Results 41 to 50 of about 526,418 (247)
Advanced Science, EarlyView.Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang +9 more
wiley +1 more source
Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012
Health Promotion and Chronic Disease Prevention in Canada, 2015 Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those
S. Liu +6 more
doaj +1 more source
Proximal femoral focal deficiency : a case report [PDF]
, 2008 Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Ellul, Marthese +3 more
core
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Intrathoracic kidney with a right-sided Bochdalek hernia: a case report
Urology Research and Practice, 2019 An intrathoracic ectopic kidney as a result of a congenital diaphragmatic hernia is a rare congenital anomaly. This anomaly is usually asymptomatic and discovered incidentally on routine chest radiography. We report the case of a 16-year-old girl who had
Ersagun Karagüzel +5 more
doaj +1 more source
Relationship between birth weight to placental weight ratio and major congenital anomalies in Japan. [PDF]
PLoS ONE, 2018 Recent studies have indicated that birth weight to placental weight (BW/PW) ratio is related to perinatal outcomes, but the effect of congenital abnormalities on BW/PW ratio remains unclear. We performed this study to elucidate correlations between BW/PW
Ryuichi Takemoto, Ai Anami, Hiroshi Koga
doaj +1 more source
Heart Views, 2021 Interruption of the inferior vena cava with azygos continuation is a rare congenital anomaly. This anomaly becomes clinically important during cardiac interventions.
Saurabhi Das +3 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Treatment for congenital toxoplasmosis: finding out what works [PDF]
, 2009 Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R, Ruth Gilbert, Gilbert, Ruth
core +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source