ReviewSeminars in fetal & neonatal medicine2014
Genetic causes of congenital diaphragmatic hernia.
Review in Seminars in fetal & neonatal medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00950118 (Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science), which is not on this map. Cited by 47 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Who cites it
47 citing papers in PubMed.
- Caught in a web: congenital anterior and posterior oral synechiae with concurrent diaphragmatic hernia and atypical cleft palate.Journal of surgical case reports · 2026Article
- Congenital heart disease and congenital diaphragmatic hernia: the role of intracardiac shunts.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Prenatal diagnosis of congenital diaphragmatic hernia with mosaicism of chromosomes 17q and 18q in Iran: a case report.Journal of medical case reports · 2026Article
- Profiling circular RNAs in amniotic fluid and fetal lungs from congenital diaphragmatic hernia cases: insights into potential prognostic and diagnostic applications.Pediatric surgery international · 2026Article
- Usefulness of postmortem computed tomography when neonatal death occurred after fetoscopic endotracheal occlusion- case report.Forensic science, medicine, and pathology · 2025Article
- Isolated congenital diaphragmatic hernia and three-year neurodevelopmental outcomes.Pediatric research · 2025Article
- Review
- Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.Birth defects research · 2025Article
- Assessment of Physical Performance in Children After Surgery for Congenital Diaphragmatic Hernia.Journal of clinical medicine · 2024Article
- Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.Pediatric surgery international · 2024Article
- Accuracy of Estimated Fetal Weight Assessment in Fetuses with Congenital Diaphragmatic Hernia-Is the Hadlock Formula a Reliable Tool?Journal of clinical medicine · 2024Article
- Review of the Evaluation of Pulmonary Hypoplasia as an Important Determinant of Clinical Outcomes in Infants with Congenital Diaphragmatic Hernia.Medical science monitor : international medical journal of experimental and clinical research · 2024Review
- Article
- Congenital hiatal hernia with vermis hypoplasia, dysmorphic features and negative genetic study: A case report.SAGE open medical case reports · 2024Article
- Rare Diaphragmatic Hernias in Adults-Experience of a Tertiary Center in Esophageal Surgery and Narrative Review of the Literature.Diagnostics (Basel, Switzerland) · 2023Review
- Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes.The Journal of pediatrics · 2023Article
- Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report.Journal of medical case reports · 2023Article
- Connecting clinical, environmental, and genetic factors point to an essential role for vitamin A signaling in the pathogenesis of congenital diaphragmatic hernia.American journal of physiology. Lung cellular and molecular physiology · 2023Review
- Bilateral incarcerated Morgagni hernia with bowel obstruction: A case report.SAGE open medical case reports · 2023Article
- 5p deletion with congenital diaphragmatic hernia: a case report.Journal of medical case reports · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.