pathology, General Hospital of Mexico, Mexico City, Mexico
    Birth Defects Res A Clin Mol Teratol 67:563-71. 2003
    ..We conducted an autopsy study of neural tube defects (NTDs) to determine whether there is a relation between the localization of the lesion and the sex of the fetus or infant, and the presence of other malformations...
  46. ncbi Understanding the increased risk of neural tube defect-affected pregnancies among Mexico-born women in California: immigration and anthropometric factors
    Ellen M Velie
    Department of Epidemiology, Michigan State University, East Lansing 48824, USA
    Paediatr Perinat Epidemiol 20:219-30. 2006
    ..Findings indicate that recent Mexican immigrants have a sevenfold increased risk for NTDs. Maternal BMI and height contributed very little, and inadequate weight gain contributed modestly to the NTD risk disparity for Mexican immigrants...
  47. ncbi Acardius acephalus as one of triplets
    M Harma
    Minerva Ginecol 56:493-4. 2004
  48. ncbi [Monochorionic, diamniotic triplet pregnancy complicated by twin reversed arterial perfusion sequence. Postpartum autopsy of placenta and acardiac fetus]
    Witold Malinowski
    Katedra Perinatologii Instytutu Kształcenia Medycznego Akademii Swietokrzyskiej, Kiclcach
    Ginekol Pol 75:863-8. 2004
    ..Reversed arterial perfusion sequence was confirmed with Doppler sonography. Postpartum autopsy examination of placenta and acardiac fetus (acardius anceps) was detailed described...
  49. ncbi Scientific evidence supporting folic acid fortification of flour in Australia and New Zealand
    Godfrey P Oakley
    Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia 30322, USA
    Birth Defects Res A Clin Mol Teratol 70:838-41. 2004
    ..of flour with folic acid is a safe, sustainable, and cost-effective approach for preventing spina bifida and anencephaly, and it is likely to confer multiple health benefits to the adult population...
  50. ncbi [Prenatal ultrasound diagnosis of central nervous system anomalies]
    H Takeuchi
    Department of Obstetrics and Genecology, Juntendo University Urayasu Hospital, Chiba
    No To Hattatsu 23:183-8. 1991
    ..For instance, anencephaly should be detected for its lethal prognosis. Hydrocephalus has a certain possibility for intrauterine treatment...
  51. ncbi Neural tube defects: is a decreasing prevalence associated with a decrease in severity?
    Amanda M Cotter
    Coombe Women s Hospital, Dublin 8, Ireland
    Eur J Obstet Gynecol Reprod Biol 119:161-3. 2005
    ....
  52. pmc Lack of serologic evidence for an association between Cache Valley Virus infection and anencephaly and other neural tube defects in Texas
    J F Edwards
    Texas A and M University, College Station, USA
    Emerg Infect Dis 3:195-7. 1997
    ..investigation followed a 1990 and 1991 south Texas outbreak of neural tube defects with a high prevalence of anencephaly and the demonstration in 1987 that in utero infection by CVV was the cause of outbreaks of central nervous ..
  53. ncbi Meroacrania
    R Shane Tubbs
    Department of Cell Biology, Pediatric Neurosurgery, University of Alabama at Birmingham, Birmingham, Ala, USA
    Pediatr Neurosurg 40:95-6. 2004
  54. ncbi Folic acid and the decline in neural tube defects in Arkansas
    Bridget S Mosley
    J Ark Med Soc 103:247-50. 2007
    ..Efforts to encourage folic acid consumption should continue to target Arkansas women. NTDs include anencephaly and spina bifida...
  55. ncbi Effect of folic acid fortification on prevalence of neural tube defects in Rhode Island
    Geralyn Lambert-Messerlian
    J Med Screen 11:106-7. 2004
  56. ncbi The Food and Drug Administration must require the addition of more folic acid in "enriched" flour and other grains
    Robert L Brent
    Department of Pediatrics, Thomas Jefferson University, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Pediatrics 116:753-5. 2005
  57. ncbi Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound
    W Sepulveda
    Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile
    Ultrasound Obstet Gynecol 23:352-6. 2004
    ..The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated...
  58. ncbi Are the recommendations on the prevention of neural tube defects working?
    C Stoll
    Laboratoire de Genetique Medicale, Faculte de Medecine, 11, rue Humann, 67085 Strasbourg Cedex, France
    Eur J Med Genet 49:461-5. 2006
    ..Recommendations alone did not influence trends in NTD in our country up to 11 years after the confirmation of the effectiveness of folic acid in clinical trials. New strategies are needed...
  59. ncbi [Upper and lower neural tube defects: prevalence and association with illnesses and drugs]
    J Jesús Pérez-Molina
    División de Pediatría, Hospital Civil de Guadalajara Dr Juan I Menchaca, Departamento de Clínicas de la Reproducción Humana y Crecimiento infantil, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco
    Ginecol Obstet Mex 70:443-50. 2002
    ..To determine the prevalence of upper and lower neural tube defects and identify its association with the exposure to illnesses and drugs during pregnancy...
  60. ncbi Are encephaloceles neural tube defects?
    Courtney A Rowland
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Rd, Mailstop E 86, Atlanta, Georgia 30333, USA
    Pediatrics 118:916-23. 2006
    ..Encephalocele is classified as a neural tube defect, but questions have been raised regarding whether its epidemiological characteristics are similar to those of other neural tube defects...
  61. ncbi NTD prevalences in central California before and after folic acid fortification
    Brian H Chen
    March of Dimes Foundation, California Research Division, Oakland, California 94609, USA
    Birth Defects Res A Clin Mol Teratol 82:547-52. 2008
    ..This study examined whether the declining prefortification (1989-1996) NTD prevalences continued into the postfortification period (1998-2003) in selected California counties...
  62. ncbi Cost-effectiveness of a folic acid fortification program in Chile
    Adolfo Llanos
    Instituto de Nutricion y Tecnologia de los Alimentos INTA, Universidad de Chile, Chile
    Health Policy 83:295-303. 2007
    ..In Chile, fortification of wheat flour with folic acid has resulted in significant reduction in the risk of anencephaly and spina bifida. We investigated the cost-effectiveness implications of this policy.
  63. ncbi [Effects of folic acid fortification in the rates of malformations at birth in Chile]
    Julio Nazer H
    Unidad de Neonatologia, Maternidad, Hospital Clinico, Universidad de Chile, Escuela de Salud Publica, Santiago, Chile
    Rev Med Chil 135:198-204. 2007
    ..The effects of folic acid fortification on neural tube defects is well known. Other reports show a beneficial effect of the fortification on orofacial clefts, urinary malformations and defects caused by limb reduction...
  64. ncbi [Risk of recurrence in major craniospinal malformations between 1976 and 2005]
    Jozsef Gabor Joo
    Semmelweis Egyetem, Általános Orvostudományi Kar, I Szülészeti és Nogyógyászati Klinika, Budapest
    Orv Hetil 148:689-95. 2007
    ..Craniospinal malformations are among the commonest developmental disorders. Due to its incidence the knowledge of the risk of recurrence is very important not only for the geneticist but also for the married couples...
  65. ncbi Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study
    L E Martínez de Villarreal
    Departamento de Patologia, Unidad de Genética y Defectos Congénitos, Facultad de Medicina, Universidad Autónoma de Nuevo León UANL, Monterrey, Nuevo Leon, Mexico
    Arch Med Res 32:277-82. 2001
    ..Neural tube defects (NTDs) have been associated with biochemical factors involved in the conversion of homocysteine to methionine as folate deficiency and the mutation 677T in the N(5),N(10)-methylenetetrahydrofolate reductase gene (MTHFR)...
  66. ncbi Acardiac twin fetus with severe hydrops fetalis and bilateral talipes varus deformity
    Mary Lou C Thelmo
    Department of Obstetrics and Gynaecology, Kern Medical Center UCLA, Bakersfield, California 93305, USA
    Fetal Pediatr Pathol 26:235-42. 2007
    ..At the time of this report, 5 months postpartum, the neonate is growing and developing normally. To our knowledge, this is the first report of severe hydrops fetalis and talipes varus deformity in an acardiac twin...
  67. ncbi Embryology of neural tube defects: information provided by associated malformations
    A S Cabaret
    Department of Obstetrics and Gynecology, University Hospital, Rennes, France
    Prenat Diagn 27:738-42. 2007
    ..To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations...
  68. ncbi Associated malformations in cases with neural tube defects
    C Stoll
    Génétique Médicale, Faculte de Medecine, Strasbourg, France
    Genet Couns 18:209-15. 2007
    ..Associated malformations were more frequent in infants who had encephalocele (37.5 %) than in infants with anencephaly (11.8 %) or infants with spina bifida (23.7 %)...
  69. ncbi A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects
    K Stegmann
    , , 35033 Marburg, Germany
    Teratology 63:167-75. 2001
    ..the coding sequences of TFAP2alpha and MSX2 was performed for 204 nonsyndromic NTD patients including cases of anencephaly (n = 10), encephalocele (n = 8), and spina bifida aperta, SBA (n = 183)...
  70. ncbi [Fetal malformations diagnosed using ultrasonography during tri-test. A retrospective study of 1633 fetuses]
    F Pepe
    Regione Sicilia, , Catania, Italy
    Minerva Ginecol 53:87-91. 2001
    ..In our study some malformations were not diagnosed previously because this was the first scan (1 case of anencephaly), or because the abnormality was presumably not present in earlier tests (bone dysplasia at early stage of ..
  71. ncbi [Practice of pharmaceutical care based on clinical pharmaceutical research in a community pharmacy]
    Hiroki Sato
    Pharma Daiwa Yuge Pharmacy, Tatutamachi, Kumamoto City, Japan
    Yakugaku Zasshi 127:1781-7. 2007
    ....
  72. ncbi Trends in neural tube defects in Western Australia
    Carol Bower
    Birth Defects Registry of Western Australia, Centre for Women s Health and Centre for Child Health Research, The University of Western Australia
    Aust N Z J Public Health 26:150-1. 2002
    ..To report on trends in neural tube defects in Western Australia, in relation to folate promotion, periconceptional use of folic acid supplements and food fortification with folate...
  73. ncbi [Anencephaly at 20 weeks gestation. What is the optimal gestational age for early diagnosis?]
    M Porath
    Klinik fur Geburtsmedizin, Charite, Campus Virchow Klinikum, Berlin, Germany
    Z Geburtshilfe Neonatol 206:114-8. 2002
    b>Anencephaly is a lethal defect resulting from a disturbed closure of the neural tube. Prenatal diagnosis during first-trimester-scan is essential but implies pitfalls. Three findings of anencephaly at 20 weeks gestation are reported...
  74. ncbi Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies
    Edda L Rodriguez-Morales
    Department of Pathology and Laboratory Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico
    P R Health Sci J 21:237-40. 2002
    Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is ..
  75. ncbi Folic acid and prevention of spina bifida and anencephaly. 10 years after the U.S. Public Health Service recommendation
    J David Erickson
    MMWR Recomm Rep 51:1-3. 2002
    ..of folic acid/day on an ongoing basis to reduce their risk for having a pregnancy affected by spina bifida and anencephaly (i.e., neural tube defects [NTDs])...
  76. ncbi Decline of neural tube defects cases after a folic acid campaign in Nuevo León, México
    Laura Martínez de Villarreal
    Unidad de Genética y Defectos Congénitos, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, N L Mexico
    Teratology 66:249-56. 2002
    Nuevo León is a state in northeastern Mexico, near the border of Texas. Mean mortality rate from 1996-98 due to anencephaly cases was 0.6/1,000...
  77. ncbi Tracking the prevention of folic acid-preventable spina bifida and anencephaly
    Karen N Bell
    Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia 30322, USA
    Birth Defects Res A Clin Mol Teratol 76:654-7. 2006
    The fortification of wheat flour with folic acid prevents most cases of spina bifida and anencephaly by raising serum folate levels among women capable of bearing children, as does encouraging women to consume folic acid supplements ..
  78. ncbi [Effect of flour folic acid fortification on the incidence of cranio encephalic congenital defects]
    Edgardo Corral S
    Unidad de ecografia, Servicio de Obstetricia y Ginecologia, Hospital Regional, Rancagua, Chile
    Rev Med Chil 134:1129-34. 2006
    ..Therefore, the effects of folic acid fortification on the incidence of CECD could be different...
  79. ncbi Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies
    R Douglas Wilson
    Philadelphia PA, USA
    J Obstet Gynaecol Can 29:1003-26. 2007
    ..OPTION: Supplementation with folic acid and vitamins is problematic, since 50% of pregnancies are unplanned, and women's health status may not be optimal when they conceive...
  80. ncbi [Ultrasound prenatal diagnostics of birth defects in the Czech Republic in 1994-2007]
    V Gregor
    Oddĕlení lékarské genetiky, Fakultní Thomayerova nemocnice, Praha
    Ceska Gynekol 73:340-50. 2008
    ..An analysis of prenatal diagnostics efficiency of selected birth defects in the Czech Republic in 2007. Update of 1994-2007 data according to particular defects...
  81. ncbi [Birth defects in the Czech Republic in 2006]
    A Sipek
    Oddĕlení lékarské genetiky, Fakultní Thomayerova nemocni, Praha
    Ceska Gynekol 73:331-40. 2008
    ..An analysis of occurrence of selected birth defects in the Czech Republic in 2006. Comparison of mean incidences of selected birth defects during the 1994-2006 to previous period data...
  82. pmc A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida
    Helen Williams
    19 Elibank Road, Eltham, London, SE9 1QQ, UK
    Cerebrospinal Fluid Res 5:7. 2008
    ..A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described.Any volume increase in the central nervous system can increase venous pressure...
  83. ncbi Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999)
    Pornswan Wasant
    Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 88:S92-9. 2005
    Neural tube defects (NTDs), (including anencephaly, meningomyelocele and encephalocele), are among the most common birth defects, with high associated mortality and morbidity...
  84. ncbi Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies
    T Philipp
    Ludwig Boltzmann Institute of Clinical Gynecology and Obstetrics, Danube Hospital, Langobardenstrasse 122, 1220 Vienna, Austria
    Hum Reprod 18:1724-32. 2003
    ..While chromosomal abnormalities are often the cause of missed abortions, other defects could be involved, which might be screened for by transcervical embryoscopy...
  85. ncbi Risks of selected congenital malformations among offspring of mixed race-ethnicity
    Juan Yang
    March of Dimes Birth Defects Foundation, California Birth Defect Monitoring Program, Berkeley, CA 94710, USA
    Birth Defects Res A Clin Mol Teratol 70:820-4. 2004
    ..Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity...
  86. ncbi Decreasing prevalence of neural tube defects in Utah, 1985-2000
    Marcia Feldkamp
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Teratology 66:S23-8. 2002
    ..Retrospectively and prospectively population-based data was utilized to assess the trend in prevalence for NTDs in Utah from 1985-2000...
  87. ncbi Neural tube defects in relation to use of folic acid antagonists during pregnancy
    S Hernandez-Diaz
    Slone Epidemiology Unit, Boston University School of Public Health, Brookline, MA 02446, USA
    Am J Epidemiol 153:961-8. 2001
    ..They compared data on 1,242 infants with NTDs (spina bifida, anencephaly, and encephalocele) with data from a control group of 6,660 infants with malformations not related to vitamin ..
  88. ncbi The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal age
    Jelena G Petrova
    PG Vyzletsova, Clinical Childrens Hospital of Arkhangelskaja Oblast, Arkhangelsk, Russia
    Acta Obstet Gynecol Scand 88:667-72. 2009
    To determine the incidence of isolated anencephaly and spina bifida in the Arkhangelskaja Oblast (AO) in Russia and in Norway, and to study the maternal age distribution of these congenital defects.
  89. ncbi Neural tube defects in the sample of genetic counselling
    Jozsef Gabor Joo
    1st Department of Obstetrics and Gynaecology, Faculty of General Medicine, Semmelweis University, Hungary
    Prenat Diagn 27:912-21. 2007
    ..We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years...
  90. ncbi [Survival of children born with selected types of birth defects in Czech Republic]
    A Sipek
    Ustav pro péci o matku a díte, Praha
    Ceska Gynekol 69:47-52. 2004
    ..The objective was also to analyse the percentage of deceased children born with selected types of congenital defects from the total number of deceased children...
  91. ncbi Neural tube defects are rare among black Americans but not in sub-Saharan black Africans: the case of Yaounde - Cameroon
    A K Njamnshi
    Neurology Department, Central Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences FMBS, Univ of Yaounde 1, Cameroon
    J Neurol Sci 270:13-7. 2008
    ..Neural tube defects in the middle belt of Nigeria. J Trop Pediatr 1992;38 27-30.][corrected]...
  92. ncbi National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001
    Mark A Canfield
    Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78756, USA
    Birth Defects Res A Clin Mol Teratol 76:747-56. 2006
    ..In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity...
  93. ncbi Amniotic fluid hormone profiles during normal and abnormal pregnancy
    A Sarandakou
    2nd Department of Obstetrics and Gynecology, Areteion University Hospital, Athens, Greece
    Clin Exp Obstet Gynecol 19:180-8. 1992
    ..In toxemia, SP1, hCG and PRL were elevated, while HPL and ET were very low. In anencephaly and hydrocephaly with spina bifida, AFP was markedly elevated and ET were very low, but in simple hydrocephalus,..
  94. ncbi Elevated maternal serum alpha-fetoprotein with low unconjugated estriol and the risk for lethal perinatal outcome
    P A Benn
    Department of Pediatrics, University of Connecticut Health Center, Farmington 06030 6140, USA
    J Matern Fetal Med 9:165-9. 2000
    ..To determine whether a combination of elevated maternal serum alpha-fetoprotein (MSAFP) and low unconjugated estriol (E3) concentration identifies pregnancies at particularly high risk for fetal abnormality or poor outcome...
  95. ncbi Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects
    M A Honein
    National Center on Birth Defects and Developmental Disabilities, Mailstop F 45, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, Atlanta, GA 30341 3724, USA
    JAMA 285:2981-6. 2001
    ..The US Food and Drug Administration authorized addition of folic acid to enriched grain products in March 1996, with compliance mandatory by January 1998...
  96. ncbi Maternal age-specific risk of non-chromosomal anomalies
    M Loane
    EUROCAT, Faculty of Life and Health Science, University of Ulster, Jordanstown, Co Antrim, UK
    BJOG 116:1111-9. 2009
    ..To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers...
  97. ncbi Decline in the incidence of neural tube defects after the national fortification of flour (1997-2005)
    Osama Y Safdar
    Department of Pediatrics, King Abdul Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia
    Saudi Med J 28:1227-9. 2007
    ..To evaluate the effect of flour fortification with folic acid on the incidence of neural tube defects (NTDs) in babies. We also report the pattern of NTDs, and we compare it with those reported previously...
  98. ncbi [From teratology to mythology: ancient legends]
    A Stahl
    Hopital de la Timone, Marseille, France
    Arch Pediatr 17:1716-24. 2010
    ..Cyclopia have inspired the legend of the cyclops. Anencephaly probably explains the description of headless or blemmyes...
  99. ncbi [Week of pregnancy in which birth defects were prenatally diagnosed in the Czech Republic in 1996-2002]
    V Gregor
    Oddĕlení lékarské genetiky, Fakultní Thomayerova nemocnice, Praha
    Ceska Gynekol 69:53-9. 2004
    ..As regards data on Down's Syndrome, comparison to the data from other countries...
  100. pmc The development of the neural crest in the human
    Fabiola Müller
    School of Medicine, University of California, Davis, California, USA
    J Anat 211:335-51. 2007
    ..13) Embryonic examples of synophthalmia and anencephaly are cited to emphasize the role of the neural crest in the development of cranial ganglia and the skull.
  101. ncbi Effect of folic acid fortification on the incidence of neural tube defects
    Zouhair O Amarin
    Department of Obstetrics and Gynecology, Jordan University of Science and Technology, Irbid 22110, Jordan
    Paediatr Perinat Epidemiol 24:349-51. 2010
    ..number of births at Princess Badea Hospital, as well as the number of pregnancies affected by spina bifida and anencephaly, per 1000 births during the periods before (2000-01), during (2002-04) and after (2005-06) folic acid ..

Research Grants38

  1. Genetic Predisposition & Prevention of Neural Tube Defects (NTDs)
    MARGARET ELIZABETH contact ROSS; Fiscal Year: 2010
    ..This will begin to reveal mechanisms by which FA, and inositol, acts to suppress NTD. ..
  2. Using shared mechanisms of morphogenesis to study neural tube defects
    JESSICA LEE SULLIVAN-BROWN; Fiscal Year: 2012
    ..Neural tube closure (NTC) is a morphogenetic event, and neural tube defects (NTDs), including spina bifida and anencephaly, are the second leading cause of congenital disorders...
  3. Roles of microRNAs during vertebrate brain morphogenesis
    Carter M Takacs; Fiscal Year: 2012
    ..In addition, failure of brain closure (anencephaly) and spinal closure (spina bifida) occur with a high prevalence in humans with devastating effects to nervous ..
  4. MECHANICS OF EARLY BRAIN AND EYE DEVELOPMENT
    Larry A Taber; Fiscal Year: 2013
    ..Abnormalities in size and shape of the early brain are known to cause serious neurological disorders such as anencephaly, hydrocephalus, autism, and schizophrenia, while improper eye morphogenesis can cause coloboma and ..
  5. Novel Ubiquitin Dependent Pathways Regulating Neural Tube Closure &Placentation
    Irene E Zohn; Fiscal Year: 2013
    ..Neural tube defects including spina bifida and anencephaly are some of the most common morphological birth defects affecting humans resulting in death of the fetus or ..
  6. Function of intramembrane aspartic protease
    Evgeny I Rogaev; Fiscal Year: 2012
    ..of the mIMP1 knockout animals are severe brain development defects: exencephaly (brain overgrowth) and anencephaly (brain depletion). In this project we propose to test the following hypotheses...
  7. Iron Deficiency and Neural Tube Defects
    Irene E Zohn; Fiscal Year: 2013
    Neural tube defects (NTDs) including spina bifida, anencephaly and holoprosencephaly are some of the most common structural birth defects observed in humans...
  8. Function of Mesendoderm in Closure of the Anterior Neural Tube
    Jennifer O Liang; Fiscal Year: 2012
    ..When the anterior neural tube fails to close, it results in a fatal birth defect called anencephaly in which the brain and skull fail to develop...
  9. Risk Genes and Environment Interactions in NTDs
    MARGARET ELIZABETH ROSS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Neural tube defects (NTDs), primarily spina bifida and anencephaly, arise from a complex interplay of multiple gene interactions and environmental exposures...
  10. MOUSE MODELS FOR NEURAL TUBE DEFECTS
    Muriel T Davisson; Fiscal Year: 2009
    ..Neural tube defects (NTDs), which include spina bifida and anencephaly, are one of the most frequent and severe developmental anomalies of the central nervous system...
  11. The Bioavilaibility of Folate in Humans
    Richard van Breemen; Fiscal Year: 2004
    ..cereal was initiated in the US, the incidence of spina bifida has declined 20 percent, but the incidence of anencephaly remains unchanged, which supports the need for alternate types or higher levels of dietary folates...
  12. NEURAL TUBE DEFECTS
    LOWELL WEITKAMP; Fiscal Year: 1990
    ..These defects, which include the fatal brain malformation, anencephaly, and the handicapping condition, spina bifida or meningomyelocele, spina bifida or meningomyelocele, occur in 1 ..
  13. Patterning of the optic vesicle by extrinsic factors
    Sabine Fuhrmann; Fiscal Year: 2003
    ..defects affecting the brain and eye, such as holoprosencephaly, congenital anophthalmia, microphthalmia, and anencephaly. Understanding the normal process of development will allow for better prevention and treatment of such defects...
  14. Analysis of RhoA Mediated Morphogenesis in Drosophila
    SUSAN HALSELL; Fiscal Year: 2001
    ..Defects in morphogenesis give rise to birth defects such as spina bifida and anencephaly. While the outcome of such morphogenetic defects is very apparent, the underlying cellular and molecular ..
  15. Neural Tube Defects Conference 2007 and Beyond
    Marcy Speer; Fiscal Year: 2007
    ..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
  16. Neural Tube Defects 2001 and Beyond
    Marcy Speer; Fiscal Year: 2001
    ..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations, such as encephalocele, craniorachischisis, and iniencephaly...
  17. Neural Tube Defects Conference 2005 and Beyond
    Marcy Speer; Fiscal Year: 2005
    ..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
  18. Neural Tube Defects 2003 and Beyond
    Marcy Speer; Fiscal Year: 2003
    ..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
  19. Role of the Zic2 gene in CNS development & malformation
    Stephen Brown; Fiscal Year: 2005
    ..in the pattern and/or level of Zic2 expression result in a variety of malformations such as exencephaly, anencephaly and facial hypoplasia. These results indicate that Zic2 has a critical role in CNS and facial development...
  20. ROLE OF THE NEUROEPITHELIAL BASAL LAMINA IN NEURULATION
    Bruce Carlson; Fiscal Year: 1991
    Birth defects of the CNS such as anencephaly and spina bifida are among the most severe and at the same time poorly understood conditions which may affect an infant...
  21. REGULATION OF MORPHOGENESIS BY IONS, CAMP AND INOSITIDES
    WILLIAM BUSA; Fiscal Year: 1991
    ..of teratogens such as Li+ (which is widely employed clinically), and of some birth defects of the neural tube and head, such as anencephaly. They may also fundamentally contribute to our understanding of vertebrate pattern formation.
  22. FOLATE RECEPTORS IN CRANIOFACIAL MALFORMATIONS
    Richard Finnell; Fiscal Year: 2002
    ..abstract_text> ..
  23. GENETIC REGULATION OF FOLATE RESPONSIVE BIRTH DEFECTS
    Richard Finnell; Fiscal Year: 2009
    ..The hypothesis that the Folbp1 receptor functions in complexes with other proteins within the lipid raft of the cell membrane to act as a signaling molecule challenges existing preconceptions concerning the function of this protein. ..
  24. FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTS
    Gary Shaw; Fiscal Year: 2002
    ..abstract_text> ..
  25. Therapeutic Placebos as Complementary Therapy in ADHD
    Adrian Sandler; Fiscal Year: 2004
    ....
  26. ISOLATION & FUNCTION OF THE XLIS NEURONAL MIGRATION GENE
    Margaret Ross; Fiscal Year: 2003
    ....
  27. Nitrates, Nitrites, and Nitrosatable Drugs and Risk of Selected Birth Defects
    JEAN DIANE BRENDER; Fiscal Year: 2010
    ..The study is also designed to examine whether higher intakes of vitamin C or E decrease these potential risks. ..
  28. PATHOGENESIS OF ANTICONVULSANT HYPERSENSITIVITY SYNDROME
    JAMES LEEDER; Fiscal Year: 2003
    ..It is anticipated that the basic experimental paradigm employed for these studies can also be applied to other idiosyncratic toxicities with suspected drug bioactivation and immune etiologies. ..
  29. Crooked Tail: Gene Expression in a Neural Tube Defect
    Margaret Ross; Fiscal Year: 2006
    ..abstract_text> ..
  30. Molecular Mechanisms of Alcohol Related Birth Defects
    Shao Yu Chen; Fiscal Year: 2007
    ..This study is expected to provide important new data relative to molecular mechanisms of alcohol-related birth defects. ..
  31. Ontogeny of Drug Bioactivation and Idiosyncratic ADRs
    JAMES LEEDER; Fiscal Year: 2007
    ..abstract_text> ..
  32. Race/Socioeconomic Area Characteristics & Cancer-Detroit
    Ellen Velie; Fiscal Year: 2005
    ..abstract_text> ..
  33. REGULATION OF MESANGIAL CELL ECM SYNTHESIS BY GLUT1
    Charles Heilig; Fiscal Year: 2002
    ..Deletion mutation analysis of activated reporter constructs will locate the limiting sequences of these cis-acting elements. ..
  34. Energy Balance and Breast Cancer in Black & White Women
    Ellen Velie; Fiscal Year: 2006
    ..abstract_text> ..
  35. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003
    ....
  36. A Population Based Study of Birth Characteristics and Maternal Breast Cancer
    Ellen Velie; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  37. Exogenous Stressors and Birth Defects Risks
    Suzan Carmichael; Fiscal Year: 2005
    ..This research will enhance scientific understanding of the causes of several common, costly, often deadly birth defects, which will undoubtedly have important implications for their risk assessment and prevention. ..
  38. Inhibin/Activin Family in Human Cranifocial Development
    Geralyn Messerlian; Fiscal Year: 2003
    ..abstract_text> ..