Genetic epidemiology of cardiovascular malformations

[1]  S. Leal,et al.  Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability , 2005, American journal of medical genetics. Part A.

[2]  J. Belmont,et al.  Echocardiographic Evaluation of Asymptomatic Parental and Sibling Cardiovascular Anomalies Associated With Congenital Left Ventricular Outflow Tract Lesions , 2004, Pediatrics.

[3]  K. Jones,et al.  The 11q terminal deletion disorder: A prospective study of 110 cases , 2004, American journal of medical genetics. Part A.

[4]  M. Werler,et al.  Maternal use of acetaminophen and nonsteroidal anti-inflammatory drugs (NSAIDs), and muscular ventricular septal defects. , 2004, Birth defects research. Part A, Clinical and molecular teratology.

[5]  J. Hoffman,et al.  Prevalence of congenital heart disease. , 2004, American heart journal.

[6]  S. Rasmussen,et al.  Public health approach to birth defects, developmental disabilities, and genetic conditions , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[7]  J. Erickson,et al.  Vitamin supplements and the risk for congenital anomalies other than neural tube defects , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[8]  H. Dolk Epidemiologic approaches to identifying environmental causes of birth defects , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[9]  A. Giardini,et al.  Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review. , 2004, Pediatrics.

[10]  A. Chokkalingam,et al.  Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d‐transposition of the great arteries , 2004, American journal of medical genetics. Part A.

[11]  J. Hoffman,et al.  Incidence of congenital heart disease: II. Prenatal incidence , 1995, Pediatric Cardiology.

[12]  J. Hoffman,et al.  Incidence of congenital heart disease: I. Postnatal incidence , 1995, Pediatric Cardiology.

[13]  J. Belmont,et al.  Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects , 2022 .

[14]  A. Correa,et al.  Decreasing the burden of congenital heart anomalies: an epidemiologic evaluation of risk factors and survival , 2003 .

[15]  B. Salbert Cardiovascular genetics—redefining the role of the clinical geneticist , 2003 .

[16]  G. Shaw,et al.  Maternal periconceptional alcohol consumption and risk for conotruncal heart defects. , 2003, Birth defects research. Part A, Clinical and molecular teratology.

[17]  J. Simpson,et al.  Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography. , 2003, Journal of the American College of Cardiology.

[18]  J. Mulinare,et al.  Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps , 2003, American journal of medical genetics. Part A.

[19]  A. Giannotti,et al.  Truncus arteriosus and duplication 8q , 2003, American journal of medical genetics. Part A.

[20]  Jonathan C. Cohen,et al.  GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 , 2003, Nature.

[21]  Lorenzo D Botto,et al.  A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. , 2003, Pediatrics.

[22]  Martin Vingron,et al.  Genome-Wide Array Analysis of Normal and Malformed Human Hearts , 2003, Circulation.

[23]  J. Belmont,et al.  Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions , 2003, American journal of medical genetics. Part A.

[24]  C. Maslen,et al.  Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. , 2003, American journal of human genetics.

[25]  S. Rasmussen,et al.  Guidelines for case classification for the National Birth Defects Prevention Study. , 2003, Birth defects research. Part A, Clinical and molecular teratology.

[26]  Taosheng Huang Current advances in Holt-Oram syndrome. , 2002, Current opinion in pediatrics.

[27]  I. Krantz,et al.  Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome , 2002, Circulation.

[28]  A. Lin,et al.  Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene , 2002, Genetics in Medicine.

[29]  G. Shaw,et al.  Integration of DNA sample collection into a multi-site birth defects case-control study. , 2002, Teratology.

[30]  B. D. de Vries,et al.  A new case of dup(3q) syndrome due to a pure duplication of 3qter , 2002, Clinical genetics.

[31]  D. Hanauer,et al.  Rubinstein-Taybi syndrome and hypoplastic left heart. , 2002, American journal of medical genetics.

[32]  D. Brunoni,et al.  CFC index for the diagnosis of cardiofaciocutaneous syndrome. , 2002, American journal of medical genetics.

[33]  M. Ackerman,et al.  Cardiac phenotype in the chromosome 22q11.2 microdeletion syndrome , 2002 .

[34]  E. Zackai,et al.  Further delineation of cardiac abnormalities in Costello syndrome. , 2002, American journal of medical genetics.

[35]  M. Kähkönen,et al.  Cardiovascular manifestations in 75 patients with Williams syndrome , 2002, Journal of medical genetics.

[36]  J. Mulinare,et al.  Maternal Fever, Multivitamin Use, and Selected Birth Defects: Evidence of Interaction? , 2002, Epidemiology.

[37]  J. Hoffman,et al.  The incidence of congenital heart disease. , 2002, Journal of the American College of Cardiology.

[38]  B. Morrow,et al.  Genomic disorders on 22q11. , 2002, American journal of human genetics.

[39]  B. McManus,et al.  Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force , 2002, Genetics in Medicine.

[40]  Shiliang Liu,et al.  Relationship of prenatal diagnosis and pregnancy termination to overall infant mortality in Canada. , 2002, JAMA.

[41]  Guanabara Koogan 2. JONES,K.L. Smith's Recognizable Patterns of Human Malformation. Philadelphia, W.B. Saunders Company. 1997. , 2002 .

[42]  R. Pyeritz,et al.  Genetic counseling for congenital heart disease: New approaches for a new decade , 2002, Current cardiology reports.

[43]  A. Battaglia,et al.  Wolf-Hirschhorn (4p-) syndrome. , 2005, Advances in pediatrics.

[44]  G. Pai,et al.  Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. , 2001, American journal of medical genetics.

[45]  C. Loffredo,et al.  Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants. , 2001, Teratology.

[46]  R. Junker,et al.  Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. , 2001, Cardiovascular research.

[47]  E. Zackai,et al.  Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. , 2001, Journal of the American College of Cardiology.

[48]  J. David Erickson,et al.  Mortality Associated With Congenital Heart Defects in the United States: Trends and Racial Disparities, 1979–1997 , 2001, Circulation.

[49]  P. Guldberg,et al.  Congenital Heart Disease in Maternal Phenylketonuria: Report from the Maternal PKU Collaborative Study , 2001, Pediatric Research.

[50]  M. Berends,et al.  Phenotypic variability of Cat-Eye syndrome. , 2001, Genetic counseling.

[51]  K. Wenstrom,et al.  Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. , 2001, American journal of obstetrics and gynecology.

[52]  J. Graham A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. , 2001, American journal of medical genetics.

[53]  J D Erickson,et al.  Racial and temporal variations in the prevalence of heart defects. , 2001, Pediatrics.

[54]  C. Kozma Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature. , 2001, American journal of medical genetics.

[55]  L D Edmonds,et al.  The National Birth Defects Prevention Study , 2001, Public health reports.

[56]  C. Loffredo Epidemiology of cardiovascular malformations: prevalence and risk factors. , 2000, American journal of medical genetics.

[57]  C. Romano,et al.  Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. , 2000, American journal of medical genetics.

[58]  J. Cragan,et al.  Effect of Prenatal Diagnosis on Epidemiologic Studies of Birth Defects , 2000, Epidemiology.

[59]  E. Green,et al.  Detailed mapping of a congenital heart disease gene in chromosome 3p25 , 2000, Journal of medical genetics.

[60]  B. Schwartz,et al.  Preparing for elimination of congenital Rubella syndrome (CRS): summary of a workshop on CRS elimination in the United States. , 2000, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

[61]  A. Fryer,et al.  Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. , 2000, Clinical dysmorphology.

[62]  J. Mulinare,et al.  Occurrence of congenital heart defects in relation to maternal mulitivitamin use. , 2000, American journal of epidemiology.

[63]  L. Holmes,et al.  Heterotaxy: Associated conditions and hospital-based prevalence in newborns , 2000, Genetics in Medicine.

[64]  R. van Praagh,et al.  Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. , 2000, The American journal of cardiology.

[65]  C. Mavroudis,et al.  Congenital Heart Surgery Nomenclature and Database Project: overview and minimum dataset. , 2000, The Annals of thoracic surgery.

[66]  B. Marino,et al.  Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. , 1999, The Journal of pediatrics.

[67]  H. Blom,et al.  Congenital heart defects and maternal derangement of homocysteine metabolism. , 1999, The Journal of pediatrics.

[68]  J. Seidman,et al.  Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. , 1999, The Journal of clinical investigation.

[69]  S. Shapiro,et al.  Multivitamin supplementation and risk of birth defects. , 1999, American journal of epidemiology.

[70]  S. Hilsenbeck,et al.  Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. , 1999 .

[71]  J. Seidman,et al.  Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. , 1999, Developmental biology.

[72]  M. Digilio,et al.  Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. , 1999, American journal of medical genetics.

[73]  R. Hennekam,et al.  Associations between chromosomal anomalies and congenital heart defects: a database search. , 1999, American journal of medical genetics.

[74]  L B Holmes,et al.  Cardiovascular malformations: changes in prevalence and birth status, 1972-1990. , 1999, American journal of medical genetics.

[75]  E. Zackai,et al.  Jagged1 mutations in patients ascertained with isolated congenital heart defects. , 1999, American journal of medical genetics.

[76]  R. Weksberg,et al.  Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. , 1999, American journal of medical genetics.

[77]  P. Marynen,et al.  Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. , 1999, American journal of human genetics.

[78]  S. Garrett,et al.  GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. , 1999, American journal of medical genetics.

[79]  K. Devriendt,et al.  The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. , 1999, Genetic counseling.

[80]  P. Yoon,et al.  Impact of prenatal diagnosis and elective termination on the prevalence of selected birth defects in Hawaii. , 1998, American journal of epidemiology.

[81]  K. Jones,et al.  Maternal fever and birth outcome: a prospective study. , 1998, Teratology.

[82]  L. Holmes,et al.  Adams-Oliver syndrome associated with cardiovascular malformations. , 1998, Clinical dysmorphology.

[83]  A. Teebi,et al.  Keutel syndrome: further characterization and review. , 1998, American journal of medical genetics.

[84]  C. Torfs,et al.  Anomalies in Down syndrome individuals in a large population-based registry. , 1998, American journal of medical genetics.

[85]  A. Czeizel Periconceptional folic acid containing multivitamin supplementation. , 1998, European journal of obstetrics, gynecology, and reproductive biology.

[86]  J L Michel,et al.  CHARGE syndrome: report of 47 cases and review. , 1998, American journal of medical genetics.

[87]  M. Digilio,et al.  Deletion 8p syndrome. , 1998, American journal of medical genetics.

[88]  P. Brennan,et al.  Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study , 1998, The Lancet.

[89]  A. Garson,et al.  The Science and Practice of Pediatric Cardiology , 1998 .

[90]  W. Willett,et al.  Preconceptional folate intake and malformations of the cardiac outflow tract. Baltimore-Washington Infant Study Group. , 1998, Epidemiology.

[91]  M. Khoury,et al.  The spectrum of congenital anomalies of the VATER association: an international study. , 1997, American journal of medical genetics.

[92]  A. Hing,et al.  Chromosome abnormalities in congenital heart disease. , 1997, American journal of medical genetics.

[93]  A. Lin,et al.  Cardiovascular malformations in Smith-Lemli-Opitz syndrome. , 1997, American journal of medical genetics.

[94]  Robert H. Anderson,et al.  Sequential segmental analysis - description and categorization for the millennium , 1997, Cardiology in the Young.

[95]  D. Rimoin Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics , 1997 .

[96]  K. Jones,et al.  Smith's Recognizable Patterns of Human Malformation , 1996 .

[97]  M. Pierpont,et al.  Variation in severity of cardiac disease in Holt-Oram syndrome. , 1996, American journal of medical genetics.

[98]  S. Lipshultz,et al.  Clinical approach to genetic cardiomyopathy in children. , 1996, Circulation.

[99]  L N J Archer,et al.  Heart Disease in Infants, Children and Adolescents including the Fetus and Young Adult , 1996 .

[100]  G. Shaw,et al.  Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. , 1995, American journal of medical genetics.

[101]  C. Stevens,et al.  Cardiac abnormalities in the Rubinstein-Taybi syndrome. , 1995, American journal of medical genetics.

[102]  C. Lehman,et al.  Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. , 1995, Radiology.

[103]  A. Lin,et al.  Need for greater precision in reporting cardiovascular malformations. , 1994, American journal of medical genetics.

[104]  L. Jackson,et al.  de Lange syndrome: a clinical review of 310 individuals. , 1993, American journal of medical genetics.

[105]  Anil Kumar,et al.  Pattern of cardiac malformation in oculoauriculovertebral spectrum. , 1993, American journal of medical genetics.

[106]  T. Beaty,et al.  Fundamentals of Genetic Epidemiology , 1993 .

[107]  C. Ferencz Epidemiology of congenital heart disease : The Baltimore-Washington Infant Study 1981-1989 , 1993 .

[108]  A. Czeizel,et al.  Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. , 1992, The New England journal of medicine.

[109]  J. Cordero Registries of birth defects and genetic diseases. , 1992, Pediatric clinics of North America.

[110]  David L. Rimoin,et al.  Principles and Practice of Medical Genetics , 1990 .

[111]  J. Smallhorn,et al.  Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18. , 1990, Journal of the American College of Cardiology.

[112]  B. McManus,et al.  Cardiac malformations in trisomy-18: a study of 41 postmortem cases. , 1989, Journal of the American College of Cardiology.

[113]  W. Lenz A short history of thalidomide embryopathy. , 1988, Teratology.

[114]  S. Clarren,et al.  Verification of the fetal valproate syndrome phenotype. , 1988, American journal of medical genetics.

[115]  J. Opitz,et al.  Familial risks of congenital heart defect assessed in a population-based epidemiologic study. , 1987, American journal of medical genetics.

[116]  E. Zackai,et al.  Congenital heart disease in supernumerary der(22), t(11;22) syndrome , 1986, Clinical genetics.

[117]  D. Weaver,et al.  The VATER Association: Analysis of 46 Patients , 1986 .

[118]  Lammer Ej,et al.  Retinoic Acid Embryopathy , 1985 .

[119]  J A Brown,et al.  Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. , 1983, The Journal of pediatrics.

[120]  Robert J. Gorlin,et al.  Syndromes of the Head and Neck , 1976 .

[121]  David W. Smith,et al.  The VATER association , 1973 .

[122]  J. Nora,et al.  Multifactorial Inheritance Hypothesis for the Etiology of Congenital Heart Diseases: The Genetic‐Environmental Interaction , 1968, Circulation.