Congenital Abnormalities

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  Subject Areas on Research

  • A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. 
  • A copy number variation morbidity map of developmental delay. 
  • AIUM practice guideline for the performance of obstetric ultrasound examinations. 
  • Adjusting for bias due to incomplete case ascertainment in case-control studies of birth defects. 
  • An analysis of the obstetric outcome of 125 consecutive pregnancies conceived in vitro and resulting in 100 deliveries. 
  • Artificial Intelligence Models Predict Operative Versus Nonoperative Management of Patients with Adult Spinal Deformity with 86% Accuracy. 
  • Assessment of risk factors for infantile cataracts using a case-control study: National Birth Defects Prevention Study, 2000-2004. 
  • Attitudes of paediatric and obstetric specialists towards prenatal surgery for lethal and non-lethal conditions. 
  • Blind-ending branches of bifid ureters. 
  • Bronchopulmonary foregut malformations presenting as mass lesions in children: spectrum of imaging findings. 
  • Burden of Neonatal Surgical Conditions in Northern Ghana. 
  • CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. 
  • Cancer risk in children and adolescents with birth defects: a population-based cohort study. 
  • Care of the surgical intensive care nursery graduate. The primary care pediatrician's perspective. 
  • Causes and timing of death in extremely premature infants from 2000 through 2011. 
  • Cell Saver for Adult Spinal Deformity Surgery Reduces Cost. 
  • Cesarean delivery for fetal malformations. 
  • Characteristics that predict locating and interviewing mothers identified by a state birth defects registry and vital records. 
  • Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research. 
  • Comparison of residential geocoding methods in population-based study of air quality and birth defects. 
  • Computed tomography of partial anomalous pulmonary venous connection in adults. 
  • Computerized tomographic diagnosis of massive hydronephrosis of duplicated system in an adult. 
  • Congenital anomalies of the inferior vena cava: embryogenesis and MR features. 
  • Defects in ankyrin-based cellular pathways in metazoan physiology. 
  • Disposition of sperm donors with resultant abnormal pregnancies. 
  • Dose-dependent number of implants and implications in developmental toxicity. 
  • Editorial: Viral Infection at the Maternal-Fetal Interface. 
  • Effects of single and combined exposures to benzo(a)pyrene and 3,3'4,4'5-pentachlorobiphenyl on EROD activity and development in Fundulus heteroclitus. 
  • Effects of the polycyclic aromatic hydrocarbon heterocycles, carbazole and dibenzothiophene, on in vivo and in vitro CYP1A activity and polycyclic aromatic hydrocarbon-derived embryonic deformities. 
  • From the Johns Hopkins Baby to Baby Miller: what have we learned from four decades of reflection on neonatal cases? 
  • Global perspective of paediatric surgery in low and middle income countries. 
  • Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. 
  • Images in Anesthesiology: Laryngeal Cleft. 
  • Impact of Missing Data for Body Mass Index in an Epidemiologic Study. 
  • Impact of case type, length of stay, institution type, and comorbidities on Medicare diagnosis-related group reimbursement for adult spinal deformity surgery. 
  • Influence of paternal age, smoking, and alcohol consumption on congenital anomalies. 
  • Introduction: Adult spinal deformity: pathophysiology and corrective measures. 
  • Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the North Carolina Cleft Outcomes Study. 
  • Late "adult form" scimitar syndrome presenting with "infant form" complications. 
  • MRI of absent left pulmonary artery. 
  • Major congenital malformations among neonatal referrals to a Nigerian university hospital. 
  • Malposition of the attached portion of the falx cerebri and the superior sagittal sinus. An indicator of severe cerebral maldevelopment. 
  • Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 
  • Maternal Occupational Oil Mist Exposure and Birth Defects, National Birth Defects Prevention Study, 1997⁻2011. 
  • Maternal food insecurity is associated with increased risk of certain birth defects. 
  • Maternal occupation as a nail technician or hairdresser during pregnancy and birth defects, National Birth Defects Prevention Study, 1997-2011. 
  • Medical Complications After Adult Spinal Deformity Surgery: Incidence, Risk Factors, and Clinical Impact. 
  • Methodology to correct for differential misclassification. 
  • Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study. 
  • NIEHS/EPA Workshops. Growth and differentiation factors. 
  • Neural mechanisms of functional impairment across the lifespan: The 15th Biennial Meeting of the International Neurotoxicology Association and 39th Annual Meeting of the Neurobehavioral Teratology Society. 
  • Nonparametric Bayes modeling for case control studies with many predictors. 
  • Partially anomalous pulmonary venous connection: demonstration of dual drainage allowing nonsurgical correction. 
  • Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study. 
  • Patient Satisfaction After Adult Spinal Deformity Surgery Does Not Strongly Correlate With Health-Related Quality of Life Scores, Radiographic Parameters, or Occurrence of Complications. 
  • Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. 
  • Potential of predictive computer models for preoperative patient selection to enhance overall quality-adjusted life years gained at 2-year follow-up: a simulation in 234 patients with adult spinal deformity. 
  • Pregnancy Outcomes in Subjects Exposed to Certolizumab Pegol. 
  • Prenatal diagnosis and the pediatric surgeon: the impact of prenatal consultation on perinatal management. 
  • Prenatal diagnosis of orofacial clefts, National Birth Defects Prevention Study, 1998-2004. 
  • Prenatal diagnosis using fetal cells from the maternal circulation. 
  • Prenatal diagnosis: essentials for the pediatric surgeon. 
  • Prenatal mild ventriculomegaly predicts abnormal development of the neonatal brain. 
  • Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. 
  • Prevalence of Pediatric Surgical Conditions Across Somaliland. 
  • Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. 
  • Relation between ambient air quality and selected birth defects, seven county study, Texas, 1997-2000. 
  • Religiosity is an important part of coping with grief in pregnancy after a traumatic second trimester loss. 
  • Retroaortic left renal vein in testicular cancer patient: potential staging and treatment pitfall. 
  • Risk Factors for Birth Defects. 
  • Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study. 
  • Social and financial barriers may contribute to a "hidden mortality" in Uganda for children with congenital anomalies. 
  • Sonography of the fetal gastrointestinal tract: anatomic variants, diagnostic pitfalls, and abnormalities. 
  • Spiritual needs of couples facing pregnancy termination because of fetal anomalies. 
  • Synergistic embryotoxicity of polycyclic aromatic hydrocarbon aryl hydrocarbon receptor agonists with cytochrome P4501A inhibitors in Fundulus heteroclitus. 
  • Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects. 
  • The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2. 
  • The Risk of Congenital Anomalies by Fertility Treatment Modality. 
  • The Society for Maternal-Fetal Medicine (SMFM) Fetal Anomalies Consult Series. 
  • The case for careful examination of the placenta. Helpful information from the delivery room. 
  • The demands and limits of care--ethical reflections on the moral dilemma of neonatal intensive care. 
  • The embryologic development of the human vagina. 
  • The novel triad of dorsal agenesis of the pancreas with concurrent pancreatic ductal adenocarcinoma and nonalcoholic chronic calcific pancreatitis: a case series and review of the literature. 
  • The role of CARE (Comprehensive Autopsy Review and Evaluation) in a prenatal diagnosis program. 
  • The use of chromosomal microarray for prenatal diagnosis. 
  • Thrombospondin-1 is required for normal murine pulmonary homeostasis and its absence causes pneumonia. 
  • Unusual association of bilateral persistent stapedial arteries and microtia with bilateral ossicular anomalies resulting in conductive hearing loss. 
  • Zika Virus (ZIKV), Global Public Health, Disability, and Rehabilitation: Connecting the Dots…. 
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  Keywords of People

  • Bradford, William Dalton, Professor of Pathology, Pathology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Routh, Jonathan Charles, Paul H. Sherman, M.D. Distinguished Associate Professor of Surgery, Pediatrics