Results 41 to 50 of about 359 (125)

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

open access: yesJournal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang   +7 more
wiley   +1 more source

Twinning and anencephaly

open access: yesAnnals of Human Biology, 1976
The literature on anencephaly in twins ascertained in series has been reviewed and some hitherto unpublished data presented. 1. Anencephaly rates in opposite-sexed twin pairs seem not to differ appreciably from those in related singleton births. 2.
openaire   +2 more sources

Maternal Stressors and Social Support in Early Pregnancy and the Risk of Stillbirth Among Fetuses With Birth Defects: Exploring Effect Modification by Race/Ethnicity

open access: yesBirth Defects Research, Volume 118, Issue 8, August 2026.
ABSTRACT Background Prenatal stress and social support are associated with adverse birth outcomes, including stillbirth, in the general population. Their relationship to stillbirth among fetuses with birth defects is unclear. Using data from the National Birth Defects Prevention Study and the Birth Defects Study To Evaluate Pregnancy exposureS, we ...
Meredith M. Howley   +11 more
wiley   +1 more source

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity

open access: yesJournal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla   +3 more
wiley   +1 more source

Congenital Neurologic Malformations

open access: yesPediatric Neurology Briefs, 1990
A 17-year survey of major congenital neurologic malformations among infants born in U.S. Army Hospitals worldwide from January 1, 1971 through December 31, 1987 is presented from the Neonatology Services, Walter Reed Army Medical Center, Washington, DC ...
J Gordon Millichap
doaj   +1 more source

Renal Phosphate Reabsorption in Humans Depends on at Least Three Distinct Transporters Unlike in Mice

open access: yesActa Physiologica, Volume 242, Issue 8, August 2026.
ABSTRACT Aim Kidney excretion of phosphate is the gatekeeper of systemic phosphate homeostasis as evident from inborn and acquired diseases. Renal phosphate transporters are a promising target for phosphate‐lowering drugs, but molecular details of human kidney phosphate handling are largely unknown.
Ashley L. Fernandes   +10 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

open access: yesAnatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci   +4 more
wiley   +1 more source

Iniencephaly: A rare anomaly

open access: yesNational Journal of Clinical Anatomy, 2019
Following case report is an attempt to ascertain that the fetus obtained and evaluated presents with iniencephaly, which is one of the rare variants of neural tube defects. Most of the cases of iniencephaly are reported as isolated incidences.
Shantanu B Chavan
doaj   +1 more source

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