Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv +12 more
wiley +1 more source
High-output heart failure due to a giant left circumflex coronary aneurysm with a left atrial fistula and atrial septal defect: a case report [PDF]
Moses Lee +4 more
openalex +1 more source
Iraq Medical Journal, 2017 Objective To determine the patterns of congenital heart diseases in adults in Karbala province. Methods A total of 85 patients aged more than 16 years were examined at Al-Hussain Medical City and Al-Hindiya General Hospital from June 2006 to December ...
Ali R Jassim +2 more
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The FEBS Journal, EarlyView.Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola +11 more
wiley +1 more source
Residual shunts after tetralogy of Fallot repair: two case illustrations and echocardiographic insights. [PDF]
Eur Heart J Case RepShanmugam S.
europepmc +1 more source
A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot. [PDF]
Clin Case RepABSTRACT Neonatal 48,XXYY syndrome can present with both ambiguous genitalia and Tetralogy of Fallot, a striking and previously unreported association. This case broadens the phenotypic spectrum and underscores the importance of integrating genetic and cardiac evaluation in all neonates with disorders of sex development.
Gazzaz N.
europepmc +2 more sources
Da Vinci Robot-assisted Beating-Heart vs. Cardioplegic Arrest Atrial Septal Defect Repair: A Clinical Comparison of Feasibility and Outcomes [PDF]
Qingjiang Wang +6 more
openalex +1 more source
Generation of a Urine-Derived Ips Cell Line from a Patient with a Ventricular Septal Defect and Heart Failure and the Robust Differentiation of These Cells to Cardiomyocytes via Small Molecules [PDF]
, 2018 Yinyin Cao +11 more
openalex +1 more source
PROBLEMS OF SELECTING THERAPY FOR HEART FAILURE IN A NEWBORN
Мать и дитя в КузбассеCongenital heart defects are still a serious medical and social problem. The incidence of congenital heart defects varies widely and ranges from 2.4% to 14.15%.
Наталья Николаевна Лылова +7 more
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