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Showing 1-20 of 1,126 results
  1. Epigenetics of pregnancy: looking beyond the DNA code

    Epigenetics is the branch of genetics that studies the different mechanisms that influence gene expression without direct modification of the DNA...

    Daniela Zuccarello, Ugo Sorrentino, ... Matteo Cassina in Journal of Assisted Reproduction and Genetics
    Article Open access 17 March 2022
  2. Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1

    Purpose of Review

    Congenital heart disease (CHD) is the most frequently occurring birth defect. Majority of the earlier reviews focussed on the...

    Jyoti Maddhesiya, Bhagyalaxmi Mohapatra in Current Cardiology Reports
    Article 28 March 2024
  3. Congenital anomalies associated with oil and gas development and resource extraction: a population-based retrospective cohort study in Texas

    Background

    Oil and gas extraction-related activities produce air and water pollution that contains known and suspected teratogens. To date, health...

    Mary D. Willis, Susan E. Carozza, Perry Hystad in Journal of Exposure Science & Environmental Epidemiology
    Article 02 December 2022
  4. Risks of obstructive genitourinary birth defects in relation to trihalomethane and haloacetic acid exposures: expanding disinfection byproduct mixtures analyses using relative potency factors

    Background

    Some disinfection byproducts (DBPs) are teratogens based on toxicological evidence. Conventional use of predominant DBPs as proxies for...

    John A. Kaufman, J. Michael Wright, ... Michael G. Narotsky in Journal of Exposure Science & Environmental Epidemiology
    Article 12 September 2023
  5. Sirenomelia: A Tale of Two Mermaids

    Madhura D. Mandlik, Kimaya A. Mali, ... Niranjan M. Mayadeo in The Journal of Obstetrics and Gynecology of India
    Article 04 November 2023
  6. Signal Detection in EUROmediCAT: Identification and Evaluation of Medication–Congenital Anomaly Associations and Use of VigiBase as a Complementary Source of Reference

    Introduction

    Knowledge on the safety of medication use during pregnancy is often sparse. Pregnant women are generally excluded from clinical trials,...

    Alana Cavadino, Lovisa Sandberg, ... Joan K Morris in Drug Safety
    Article 09 May 2021
  7. The dimethadione-exposed rat fetus: an animal model for the prenatal ultrasound characterization of ventricular septal defect

    Background

    Ventricular septal defect (VSD) is the most prevalent congenital heart disease (CHD) and is easily misdiagnosed or missed. An appropriate...

    Yiru Yang, GuoRong Lyu, ... Shangqing Li in BMC Cardiovascular Disorders
    Article Open access 09 September 2023
  8. Medication effects on developmental sterol biosynthesis

    Cholesterol is essential for normal brain function and development. Genetic disruptions of sterol biosynthesis result in intellectual and...

    Zeljka Korade, Marija Heffer, Károly Mirnics in Molecular Psychiatry
    Article 05 April 2021
  9. Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

    Background

    Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this...

    Yuki Masuda, Yoko Nagayasu, ... Masahide Ohmichi in Journal of Medical Case Reports
    Article Open access 29 September 2023
  10. A pregnant lady with compound bowel obstruction managed with thoracic epidural as sole anesthesia in a resource-restricted setting: a case report

    Background

    Preserving the mother’s safety, sustaining the pregnancy state, and achieving the optimal fetal outcome are the major priorities when...

    Mesay Milkias Wonte, Abere Tilahun Bantie, Muhiddin Tadesse in Journal of Medical Case Reports
    Article Open access 05 June 2023
  11. Seasonal trend in the occurrence of myelomeningocele in nigeria: a hypothesis of climate-induced oxidative stress

    Purpose

    Myelomeningocele is the most severe birth defect compatible with long-term survival. It accounts for 5.7% of neurological surgeries in...

    Samuel E. Okpara, Izuchukwu C. Iloabachie, ... Enoch O. Uche in Child's Nervous System
    Article 10 November 2023
  12. Toxicology knowledge graph for structural birth defects

    Background

    Birth defects are functional and structural abnormalities that impact about 1 in 33 births in the United States. They have been attributed...

    John Erol Evangelista, Daniel J. B. Clarke, ... Avi Ma’ayan in Communications Medicine
    Article Open access 17 July 2023
  13. Brief title of the study case report: a case of type II sacral agenesis with no neurogenic dysfunction

    Background

    Sacral agenesis is a rare neural tube defect characterized by abnormal development of the caudal aspect of the vertebral column and the...

    Zuhera Khan, Munazza Saleem in Journal of Rare Diseases
    Article Open access 01 May 2024
  14. Prenatally Diagnosed Interventricular Septal Aneurysm with Associated Ventricular Dysfunction

    Congenital interventricular septal aneurysms (IVSA) of the muscular septum are rare and can be associated with other familial abnormalities of the...

    Julia E. Behrend, Amy S. Lay, ... Sandhya R. Ramlogan in Pediatric Cardiology
    Article 20 September 2023
  15. A rare case of the scaphocephalic skull of an adult male

    Background

    Scaphocephaly is a craniofacial anomaly where the skull is disproportionately long and narrow. Premature closure of the sagittal suture is...

    Shahriar Ahmadpour, Khadijeh Foghi in Egyptian Journal of Forensic Sciences
    Article Open access 13 October 2022
  16. Environmental causes of birth defects: challenges and opportunities

    Birgit Claus Henn, Martha M. Werler in Pediatric Research
    Article 23 January 2024
  17. Pubic Accessory Scrotum: a Case Report of a Rare Position

    Scrotum shows multiple congenital anomalies which could be explained by embryological abnormalities in migration of labioscrotal swelling. Our case...

    Mohamed Ahmed Elghazeery, Ashraf Saad Mohamed Soliman in Indian Journal of Surgery
    Article Open access 10 January 2023
  18. Medication history-wide association studies for pharmacovigilance of pregnant patients

    Background

    Systematic exclusion of pregnant people from interventional clinical trials has created a public health emergency for millions of patients...

    Anup P. Challa, **nnan Niu, ... David M. Aronoff in Communications Medicine
    Article Open access 16 September 2022
  19. Prenatal features of aneurysm of the posterior cerebral artery: a case report

    Background

    Fetal cerebral aneurysm other than aneurysm of vein of Galen aneurysmal malformation (VGAM) is extremely rare. This report describes...

    Pakorn Chaksuwat, Phudit Jatavan, ... Theera Tongsong in BMC Pregnancy and Childbirth
    Article Open access 17 October 2023
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