Results 171 to 180 of about 89,356 (321)

A study of clinical implementation of ventricular septal defect closure using three transthoracic approaches.

, 2021
Longren Cai, Ganhua Zeng, Yan Li, Xinghua Peng   +3 more
openalex   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Rastelli procedure in transposition of the great arteries associated with ventricular septal defect and pulmonary stenosis: A report of 3 consecutive cases in Cho Ray hospital

, 2022
Le Thanh Khanh Van, Le Quoc Dat, Hoang Thi Bich Ngoc, Doan Van Phung, Bui Quoc Thang   +4 more
openalex   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Pulmonary atresia with ventricular septal defect and situs inversus totalis

, 2011
Henry Knipe
openalex   +1 more source

Ventricular Septal Defect with Patent Ductus Arteriosus [PDF]

, 1960
Arthur A. Sasahara, Alexander S. Nadas, Abraham M. Rudolph, M. H. Wittenborg, Robert E. Gross   +4 more
openalex   +1 more source

Simultaneous Repair of Iatrogenic Left Atrial and Aortic Perforations Using Ductus Arteriosus Occluders: A Case Report

Catheterization and Cardiovascular Interventions, Volume 107, Issue 2, Page 524-526, February 1, 2026.
ABSTRACT Iatrogenic perforation of the left atrium and aorta during transseptal puncture (TSP) is a rare but potentially life‐threatening complication. This report presents the case of an elderly male patient with a 20‐year history of atrial fibrillation who experienced this complication during a scheduled left atrial appendage closure procedure ...
Zhihao Wu, Shumin Ouyang, Minqi Liao, Lihua Chen, Haixian Yin, Jianping Zhou, Suxia Guo   +6 more
wiley   +1 more source

Impaired Right, Left, or Biventricular Function and Resting Oxygen Saturation Are Associated With Mortality in Eisenmenger Syndrome: A Clinical and Cardiovascular Magnetic Resonance Study. [PDF]

, 2015
Babu-Narayan, SV, Broberg, CS, Diller, GP, Dimopoulos, K, Gatzoulis, MA, Jensen, AS, Li, W, Pennell, DJ, Rydman, R, Wort, SJ   +9 more
core   +1 more source

A rare combination: Single coronary artery originating from the left sinus of valsalva coexisting with perimembranous ventricular septal defect [PDF]

, 2012
Aytun Çanğa, Sinan Altan Kocaman, Gökhan Keskin, Mustafa Çetın, Murtaza Emre Durakoğlugil, Şahin Bozok   +5 more
openalex   +1 more source

Successful Catheter‐Directed Thrombolysis for a Patient With Intermediate‐High‐Risk Pulmonary Embolism: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Acute pulmonary embolism (PE) is a prevalent cardiovascular condition with significant mortality and morbidity. Treatment strategies vary according to risk stratification. While anticoagulation is sufficient for low‐risk patients, high‐risk cases often necessitate systemic thrombolysis (ST) or surgical embolectomy.
Mohammadreza Motazedian, Ahoura Salehi Nowbandegani, Zahra Mohammadi, Sina Bazmi   +3 more
wiley   +1 more source