The etiology of VACTERL association: Current knowledge and hypotheses
BD Solomon - American Journal of Medical Genetics Part C …, 2018 - Wiley Online Library
VACTERL association is a condition involving the presence of multiple congenital
anomalies. The condition was first described more than four decades ago, and is not …
anomalies. The condition was first described more than four decades ago, and is not …
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies
E Brosens, M Ploeg, Y van Bever, AE Koopmans… - European journal of …, 2014 - Elsevier
Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with
or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and …
or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and …
[HTML][HTML] Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders
Birth defects occur in up to 3% of all live births and are the leading cause of infant death.
Here we present five individuals from four unrelated families, individuals who share similar …
Here we present five individuals from four unrelated families, individuals who share similar …
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
JO Szot, A Slavotinek, K Chong, O Brandau… - Human …, 2021 - Wiley Online Library
Nicotinamide adenine dinucleotide (NAD) is an essential coenzyme involved in over 400
cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l …
cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l …
Imaging musculoskeletal soft tissue infections
S Altmayer, N Verma, EA Dicks, A Oliveira - Seminars in Ultrasound, CT …, 2020 - Elsevier
Musculoskeletal soft tissue infections are not uncommonly encountered in both the clinic
and Emergency Department setting. The clinical diagnosis is not always evident as these …
and Emergency Department setting. The clinical diagnosis is not always evident as these …
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association
AC Hilger, J Halbritter, T Pennimpede… - Human …, 2015 - Wiley Online Library
The VATER/VACTERL association describes the combination of congenital anomalies
including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal …
including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal …
[HTML][HTML] Anatomy and embryology of tracheo-esophageal fistula
N Durkin, P De Coppi - Seminars in Pediatric Surgery, 2022 - Elsevier
Anomalies in tracheo-esophageal development result in a spectrum of congenital
malformations ranging from, most commonly, esophageal atresia with or without trachea …
malformations ranging from, most commonly, esophageal atresia with or without trachea …
Prenatal exposure to environmental factors and congenital limb defects
PG Alexander, KL Clark… - Birth Defects Research Part …, 2016 - Wiley Online Library
Limb congenital defects afflict approximately 0.6: 1000 live births. In addition to genetic
factors, prenatal exposure to drugs and environmental toxicants, represents a major …
factors, prenatal exposure to drugs and environmental toxicants, represents a major …
[HTML][HTML] Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies
Background Congenital malformations are described in about 3% of live births and 20% of
stillbirths in the industrialized countries. The prevalence of congenital anomalies in …
stillbirths in the industrialized countries. The prevalence of congenital anomalies in …
[HTML][HTML] Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky …
T Bjørsum-Meyer, M Herlin, N Qvist… - Journal of medical case …, 2016 - Springer
Background The vertebral defect, anal atresia, cardiac defect, tracheoesophageal
fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky …
fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky …