abnormalities

Summary

Summary: Congenital malformations of organs or parts.

Top Publications

  1. ncbi Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees
    M Davis
    Department of Neuropathology, Royal Perth Hospital, Western Australia
    Br J Anaesth 88:508-15. 2002
  2. doi Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006
    Samantha E Parker
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Birth Defects Res A Clin Mol Teratol 88:1008-16. 2010
  3. pmc Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    David T Miller
    Division of Genetics and Department of Laboratory Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 86:749-64. 2010
  4. ncbi High-frequency developmental abnormalities in p53-deficient mice
    J F Armstrong
    Department of Pathology, University Medical School, Edinburgh, UK
    Curr Biol 5:931-6. 1995
  5. pmc Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
    Victoria H Castleman
    General and Adolescent Paediatric Unit, University College London Institute of Child Health, Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Am J Hum Genet 84:197-209. 2009
  6. doi Residential mobility during pregnancy: patterns and correlates
    Assia Miller
    Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Mailstop E 86, 1600 Clifton Road, Atlanta, GA 30329, USA
    Matern Child Health J 14:625-34. 2010
  7. doi Paper 6: EUROCAT member registries: organization and activities
    Ruth Greenlees
    University of Ulster, Newtownabbey, Co Antrim, Northern Ireland, United Kingdom
    Birth Defects Res A Clin Mol Teratol 91:S51-S100. 2011
  8. doi Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome
    Susanne Ledig
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, Munster, Germany
    Fertil Steril 95:1589-94. 2011
  9. pmc Drinking water contaminants and adverse pregnancy outcomes: a review
    Frank Bove
    Division of Health Studies, Agency for Toxic Substances and Disease Registry, Atlanta, Georgia, USA
    Environ Health Perspect 110:61-74. 2002
  10. ncbi The risk of adverse reproductive and developmental disorders due to occupational pesticide exposure: an overview of current epidemiological evidence
    Wojciech Hanke
    Department of Environmental Epidemiology, Nofer Institute of Occupational Medicine, Lodz, Poland
    Int J Occup Med Environ Health 17:223-43. 2004

Research Grants

  1. HEPATIC ENCEPHALOPATHY--NEUROPSYCHOLOGY & NEUROCHEMISTRY
    Michael Thomas; Fiscal Year: 2001
  2. Understanding/ Treating Neuropsychiatric Symptoms of Pediatric Physical Illness
    Eva Szigethy; Fiscal Year: 2009
  3. Lauren Endres; Fiscal Year: 2014
  4. Sogol Mostoufi-Moab; Fiscal Year: 2016
  5. Cardiotrophin-Like Cytokine 1, a Candidate Molecule for the FSGS Factor
    Virginia J Savin; Fiscal Year: 2010
  6. Brain Activation responses in adolescents with genetic predisposition to obesity
    Susan Carnell; Fiscal Year: 2011
  7. Principles of Therapy in Cerebellar Disease: Explorations in Ion Channel Mutants
    JOHN SAMUEL STAHL; Fiscal Year: 2013
  8. Effective treatment of sleep apnea in prediabetes to reduce cardiometabolic risk
    Esra Tasali; Fiscal Year: 2010
  9. Tyrosine Availability Influences Mesocortico-Limbic Catecholamines
    GEORGE EUGENE JASKIW; Fiscal Year: 2012
  10. NICOLE RENEE TARTAGLIA; Fiscal Year: 2015

Detail Information

Publications415 found, 100 shown here

  1. ncbi Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees
    M Davis
    Department of Neuropathology, Royal Perth Hospital, Western Australia
    Br J Anaesth 88:508-15. 2002
    Malignant hyperthermia (MH) is rarely associated with specific myopathies or musculoskeletal abnormalities. Three clinical investigations of MH associated with either non-specific myopathies or congenital disorders in three separate ..
  2. doi Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006
    Samantha E Parker
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Birth Defects Res A Clin Mol Teratol 88:1008-16. 2010
    ..In 2006, data for 21 birth defects from 1999 through 2001 were presented as national birth prevalence estimates. The purpose of this report was to update these estimates using data from 2004 through 2006...
  3. pmc Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    David T Miller
    Division of Genetics and Department of Laboratory Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 86:749-64. 2010
    ..G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages...
  4. ncbi High-frequency developmental abnormalities in p53-deficient mice
    J F Armstrong
    Department of Pathology, University Medical School, Edinburgh, UK
    Curr Biol 5:931-6. 1995
    ..Several strains of mice carrying null mutations of the tumour suppressor gene p53 have been developed. It has been reported that homozygous mice from all of these strains develop normally to birth, but then succumb rapidly to neoplasia...
  5. pmc Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
    Victoria H Castleman
    General and Adolescent Paediatric Unit, University College London Institute of Child Health, Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Am J Hum Genet 84:197-209. 2009
    ..SNP-based linkage analysis in seven consanguineous families with PCD and central-microtubular-pair abnormalities. This identified two loci, in two families with intermittent absence of the central-pair structure (chromosome ..
  6. doi Residential mobility during pregnancy: patterns and correlates
    Assia Miller
    Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Mailstop E 86, 1600 Clifton Road, Atlanta, GA 30329, USA
    Matern Child Health J 14:625-34. 2010
    ..Accounting for potential case-control differences in correlates of residential mobility could be useful in minimizing potential non-differential misclassification...
  7. doi Paper 6: EUROCAT member registries: organization and activities
    Ruth Greenlees
    University of Ulster, Newtownabbey, Co Antrim, Northern Ireland, United Kingdom
    Birth Defects Res A Clin Mol Teratol 91:S51-S100. 2011
    ..This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT...
  8. doi Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome
    Susanne Ledig
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, Munster, Germany
    Fertil Steril 95:1589-94. 2011
    ..To identify genetic causes of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome...
  9. pmc Drinking water contaminants and adverse pregnancy outcomes: a review
    Frank Bove
    Division of Health Studies, Agency for Toxic Substances and Disease Registry, Atlanta, Georgia, USA
    Environ Health Perspect 110:61-74. 2002
    ..Nevertheless, the findings of excess NTDs, oral clefts, cardiac defects, and choanal atresia in studies that evaluated TCE-contaminated drinking water deserve follow-up...
  10. ncbi The risk of adverse reproductive and developmental disorders due to occupational pesticide exposure: an overview of current epidemiological evidence
    Wojciech Hanke
    Department of Environmental Epidemiology, Nofer Institute of Occupational Medicine, Lodz, Poland
    Int J Occup Med Environ Health 17:223-43. 2004
    ..The results of the analyses showed that employment in agriculture increases the risk of specific morphological abnormalities in sperm, including the decreased sperm count per ejaculate and declined percentage of viable sperm...
  11. doi Factors associated with dental admissions for children aged under 5 years in Western Australia
    L Slack-Smith
    School of Population Health, The University of Western Australia, Crawley, Western Australia, Australia
    Arch Dis Child 94:517-23. 2009
    ..There is limited literature describing dental admissions in preschool children. This paper describes dental hospital admissions and associated factors in children aged under 5 years...
  12. pmc Birth defects in singleton versus multiple ART births in Japan (2004-2008)
    Syuichi Ooki
    Department of Health Science, Ishikawa Prefectural Nursing University, 1 1 Gakuendai, Kahoku, Ishikawa 929 1210, Japan
    J Pregnancy 2011:285706. 2011
    ..86). We concluded that the impact of birth defects after ART would be larger in families with multiples compared to families with singletons, since the mean number of children would be larger in the former...
  13. doi Use of proton-pump inhibitors in early pregnancy and the risk of birth defects
    Björn Pasternak
    Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
    N Engl J Med 363:2114-23. 2010
    ..Symptoms of gastroesophageal reflux are common in pregnancy, but there are limited data on the risk of birth defects associated with exposure to proton-pump inhibitors (PPIs) in early pregnancy...
  14. pmc Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
    Linda Kleeman
    Division of Maternal Fetal Medicine, Tufts Medical Center, Boston, MA, USA
    Prenat Diagn 29:1213-7. 2009
    ..To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies...
  15. doi Birth defects surveillance in China
    Li Dai
    National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu 610041, China
    World J Pediatr 7:302-10. 2011
    ..Nearly every province in this country has established its own surveillance system in the past. The authors reviewed the result of the monitoring system at different administrative levels in China...
  16. doi Maternal exposure to ambient air pollutants and risk of congenital anomalies
    Judith Rankin
    Institute of Health and Society, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Environ Res 109:181-7. 2009
    ..Overall, maternal exposure to BS and SO(2) in the Northern region had limited impact on congenital anomaly risk. Studies with detailed exposure assessment are needed to further investigate this relationship...
  17. doi Trends in prevalence and outcomes of pregnancy in women with pre-existing type I and type II diabetes
    R Bell
    Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK
    BJOG 115:445-52. 2008
    ..To describe recent trends in prevalence, outcomes and indicators of care for women with pre-existing type I or type II diabetes...
  18. ncbi Neonatal data on a cohort of 2889 infants born after ICSI (1991-1999) and of 2995 infants born after IVF (1983-1999)
    Maryse Bonduelle
    Centre for Medical Genetics, Dutch speaking Brussels Free University VUB, Laarbeeklaan 101, B 1090 Brussels, Belgium
    Hum Reprod 17:671-94. 2002
    ..To evaluate the safety of ICSI, this study compared data of IVF and ICSI children by collecting data on neonatal outcome and congenital malformations during pregnancy and at birth...
  19. ncbi Pregnancy, delivery, and neonatal complications in a population cohort of women with schizophrenia and major affective disorders
    Assen V Jablensky
    Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia
    Am J Psychiatry 162:79-91. 2005
    ..This study ascertained the incidence of complications during pregnancy, labor, and delivery and the neonatal characteristics of infants born to women with schizophrenia, bipolar disorder, or major depression in a population-based cohort...
  20. ncbi 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
    L D Botto
    Birth Defects and Pediatric Genetics Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Epidemiol 151:862-77. 2000
    ..Studies of the C677T allele in relation to oral clefts, Down syndrome, and fetal anticonvulsant syndrome either have yielded conflicting results or have not been yet replicated...
  21. doi Paternal exposure to Agent Orange and spina bifida: a meta-analysis
    Anh Duc Ngo
    School of Population Health, University of Queensland, Brisbane, QLD, Australia
    Eur J Epidemiol 25:37-44. 2010
    ..86) and the cross sectional study (RR = 1.97, 95% CI: 1.31-2.96), but not for the three cohort studies (RR: 2.11; 95% CI: 0.78-5.73). Paternal exposure to AO appears to be associated with a statistically increased risk of spina bifida...
  22. ncbi VEGF: a modifier of the del22q11 (DiGeorge) syndrome?
    Ingeborg Stalmans
    The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology, Katholieke Universiteit Leuven, Leuven, Belgium
    Nat Med 9:173-82. 2003
    ..These genetic data in mouse, fish and human indicate that VEGF is a modifier of cardiovascular birth defects in the del22q11 syndrome...
  23. ncbi Maternal age and malformations in singleton births
    L M Hollier
    Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Obstet Gynecol 96:701-6. 2000
    ..To examine the effect of maternal age on incidence of nonchromosomal fetal malformations...
  24. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  25. doi Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, WA 99202, USA
    Prenat Diagn 28:789-95. 2008
    To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing.
  26. doi Congenital anomalies in twins: a register-based study
    S V Glinianaia
    Institute of Health and Society, Newcastle University, William Leech Building, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Hum Reprod 23:1306-11. 2008
    ..The aim of this study was to describe the prevalence of congenital anomalies in twin pregnancies by chorionicity and by major subtype and compare the rates with those in singletons...
  27. ncbi Guidelines for case classification for the National Birth Defects Prevention Study
    Sonja A Rasmussen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Birth Defects Res A Clin Mol Teratol 67:193-201. 2003
    ..Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies...
  28. ncbi Smoking habits, nicotine use, and congenital malformations
    Maria M Morales-Suarez-Varela
    Unit of Public Health and Environmental Care, Department of Preventive Medicine, University of Valencia, Valencia, Spain
    Obstet Gynecol 107:51-7. 2006
    ..We examined whether maternal smoking and use of nicotine substitutes during the first 12 weeks of pregnancy increased the prevalence of congenital malformations in general and of certain congenital malformations in particular...
  29. ncbi The use of folic acid for the prevention of neural tube defects and other congenital anomalies
    R Douglas Wilson
    J Obstet Gynaecol Can 25:959-73. 2003
    ..OPTION: Folic acid supplementation is problematic, since 50% of pregnancies are unplanned and the health status of women may not be optimal...
  30. ncbi The impact of environmental pollution on congenital anomalies
    Helen Dolk
    University of Ulster, Newtownabbey, UK
    Br Med Bull 68:25-45. 2003
    ..Prenatal service providers and counsellors need to be aware of the uncertainties regarding environmental pollution when addressing parental concerns...
  31. ncbi Reporting birth defects surveillance data 1968-2003
    Adolfo Correa
    Birth Defects Res A Clin Mol Teratol 79:65-186. 2007
  32. ncbi Prenatal multivitamin supplementation and rates of congenital anomalies: a meta-analysis
    Y Ingrid Goh
    Department of Pharmaceutical Sciences, University of Toronto, and The Motherisk Program, Division of Clinical Pharmacology Toxicology, The Hospital for Sick Children, Toronto, ON, Canada
    J Obstet Gynaecol Can 28:680-9. 2006
    ..Several studies have also proposed the effectiveness of these supplements in preventing other birth defects; however, such effects have never been systematically examined...
  33. doi The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age
    A Hagen
    Obstetrics and Gynecology, Center for Prenatal Diagnosis Kudamm 199, Berlin
    Ultraschall Med 32:302-6. 2011
    ..To evaluate the acceptance of noninvasive screening for trisomy 13, 18, 21 and the impact on invasive testing rates in women at an age≥35 years...
  34. ncbi Fetal and neonatal outcomes of diabetic pregnancies
    Joanne Yang
    Department of Pediatrics, Izaak Walton Killam Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada
    Obstet Gynecol 108:644-50. 2006
    ....
  35. ncbi Differential risks to males and females for congenital malformations among 2.5 million California births, 1989-1997
    Gary M Shaw
    March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, California 94710, USA
    Birth Defects Res A Clin Mol Teratol 67:953-8. 2003
    ..Although many studies have observed variations in the prevalence of specific malformations by sex, there is a lack of population-based data on potential malformation prevalence differences by sex at birth...
  36. doi Congenital abnormalities in the offspring of pregnant women with type 1, type 2 and gestational diabetes mellitus: a population-based case-control study
    Ferenc Banhidy
    Second Department of Obstetrics and Gynecology, Semmelweis, University, School of Medicine, Budapest, Hungary
    Congenit Anom (Kyoto) 50:115-21. 2010
    To estimate the risk of structural birth defects (i.e. congenital abnormalities [CA]) in the offspring of pregnant women with type 1 (DM-1), type 2 (DM-2) and gestational diabetes mellitus (GDM) and to check the efficacy of recent ..
  37. ncbi Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes
    A Aberg
    The Department of Obstetrics and Gynaecology, Lund University Hospital, S 221 85, Lund, Sweden
    Early Hum Dev 61:85-95. 2001
    ..Diabetes type 1 is associated with an increased risk for infant congenital malformations. It is debated whether this is true also at gestational diabetes...
  38. ncbi Teratogen update: evaluation of the reproductive and developmental risks of caffeine
    M S Christian
    Argus International and Argus Research Laboratories, Horsham, Pennsylvania 19044, USA
    Teratology 64:51-78. 2001
    ..Proven human teratogens have an identifiable syndrome. The malformations described in the animal studies at very high doses fit the description of vascular disruptive types of malformations. (ABSTRACT TRUNCATED)..
  39. pmc A multi-center study for birth defect monitoring systems in Korea
    Jae Hyug Yang
    Department of Obstetrics and Gynecology, Samsung Cheil Hospital, Sungkyunkwan University, Seoul, Korea
    J Korean Med Sci 19:509-13. 2004
    ..To better understand the serial occurrence of birth defects in Korea, it is necessary to increase the number of participating hospitals and to launch on a nation-wide multi-center study...
  40. ncbi Congenital anomalies in Iran: a cross-sectional study on 1574 cases in the North-West of country
    S Dastgiri
    Department of Community and Family Medicine, National Public Health Management Centre NPMC, Tabriz University of Medical Sciences, Tabriz, Iran
    Child Care Health Dev 33:257-61. 2007
    ..At least one congenital anomaly is present in between 1% and 6% of all infants throughout the world. The aim of this study was to document some epidemiological features of congenital anomalies in the North-West of Iran...
  41. ncbi The risk of birth defects in multiple births: a population-based study
    Yiwei Tang
    Department of Pediatrics, College of Medicine, University of Florida, PO Box 100296, Gainesville, FL, 32610, USA
    Matern Child Health J 10:75-81. 2006
    ....
  42. ncbi Utility of family history reports of major birth defects as a public health strategy
    Paul A Romitti
    Department of Epidemiology, C21 E GH, 200 Hawkins Dr, University of Iowa, Iowa City, IA 52242, USA
    Pediatrics 120:S71-7. 2007
    ..In summary, routine collection of family history reports of birth defects in pediatric practice holds promise as a public health strategy to reduce the burden of morbidity, mortality, and disability associated with major birth defects...
  43. pmc Prescribing of NSAIDs and ASA during pregnancy; do we need to be more careful?
    Fokaline Vroom
    Br J Clin Pharmacol 65:275-6. 2008
  44. ncbi Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac
    K R Johnson
    Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genomics 29:457-64. 1995
    ..We mapped mdac to the middle of Chr 13 by segregation analysis of both recombinant inbred strains and backcross progeny...
  45. ncbi Description and mission evaluation of the Hungarian case-control surveillance of congenital abnormalities, 1980-1996
    A E Czeizel
    Foundation for Community Control of Hereditary Diseases, Budapest, Hungary
    Teratology 63:176-85. 2001
    BACKGROUND: The Hungarian Case-Control Surveillance of Congenital Abnormalities was established in 1980...
  46. pmc Four polygamous families with congenital birth defects from Fallujah, Iraq
    Samira Alaani
    Fallujah General Hospital, Althubbadh District, Fallujah, 00964, Iraq
    Int J Environ Res Public Health 8:89-96. 2011
    ..The prevalence of familial birth defects after 2003 highlights the relevance of epigenetic mechanisms and offers insights to focus research, with the aim of reducing further damage to people's health...
  47. ncbi Internal consistency of Waldrop Physical Anomaly Scale in schizophrenic patients
    Valentin Hristov Akabaliev
    Department of Psychiatry and Medical Psychology, Higher Medical Institute Plovdiv, 15a, Vassil Aprilov Blvd, Plovdiv 4002, Bulgaria
    Psychiatry Res 150:81-8. 2007
    ....
  48. ncbi Improving estimates of caregiver time cost and family impact associated with birth defects
    J M Tilford
    Arkansas Center for Birth Defects Research and Prevention, Little Rock, Arkansas 72212, USA
    Teratology 64:S37-41. 2001
    ..Future research should investigate the economic costs of caregiver time and family impact associated with caring for children with birth defects...
  49. ncbi The influence of prenatal screening and termination of pregnancy on perinatal mortality rates
    K M van der Pal-de Bruin
    TNO Prevention and Health, PO Box 2215, 2301 CE Leiden, The Netherlands
    Prenat Diagn 22:966-72. 2002
    ..This study concerns the possible effect of practice of prenatal screening of congenital anomalies followed by termination of pregnancy on the perinatal mortality between European countries...
  50. ncbi No association found between 158 Val/Met polymorphism of the COMT gene and schizophrenia with minor physical anomalies
    Eun Jeong Joo
    Department of Psychiatry, Eulji University School of Medicine, Daegeon, South Korea
    Psychiatry Res 136:83-91. 2005
    ..Overall, this study does not support the hypothesis that the 158 Val/Met polymorphism in the COMT gene is associated with schizophrenia in Koreans...
  51. ncbi Maternal exposure to caffeine and risk of congenital anomalies: a systematic review
    Marilyn L Browne
    Bureau of Environmental and Occupational Epidemiology, New York State Department of Health, Troy, USA
    Epidemiology 17:324-31. 2006
    ..These reviews were narrative rather than systematic. The objective of the current systematic review is to provide a critical appraisal of epidemiologic evidence...
  52. ncbi [Perinatal outcomes in the four largest cities and in deprived neighbourhoods in The Netherlands]
    J P de Graaf
    afd Verloskunde en Vrouwenziekten, Erasmus MC Centrum, Postbus 2040, 3000 CA Rotterdam
    Ned Tijdschr Geneeskd 152:2734-40. 2008
    ..To analyse the association between neighbourhood, ethnicity and adverse perinatal outcome in pregnant women from the 4 largest cities (Amsterdam, Rotterdam, The Hague and Utrecht; G4) and elsewhere in The Netherlands...
  53. ncbi Sex differences in the prevalence of human birth defects: a population-based study
    J M Lary
    Birth Defects and Pediatric Genetics Branch, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341 3724, USA
    Teratology 64:237-51. 2001
    ..To determine the full extent of sex differences in birth defects in a population, we examined population-based data from the Metropolitan Atlanta Congenital Defects Program (MACDP)...
  54. ncbi A multi-centre cohort study of the physical health of 5-year-old children conceived after intracytoplasmic sperm injection, in vitro fertilization and natural conception
    M Bonduelle
    Centrum Medische Gentica, Laarbeeklaan, 101, Brussels, Belgium
    Hum Reprod 20:413-9. 2005
    ..Newer techniques being introduced appear less and less 'natural', such as intracytoplasmic sperm injection (ICSI), but there is little information on these children beyond the neonatal period...
  55. ncbi Congenital abnormalities of the pancreas and biliary tree in adults
    R J Rizzo
    Department of Radiology, Medical College of Virginia Hospitals, Richmond 23298 0615
    Radiographics 15:49-68; quiz 147-8. 1995
    Congenital abnormalities of the pancreaticobiliary tree may go undetected until adulthood...
  56. doi Ambient air pollution and risk of congenital anomalies in England, 1991-1999
    H Dolk
    Room 12L09, University of Ulster, Shore Road, Newtownabbey, Co Antrim, BT37 0QB, UK
    Occup Environ Med 67:223-7. 2010
    ..To investigate whether there is an association between risk of congenital anomaly and annual ward level exposure to air pollution in England during the 1990s...
  57. ncbi Assisted reproductive technologies and the risk of birth defects--a systematic review
    Michèle Hansen
    Centre for Child Health Research, The University of Western Australia Telethon Institute for Child Health Research, West Perth, Western Australia 6872, Australia
    Hum Reprod 20:328-38. 2005
    ....
  58. doi Selective cortical layering abnormalities and behavioral deficits in cortex-specific Pax6 knock-out mice
    Tran Cong Tuoc
    Department of Molecular Cell Biology, Max Planck Institute for Biophysical Chemistry, 37077 Gottingen, Germany
    J Neurosci 29:8335-49. 2009
    ..Because a majority of the morphological and behavior disabilities of the Pax6 mutant mice parallel abnormalities reported for aniridia patients, a condition caused by PAX6 haploinsufficiency, the Pax6 conditional mutant ..
  59. doi Differences in rates and short-term outcome of live births before 32 weeks of gestation in Europe in 2003: results from the MOSAIC cohort
    Jennifer Zeitlin
    Department of Obstetrics and Gynecology, INSERM, UMR S149, Epidemiological Research Unit on Perinatal and Women s Health, and Université Pierre et Marie Curie Paris6, Paris, France
    Pediatrics 121:e936-44. 2008
    ..This analysis contrasts the rates and short-term outcome of live births before 32 weeks of gestation in 10 European regions...
  60. ncbi Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans
    J M Graham
    Medical Genetics Birth Defects Center, UCLA School of Medicine, Cedars Sinai Medical Center, USA
    Teratology 58:209-21. 1998
    ..Thus, by reviewing the effects of hyperthermia in experimental animals, as well as malformative and protective mechanisms of teratogenesis, we have attempted to understand the effects of human hyperthermia teratogenesis...
  61. doi Congenital malformations
    Giovanni Corsello
    Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    J Matern Fetal Neonatal Med 25:25-9. 2012
    ..Because of their increasing life expectancy, congenital malformations represent today a major issue in the health services for the amount of resources they need for the requested multidisciplinary assistance...
  62. ncbi Obstetric outcomes and congenital abnormalities after in vitro maturation, in vitro fertilization, and intracytoplasmic sperm injection
    William M Buckett
    Department of Obstetrics and Gynecology, McGill University, Royal Victoria Hospital, Montreal, Canada
    Obstet Gynecol 110:885-91. 2007
    To compare obstetric outcome and congenital abnormalities in pregnancies conceived after in vitro maturation (IVM), in vitro fertilization (IVF), and intracytoplasmic sperm injection (ICSI) with those in spontaneously conceived controls.
  63. pmc Birth defects, season of conception, and sex of children born to pesticide applicators living in the Red River Valley of Minnesota, USA
    Vincent F Garry
    Environmental Medicine and Pathology Laboratory, 1st Floor Stone Laboratory 1, University of Minnesota, 421 29th Avenue SE, Minneapolis, MN 55414, USA
    Environ Health Perspect 110:441-9. 2002
    ..Thus, two distinct classes of pesticides seem to have adverse effects on different reproductive outcomes. Biologically based confirmatory studies are needed...
  64. ncbi Congenital malformations in offspring of diabetic mothers--animal and human studies
    Ulf J Eriksson
    Department of Medical Cell Biology, Uppsala University, Uppsala, Sweden
    Rev Endocr Metab Disord 4:79-93. 2003
  65. doi Risk of adverse fetal outcomes following administration of a pandemic influenza A(H1N1) vaccine during pregnancy
    Björn Pasternak
    Department of Epidemiology Research, Statens Serum Institut, Artillerivej 5, 2300 Copenhagen S, Denmark
    JAMA 308:165-74. 2012
    ..Assessment of the fetal safety of vaccination against influenza A(H1N1)pdm09 in pregnancy has been limited...
  66. ncbi Pregnancy in women with Type 2 diabetes: 12 years outcome data 1990-2002
    F Dunne
    Department of Medicine, Division of Medical Sciences, University of Birmingham and Birmingham Women s Hospital Trust, Birmingham, UK
    Diabet Med 20:734-8. 2003
    ..Twelve years' outcome analysis of pregnancies in women with Type 2 diabetes in a multiethnic geographically defined area...
  67. pmc Therapeutic abortion in Islam: contemporary views of Muslim Shiite scholars and effect of recent Iranian legislation
    K M Hedayat
    Sutton Children s Hospital at Christus Schumpert Hospital, Shreveport, Louisiana, USA
    J Med Ethics 32:652-7. 2006
    ..Recent measures in Iran provide an opportunity for the Muslim scholars in other countries to review their traditional stance on abortion...
  68. doi Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)
    Pascal Philibert
    Service d Hormonologie, Hopital Lapeyronie, CHU de Montpellier and Université Montpellier 1, Montpellier, France
    Fertil Steril 95:2683-6. 2011
    ..Interestingly, this mutant partially lacks the capability to repress ovarian steroidogenic enzymes, with abnormal expression of 17α- hydroxylase...
  69. pmc Risk of birth abnormalities in the offspring of men with a history of cancer: a cohort study using Danish and Swedish national registries
    Olof Ståhl
    Department of Clinical Sciences, Molecular Reproductive Medicine Research Unit, Lund University, Malmo, Sweden
    J Natl Cancer Inst 103:398-406. 2011
    ..The potential mutagenic effects of cancer therapies and the growing number of young male cancer survivors have given rise to concern about the health of their offspring...
  70. doi Association between social position and congenital anomalies: a population-based study among 19,874 Danish women
    Charlotte Olesen
    Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark
    Scand J Public Health 37:246-51. 2009
    ..To examine the association between maternal and paternal educational level and household income and the risk of giving birth to a baby with a congenital anomaly in a population of Danish women...
  71. doi Ciliary dysfunction in developmental abnormalities and diseases
    Neeraj Sharma
    Department of Cell Biology, University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama, USA
    Curr Top Dev Biol 85:371-427. 2008
    ..with cilia dysfunction in mammals are diverse and include randomization of the left-right body axis, abnormalities in neural tube closure and patterning, skeletal defects such as polydactyly, cystic kidney, liver, and ..
  72. doi High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
    M Tyreman
    Medical Genetics Department, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    J Med Genet 46:531-41. 2009
    ..The diagnostic use of high resolution array genomic hybridisation analysis for prenatal testing remains to be systematically assessed...
  73. pmc Perinatal mortality and congenital anomalies in babies of women with type 1 or type 2 diabetes in England, Wales, and Northern Ireland: population based study
    Mary C M Macintosh
    Confidential Enquiry into Maternal and Child Health, London NW1 5SD
    BMJ 333:177. 2006
    ..To provide perinatal mortality and congenital anomaly rates for babies born to women with type 1 or type 2 diabetes in England, Wales, and Northern Ireland...
  74. ncbi Outcomes in type 1 diabetic pregnancies: a nationwide, population-based study
    Dorte M Jensen
    Department of Endocrinology, Odense University Hospital, Kløvervaenget 6 DK 5000, Odense, Denmark
    Diabetes Care 27:2819-23. 2004
    ..The aim of this study was to compare pregnancy outcomes in type 1 diabetic pregnancies with the background population...
  75. ncbi Toxic effects of endocrine disrupters on freshwater sponges: common developmental abnormalities
    Malcolm Hill
    Biology Department, Fairfield University, CT 06430, USA
    Environ Pollut 117:295-300. 2002
    ..The utility of freshwater sponge bioassays is discussed as it relates to understanding possible mechanisms of action of endocrine disrupters on aquatic invertebrates...
  76. doi Epidemiology of external birth defects in neonates in Southwestern Nigeria
    T I B Bakare
    Department of Surgery, Federal Medical Centre, OWO, Ondo State, Nigeria
    Afr J Paediatr Surg 6:28-30. 2009
    ..There is paucity of information on the prevalence of birth defects in Nigeria, particularly in our setting. This study determined the epidemiology of external congenital anomalies in Southwest Nigerian children...
  77. ncbi Maternal occupational exposure and risk of specific birth defects
    Ane Marie Thulstrup
    Department of Occupational Medicine, Aarhus University Hospital, Aarhus 8000, Denmark
    Occup Med (Lond) 56:532-43. 2006
    ..A large percentage of the workforce consists of women of reproductive age...
  78. pmc Prenatal exposure to tetrachloroethylene-contaminated drinking water and the risk of congenital anomalies: a retrospective cohort study
    Ann Aschengrau
    Department of Epidemiology, Boston University School of Public Health, Talbot 3E, 715 Albany Street, Boston, MA 02118, USA
    Environ Health 8:44. 2009
    ..Prior animal and human studies of prenatal exposure to solvents including tetrachloroethylene (PCE) have shown increases in the risk of certain congenital anomalies among exposed offspring...
  79. doi Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research
    Alessandra Lisi
    Centre of the International Clearinghouse for Birth Defects Surveillance and Research ICBDSR, Via Carlo Mirabello, 19, 00195 Rome, Italy
    Reprod Toxicol 29:433-42. 2010
    ..Through this activity, international networks of birth defect registries can contribute with limited resources to post-marketing surveillance of the teratogenicity of medications...
  80. doi Tenofovir disoproxil fumarate in pregnancy and prevention of mother-to-child transmission of HIV-1: is it time to move on from zidovudine?
    C Foster
    The Family Clinic, Imperial College NHS Trust, St Mary s Campus, London W2 1NY, UK
    HIV Med 10:397-406. 2009
    ..We explored the current and future roles of tenofovir disoproxil fumarate (TDF) in the prevention of MTCT of HIV-1...
  81. pmc Ambient air pollution and adverse birth outcomes: methodologic issues in an emerging field
    Beate Ritz
    Department of Epidemiology, School of Public Health, University of California, Los Angeles, CA 90095 1772, USA
    Basic Clin Pharmacol Toxicol 102:182-90. 2008
    ..Investigating biological mechanisms (e.g. using ultrasound measurements and biomarkers for hypothesized pathways) is an important remaining issue...
  82. ncbi Do multivitamin supplements attenuate the risk for diabetes-associated birth defects?
    Adolfo Correa
    Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Pediatrics 111:1146-51. 2003
    ..To evaluate whether the risk for birth defects associated with maternal diabetes is attenuated by use of multivitamin supplements during the periconceptional period...
  83. ncbi Elevated birth defects in racial or ethnic minority children of women living near hazardous waste sites
    Maureen Orr
    Agency for Toxic Substances and Disease Registry ATSDR, Division of Health Studies
    Int J Hyg Environ Health 205:19-27. 2002
    ..Special attention should also be paid to those defects and contaminants that consistently are associated with exposure to hazardous waste...
  84. ncbi Methods for a public health response to birth defects clusters
    Laura J Williams
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention CDC, 4770 Buford Highway NE, MS F 45, Atlanta, GA 30345, USA
    Teratology 66:S50-8. 2002
    ..The recommendations in this report should be carefully considered to ensure that the specific needs of the region, agency and affected community are met...
  85. ncbi Congenital malformations in infants born after IVF: a population-based study
    A Ericson
    Epidemiological Center, National Board of Health, SE-106 30 Stockholm, Sweden
    Hum Reprod 16:504-9. 2001
    ..The excess risk for hypospadias after ICSI may be related to paternal subfertility with a genetic background. The absolute risk for a congenital malformation in association with IVF is small...
  86. doi Perinatal risk in singleton pregnancies after in vitro fertilization
    Mai Fujii
    Department of Reproductive Health and Research, Family and Community Health Cluster, World Health Organization, Geneva, Switzerland
    Fertil Steril 94:2113-7. 2010
    ..To assess perinatal risks to singleton births after in vitro fertilization (IVF) versus spontaneous conception...
  87. ncbi Fetal growth and congenital malformations
    A Nikkilä
    Department of Obstetrics and Gynecology, University Hospital, Lund, Sweden
    Ultrasound Obstet Gynecol 29:289-95. 2007
    ....
  88. ncbi The development of Akabane virus-induced congenital abnormalities in cattle
    P D Kirkland
    Pathology Department, Faculty of Medicine, University of Newcastle, New South Wales, Australia
    Vet Rec 122:582-6. 1988
    ..The incidence of virus-induced abnormalities in calves and fetuses was 17.8 per cent (31/174)...
  89. pmc The National Birth Defects Prevention Study
    P W Yoon
    National Center for Environmental Health, Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341-3724, USA
    Public Health Rep 116:32-40. 2001
    ..The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge...
  90. doi HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina
    Arif B Ekici
    Institute for Human Genetics, University Clinic Erlangen, D 91054 Erlangen, Germany
    Gene 518:267-72. 2013
    ..to be 5 per 1000 and associate with infertility, abortion, stillbirth, preterm delivery and other organ abnormalities. Complete aplasia of the uterus, cervix and upper vagina (Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome) has ..
  91. pmc Prevalence of congenital anomalies in infants with in utero exposure to antiretrovirals
    Katherine M Knapp
    Department of Infectious Diseases, St Jude Children s Research Hospital, Memphis, TN 38105 3678, USA
    Pediatr Infect Dis J 31:164-70. 2012
    ..Although use of efficacious interventions, including antiretrovirals (ARVs), has dramatically reduced the rate of mother-to-child transmission of human immunodeficiency virus, the safety of in utero ARV exposure remains of concern...
  92. ncbi Congenital malformations of the inner ear: a classification based on embryogenesis
    R K Jackler
    Laryngoscope 97:2-14. 1987
    Approximately 20% of patients with congenital sensorineural hearing loss have radiographic abnormalities of the inner ear...
  93. ncbi Congenital abnormalities in children born after assisted reproductive techniques: how much is associated with the presence of infertility and how much with its treatment?
    William M Buckett
    Department of Obstetrics and Gynecology, McGill University, Montreal, Quebec, Canada
    Fertil Steril 84:1318-9; discussion 1327. 2005
    ..all assisted reproductive technologies, particularly intracytoplasmic sperm injection (ICSI), and congenital abnormalities, the reasons remain unclear...
  94. pmc Risk of congenital anomalies after the opening of landfill sites
    Stephen R Palmer
    Department of Epidemiology, Statistics and Public Health, Wales College of Medicine, Cardiff, Wales
    Environ Health Perspect 113:1362-5. 2005
    ..Key words: congenital malformations, epidemiology, landfill, small-area health statistics...
  95. ncbi Adverse pregnancy outcomes near landfill sites in Cumbria, northwest England, 1950--1993
    Trevor J B Dummer
    School of Social Science, Liverpool John Moores University, Liverpool, United Kingdom
    Arch Environ Health 58:692-8. 2003
    ..Further research incorporating actual pollution data collected around landfill sites and the examination of both lethal and nonlethal congenital anomalies is recommended..
  96. ncbi Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999
    Mathias B Forrester
    Hawaii Birth Defects Program, Honolulu, Hawaii 96817 5157, USA
    Am J Med Genet A 128:383-8. 2004
    Chromosomal abnormalities are more common in the presence of structural birth defects. However, much of the literature have only provided chromosomal abnormality rates for one or a few structural birth defects at a time...
  97. doi Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women
    Xinyue Chang
    Center for Reproductive Medicine, Provincial Hospital affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China
    Reprod Biomed Online 24:630-3. 2012
    ..This study screened WNT4 for mutation in 189 Chinese women with Müllerian duct abnormalities (10 Mayer-Rokitansky-Küster-Hauser syndrome, five Müllerian aplasia and 174 incomplete Müllerian fusion) ..
  98. ncbi Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities
    Andrew E Czeizel
    Am J Med Genet A 140:453-62. 2006
    ..was to investigate the possible association between nausea and vomiting in early pregnancy and congenital abnormalities. The prevalence of medically-recorded severe nausea and vomiting in early pregnancy in cases with congenital ..
  99. doi Use of specified critical periods of different congenital abnormalities instead of the first trimester concept
    Andrew E Czeizel
    Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary
    Birth Defects Res A Clin Mol Teratol 82:139-46. 2008
    ..and/or 3rd gestational months were evaluated at the analysis of different exposures in different congenital abnormalities. However, different congenital abnormalities have different critical periods...
  100. doi Cancer risk in children with birth defects and in their families: a population based cohort study of 5.2 million children from Norway and Sweden
    Tone Bjørge
    Section for Epidemiology and Medical Statistics, Department of Public Health and Primary Health Care, University of Bergen, N 5018 Bergen, Norway
    Cancer Epidemiol Biomarkers Prev 17:500-6. 2008
    ..Cancer and birth defects may share factors that influence risk. A malformation may involve physiologic changes or changes in lifestyle that might affect cancer risks...
  101. doi Vaccination against H1N1 influenza with Pandemrix(®) during pregnancy and delivery outcome: a Swedish register study
    B Kallen
    Tornblad Institute, University of Lund, Lund, Sweden
    BJOG 119:1583-90. 2012
    ..To describe a large study on pregnancy outcome after vaccination against H1N1 during the 2009/10 pandemic...

Research Grants79

  1. HEPATIC ENCEPHALOPATHY--NEUROPSYCHOLOGY & NEUROCHEMISTRY
    Michael Thomas; Fiscal Year: 2001
    ..These patients display a variety of neuropsychological deficits as well as clinical and serum ammonia abnormalities. Sub-clinical hepatic Encephalopathy (SHE) is a subtler accompaniment of cirrhosis that is associated with ..
  2. Understanding/ Treating Neuropsychiatric Symptoms of Pediatric Physical Illness
    Eva Szigethy; Fiscal Year: 2009
    ..abstract_text> ..
  3. Lauren Endres; Fiscal Year: 2014
    ..I propose to isolate these colonies and assay them for chromosomal abnormalities using spectral karyotyping...
  4. Sogol Mostoufi-Moab; Fiscal Year: 2016
    ..Longitudinal studies are imperative to determine the onset and progression of these abnormalities, and to identify risk factors and therapeutic targets...
  5. Cardiotrophin-Like Cytokine 1, a Candidate Molecule for the FSGS Factor
    Virginia J Savin; Fiscal Year: 2010
    ..FSGS a leading cause of kidney failure in children and causes kidney failure in many adults, as well. Genetic abnormalities are present in some children and adults with FSGS, but there is no known genetic basis for FSGS in most ..
  6. Brain Activation responses in adolescents with genetic predisposition to obesity
    Susan Carnell; Fiscal Year: 2011
    ..She will investigate whether abnormalities in brain activation are already present in the high risk adolescents, suggesting a causal role for these ..
  7. Principles of Therapy in Cerebellar Disease: Explorations in Ion Channel Mutants
    JOHN SAMUEL STAHL; Fiscal Year: 2013
    ..We focus on ocular motility abnormalities in mice carrying mutations of the CACNA1A gene of the P/Q (CaV2...
  8. Effective treatment of sleep apnea in prediabetes to reduce cardiometabolic risk
    Esra Tasali; Fiscal Year: 2010
    ..normal glucose tolerance and overt diabetes, characterized by elevated glucose levels, insulin resistance and abnormalities in insulin secretion...
  9. Tyrosine Availability Influences Mesocortico-Limbic Catecholamines
    GEORGE EUGENE JASKIW; Fiscal Year: 2012
    ..and to develop better treatments There are multiple factors contributing to schizophrenia and many brain-based abnormalities that have been targeted for drug development...
  10. NICOLE RENEE TARTAGLIA; Fiscal Year: 2015
    ..and collaborators with broad and successful research careers in psychology, outcomes in sex chromosomal abnormalities, endocrinology, clinical trials, genotype-phenotype studies, neurogenetic syndromes, developmental ..
  11. Role of SAMe on UBC9 and sumolyation in liver cancer and alcoholic liver injury
    Maria Lauda Tomasi; Fiscal Year: 2012
    ..are increased during the development of alcoholic liver injury and they may contribute to many of the abnormalities seen...
  12. Role of Txnip in adapting fuel metabolism to nutritional state
    SIMON HUI; Fiscal Year: 2013
    ..that impaired mitochondrial oxidation in the muscle is the major contributor leading to these metabolic abnormalities. To compensate for energy deficiency, glucose uptake and glycolysis are elevated...
  13. JAMES RUSSELL SOWERS; Fiscal Year: 2015
    ..mechanisms, such as enhanced activation of the renin- angiotensin-system (RAS), inflammation, and associated abnormalities in INS metabolic signaling, may help explain the linkage between INS resistance and hypertension...
  14. Jonathan Savitz; Fiscal Year: 2016
    ..Institute for Brain Research (LIBR) focusing on bridging the gap between immune dysfunction and neuroimaging abnormalities in major depressive disorder (MDD)...
  15. Susan Carnell; Fiscal Year: 2015
    ..She will investigate whether abnormalities in brain activation are already present in the high risk adolescents, suggesting a causal role for these ..
  16. METABOLIC SYNDROME AND PERIODONTITIS IN POSTMENOPAUSAL WOMEN
    Michael J LaMonte; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Metabolic syndrome (Metsyn) is a condition of coexisting abnormalities in glucose, lipid, blood pressure, and body fat homeostasis, that affects more than half of U.S. adults 55 years and older...
  17. Bayar Thimmapaya; Fiscal Year: 2016
    ..These processes, when unconstrained, are linked to metabolic abnormalities and cancer...
  18. Role of Polyamines in MYCN-Amplified Neuroblastoma
    ANDRE BACHMANN; Fiscal Year: 2009
    ..One of the most striking abnormalities found in NB tumors is the amplification of the MYCN oncogene, which strongly correlates with more aggressive ..
  19. RALPH FRANK FREGOSI; Fiscal Year: 2016
    ..infants is associated with an abnormally high incidence of breathing, feeding, swallowing and cardiovascular abnormalities that affects the health and well-being of millions of human infants in infancy and childhood...
  20. Patient-Derived Stem Cells for Phosphoproteomic Profiling Neuropsychopathology
    Dieter A Wolf; Fiscal Year: 2011
    ..comprehensive proteomic/phosphoproteomic analyses of these iPSCs and their neural derivatives, to discover molecular underpinnings of the abnormalities in BPD patients, as well as potential targets for improved diagnosis and treatment.
  21. Robert T Means; Fiscal Year: 2014
    ..functions of hepcidin, as well as the anemia syndromes observed in patients and transgenic animals with abnormalities of hepcidin gene expression (discussed below), have led many to consider that it is the key to unlocking "the ..
  22. Paul E Micevych; Fiscal Year: 2016
    ..This type of infertility exhibits excess estrogen production without ovulation that can lead to polycystic ovary syndrome, irregular vaginal bleeding, metabolic abnormalities as well as endometrial polyps, hyperplasia, and even cancer.
  23. Samuel D Crish; Fiscal Year: 2016
    ..Specific aim 2 will use techniques to identify cytoskeletal abnormalities in relation to neurobiological outcome measures including: 1) loss of anterograde axonal transport using ..
  24. Pathobiology of Cystic Fibrosis-Related Diabetes in a Ferret Model
    Zoe Stewart; Fiscal Year: 2013
    ..Elevating GI pH appears to attenuate nutritional abnormalities, as the use of proton-pump inhibitors (PPIs) normalizes weight gain during the neonatal period...
  25. Regulation of epithelial cell homeostasis by actin microfilaments
    Seema Khurana; Fiscal Year: 2010
    ..b>Abnormalities in apoptotic function contribute to both the pathogenesis of colorectal cancer as well as its resistance to ..
  26. Chronic Sleep Restriction Increases Immunity to Autoantigen: Role of the SNS
    Arnold E Postlethwaite; Fiscal Year: 2010
    ..This grant proposal will study several potential abnormalities of the immune system caused by chronic loss of sleep in the mouse model of human RA and how the sympathetic ..
  27. Combination drug treatment to inhibit multiple cell death pathways after TBI
    ALAN IRA FADEN; Fiscal Year: 2010
    ..trauma associated with a decreased level of consciousness, amnesia, other neurologic or neuropsychological abnormalities, skull fracture, intracranial lesions, or death...
  28. Sharon M Moe; Fiscal Year: 2014
    ..acid, by improving both bone remodeling and VEGF expression in bone and vasculature, may correct the abnormalities of CKD-MBD...
  29. CHIH CHANG KEVIN WEI; Fiscal Year: 2014
    ....
  30. Twenty-second Annual Fanconi Anemia Research Fund Scientific Symposium
    GROVER CARLTON BAGBY; Fiscal Year: 2010
    ..Advances made in FA science have an impact beyond affected patients and families. Acquired abnormalities of FA genes and FA gene expression have been reported in patients with sporadic malignancies of plasma cells, ..
  31. Gene Therapy with Cardiotropic Vectors for the Treatment of Heart Failure
    Roger J Hajjar; Fiscal Year: 2013
    ..One of the key abnormalities in both human and experimental HF is a defect in sarcoplasmic reticulum (SR) function, which is responsible ..
  32. Conference on Autonomic Regulation of Cardiovascular Function in Health and Disea
    Martin Frank; Fiscal Year: 2012
    ..In this conference we will specifically focus on disorders that have been characterized as involving abnormalities in sympathetic regulation...
  33. ALTERED CARDIAC MYOCYTE SIGNALING IN DIABETIC MYOCARDIUM AND FUNCTIONAL SEQUELAE
    ANTHONY JUSTIN MUSLIN; Fiscal Year: 2010
    ..In this proposal, we investigate whether defective Akt2 action is responsible for the heart abnormalities that develop in diabetes...
  34. 24th Annual Fanconi Anemia Research Fund Scientific Symposium
    GROVER CARLTON BAGBY; Fiscal Year: 2012
    ..Acquired abnormalities of FA genes and FA gene expression have been reported in patients with sporadic malignancies of plasma cells, ..
  35. Epigenomic Events in Development of the Locus Coeruleus Noradrenergic Neurons
    Jan Krzysztof Blusztajn; Fiscal Year: 2012
    ..b>Abnormalities of the LCNN are thought to contribute to the symptoms of attention deficit hyperactivity disorder, depression, ..
  36. Functional Analysis of the Dual Specificity Kinase NEK1 in Mammalian Meiosis
    JOANNA KIM HOLLOWAY; Fiscal Year: 2011
    ..show severe developmental defects, not only in their fertility, but also show growth defects, cranial-facial abnormalities and polycystic kidney disease...
  37. Lactoferrin Enhances Growth and Reduces Nosocomial Infection in Preterm Infants
    Karel Petrak; Fiscal Year: 2009
    ..by determining the incidence and severity of adverse clinical events including laboratory and radiographic abnormalities. It is anticipated that adverse events might not be related to TLF, but rather to preterm birth, and TLF may ..
  38. Genetic Studies of Optic Atrophy
    Taosheng Huang; Fiscal Year: 2012
    ..Our preliminary results also show that some OPA1 mutations cause loss of vision, hearing, and other organ abnormalities. The hearing loss is associated with asynchronous cochlear conduction and cochlear implants provide remarkable ..
  39. Unbiased genome-wide screen to identify genes regulating mucous cell hyperplasia
    Jeffrey A Whitsett; Fiscal Year: 2010
    ..Goblet cell hyperplasia and abnormalities of mucous cell secretion and function accompany and contribute to the pathogenesis of common pulmonary ..
  40. Chemical modulators of Tet-family proteins
    Anjana Rao; Fiscal Year: 2010
    ..Abnormal production, distribution and recognition of 5mC have been linked to developmental abnormalities and genetic diseases, including Rett syndrome, an autism spectrum disorder...
  41. Alvaro Puga; Fiscal Year: 2015
    ..diabetes, endometriosis, neurocognitive deficits, immunotoxicity and especially, cardiac developmental abnormalities. Two central questions that need to be addressed in this context are, (i), what are the mechanisms responsible ..
  42. Nitric Oxide in Hemodialysis AV Fistula Maturation
    Richard A Cohen; Fiscal Year: 2010
    ..We will identify abnormalities in nitric oxide function, oxidant production, and intracellular calcium control that dictate smooth muscle ..
  43. Howard B Lieberman; Fiscal Year: 2016
    ..highly expressed in certain prostate cancer cell lines because of chromatin structure, promoter methylation abnormalities or mutation, and bind more tightly to Rad9 only in DU145, AVLA31 and AVLA41 versus other cancer cell lines due ..
  44. Mechanims of CNS Autonomic Regulation by EA
    John C Longhurst; Fiscal Year: 2013
    ..PUBLIC HEALTH RELEVANCE: Project Narrative Blood pressure abnormalities are major risk factors for coronary artery disease, stroke, congestive heart failure and syncope...
  45. Y S Prakash; Fiscal Year: 2016
    ..PUBLIC HEALTH RELEVANCE. There is increasing recognition that abnormalities in airway smooth muscle contractility (exacerbated by inflammation) contribute to exaggerated airway narrowing ..
  46. Chou Zen Giam; Fiscal Year: 2014
    ..They, however, develop dramatic nuclear abnormalities in the form of multinucleation and DNA aneuploidy...
  47. Huaizhu Wu; Fiscal Year: 2016
    ..role of CD11c in AT inflammation including macrophage and T cell accumulation and activation;and in metabolic abnormalities in mice with HF diet-induced obesity...
  48. Identification of Compounds to treat Charcot-Marie-Tooth type 2E neuropathy
    RONALD K LIEM; Fiscal Year: 2010
    ..Among the symptoms of CMT are foot-drop, steppage gait, high arches, foot bone abnormalities, and basic problems with hand function, as well as sometimes breathing difficulties...
  49. Impaired mitochondrial fusion in pulmonary arterial hypertension
    Stephen L Archer; Fiscal Year: 2010
    ..Despite recent therapeutic advances, 1-year mortality rates remains high (~15%). Although abnormalities of the platelets, endothelium and adventitia contribute critically to the pathogenesis of PAH, excessive ..
  50. Mouse models of genomic instability and birth defects
    CATHERINE ELIZABETH KEEGAN; Fiscal Year: 2013
    ..acd mutant embryos exhibit growth retardation, widespread apoptosis, vascular patterning defects, and abnormalities in hematopoietic stem cell populations...
  51. Nanoemulsion-based vaccine for chronic hepatitis B virus
    James R Baker; Fiscal Year: 2010
    ..while generally effective are less useful in high-risk populations with renal disease or other immunological abnormalities. In addition, the current alum-based vaccine does not induce the type of cell-mediated immunity necessary to ..
  52. Potential Mechanisms of Glucagon-like peptide-1 in Fatty Liver Disease
    Frank A Anania; Fiscal Year: 2010
    ..of this work will provide potential treatment for fatty liver disease, the most common cause of liver function abnormalities in the United States...
  53. Jason H Mateika; Fiscal Year: 2016
    ..nervous system activity (PNSA) could ultimately lead to persistent increases in blood pressure and heart rate abnormalities. Furthermore, given that exposure to IH may lead to long-term plasticity of respiratory and autonomic activity ..
  54. Analysis of the role of the VRK1 protein kinase in mammalian fertility
    Paula Traktman; Fiscal Year: 2011
    ..Errors in gametogenesis have consequences that range from infertility to the transmission of chromosome abnormalities to the next generation...
  55. JAMES RUSSELL SOWERS; Fiscal Year: 2016
    ..mechanisms, such as enhanced activation of the renin-angiotensin-aldosterone-system (RAAS) and associated abnormalities in INS metabolic signaling, may help explain the linkage between INS resistance and hypertension...
  56. Novel Zebrafish Models to Study Toxicity of PCBs and Pesticides During Pregnancy
    Lisa Satterwhite; Fiscal Year: 2009
    ..defects, including one baby born without limbs, another with severe facial defects and associated heart abnormalities, and a third lacking reproductive structures who died shortly after birth;all birth defects were associated ..
  57. Molecular Biology of Human Erythrocyte Alpha Spectrin
    Patrick G Gallagher; Fiscal Year: 2013
    ..b>Abnormalities of ?-spectrin are associated with inherited hemolytic anemia, which is sometimes severe...
  58. Robert L Nussbaum; Fiscal Year: 2014
    ..syndrome of (LOCR) is a rare X-linked disorder of congenital cataracts, mental retardation, behavioral abnormalities, and renal tubulopathy...
  59. Epithelial differentiation in cornea
    Bogi Andersen; Fiscal Year: 2012
    ..profiling to characterize the molecular changes occurring at the initiation and during progression of corneal abnormalities in the K14-DN-Clim mice...
  60. Mechanisms of Bone Loss from Administration of the Second-Generation Antipsychoti
    KATHERINE JEAN MOTYL; Fiscal Year: 2013
    ..administration in 8, 12 and 16 week old female mice and draw associations between bone changes and metabolic abnormalities, estrus cycling, and prolactin levels;I will also treat 4-week old mice for 4 weeks and observe changes in ..
  61. Pharmacologic Interventions for Cardiovascular Disease in Obstructive Sleep Apnea
    Barbara J Morgan; Fiscal Year: 2013
    ..that reduce sympathetic overactivity, potentially reduce OSA severity, and minimize associated cardiovascular abnormalities in patients with OSA...
  62. SUSAN F KEAY; Fiscal Year: 2016
    ..Epithelial abnormalities are the most consistent findings in bladder biopsies from BPS/IC patients, including denudation, tears, or ..
  63. MECHANISMS OF MILK LIPID SECRETION
    JAMES LEWIS MCMANAMAN; Fiscal Year: 2013
    ..formation and metabolism of CLD as proposed in this application is essential to understanding the molecular abnormalities contributing the pathophysiology of lipid metabolism disorders...
  64. The Prevalence of Blood Pressure Abnormalities among Veterans with SCI
    Jill Wecht; Fiscal Year: 2009
    ..However the prevalence of blood pressure abnormalities in this population is not well described, and the magnitude of increased healthcare use and cost associated ..
  65. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2010
    ..Research Craniofacial malformations are extremely common, identified in three quarters of all congenital abnormalities identified at birth...
  66. Validation of a functional MRI-based reward processing task as a non-invasive too
    MARY LOUISE PHILLIPS; Fiscal Year: 2010
    ..Better understanding of abnormalities in neurotransmitter function associated with functional abnormalities in reward systems observed in these ..
  67. Rapid High-Resolution Electroanatomical Cardiac Mapping System for the Treatment
    DORON HARLEV; Fiscal Year: 2009
    ..in the last few decades, mirroring an alarming increase in all forms of heart disease known to promote rhythm abnormalities. Atrial fibrillation alone has reached epidemic proportions, estimated to currently afflict ~2...
  68. Lymphangiogenesis and Angiogenesis in Airway Inflammation
    Donald McDonald; Fiscal Year: 2009
    ..The overall hypothesis is that abnormalities in mucosal lymphatics and blood vessels contribute in multiple ways to the pathophysiology of airway ..
  69. Inhibin/Activin Family in Human Cranifocial Development
    Geralyn Messerlian; Fiscal Year: 2003
    The etiology of craniofacial abnormalities is multi-factorial and defects such as cleft palate often occur in the absence of a known cause...
  70. Nitric Oxide in Pulmonary Hypertension
    Serpil Erzurum; Fiscal Year: 2009
    ..arterial hypertension (PAH) is a fatal disease associated with increased pulmonary artery pressure (PAP) and abnormalities in blood vessel growth. The excessive growth of the vascular endothelial cells is the focus of our research...
  71. Immune Tolerance and Autoimmunity
    Abul K Abbas; Fiscal Year: 2010
    ..Abbas). The aims of this project are to define: 1. signaling abnormalities and the roles of known immune regulators and cytokines (IFN-y, IL-2) in T cell anergy and deletion induced by ..
  72. Novel 3D Catheter Tracking System for Intracardiac Navigation
    DORON HARLEV; Fiscal Year: 2009
    ..decades, mirroring an alarming increase in all forms of heart disease known to trigger and perpetuate rhythm abnormalities. Atrial fibrillation alone has reached epidemic proportions, estimated to currently afflict ~2...
  73. Correction of neural abnormalities in Hurler syndrome
    Pankaj Gupta; Fiscal Year: 2003
    ..These neuro-psychological abnormalities are not adequately corrected by hematopoietic stem cell transplantation (via bone marrow transplantation; BMT)...
  74. Chronic ethanol, B cell competence and lymphoid integrity
    Thomas J Waldschmidt; Fiscal Year: 2010
    ..Of particular interest, extended alcohol intake leads to abnormalities within the B cell compartment with reduced B cell numbers, poor antibody (Ab) responses and aberrant ..
  75. HPA Axis in Depression and Anxiety
    Elizabeth Young; Fiscal Year: 2005
    ..Future studies proposed in this application will continue to explore hormonal abnormalities in depression and also in related anxiety disorders, panic disorder and PTSD...
  76. Shumei S Sun; Fiscal Year: 2015
    ..In view of the close association of obesity and hypertension and of the association of hypertension with abnormalities of cardiac structure and function, it would be of public health importance to ascertain if childhood obesity ..