Results 171 to 180 of about 65,471 (356)

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

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, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Echocardiographic findings in newborns and postneonatal infants undergoing preoperative evaluation for surgically correctable non-cardiac congenital malformations

Nigerian Journal of Paediatrics
Background: Congenital cardiac malformations could co-exist with surgically correctable non-cardiac congenital structural abnormalities. The occurrence of the two conditions portends increased anaesthetic risk and perioperative complications.
Onalo R, Osagie OO
doaj  

A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot. [PDF]

Clin Case Rep
ABSTRACT 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

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

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, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +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, Mariam Thomas, Golsa Joodi, Anthony Koppula, Jonathan Soverow   +4 more
openalex   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

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, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source

Diagnosis of major cardiac defects through routine early pregnancy ultrasound examination. [PDF]

Arch Gynecol Obstet
Ma J, He Y, Lei Y, Yao M, Wei W.
europepmc   +1 more source

Da Vinci Robot-assisted Beating-Heart vs. Cardioplegic Arrest Atrial Septal Defect Repair: A Clinical Comparison of Feasibility and Outcomes [PDF]

Qingjiang Wang, Rui Dai, Wei Wang, Haoyan Li, Xun Chi, Zhijun Sun, Sumin Yang   +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, Jin Xu, Junxiang Wen, Xiaojing Ma, Fang Liu, Yang Li, Wei‐Cheng Chen, Liqun Sun, Yao Wu, Shuolin Li, Jian Li, Guoying Huang   +11 more
openalex   +1 more source