Results 41 to 50 of about 50,473 (244)

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

The incidence and follow-up of isolated ventricular septal defect in newborns by echocardiographic screening

The Turkish Journal of Pediatrics, 2008
The aim of this study was to evaluate the incidence and spontaneous closure rate of ventricular septal defects in a randomly selected newborn population, using color flow Doppler echocardiographic screening.
Filiz Ekici, Ercan Tutar, Semra Atalay, Saadet Arsan, Nazire Ozçelik   +4 more
doaj  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Ventricular Septal Aneurysm Mimicking Right Ventricular Outflow Tract Mass in a Patient With Ventricular Septal Defect

JACC: Case Reports, 2020
A 50-year-old man presented with an episode of chest pain. Cardiac magnetic resonance revealed the presence of a large ventricular septal aneurysm partially closing a perimembranous ventricular septal defect, prolapsing into the right ventricular outflow
Nikhil A. Mehta, MBBS, Syed Rafay Ali Sabzwari, MBBS, Sara Godil, MD, Ghulam Akbar, MD, Raman Dusaj, MD, Neeraj Shah, MBBS   +5 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Postinfarction Ventricular Septal Defect [PDF]

Circulation, 1965
A series of four patients who died following rupture of the ventricular septum due to myocardial infarction has been reported. One of these died of hemorrhage due to a defective clotting mechanism 8 hours after successful surgical repair. The 13 cases of surgical repair of postinfarction ventricular septal defect reported by other authors are
P M, BARNARD, J H, KENNEDY
openaire   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Cardiac morphological and morphometric analysis of Ardea alba

The Anatomical Record, EarlyView.
Abstract Ardea alba (Linnaeus, 1758) is a widely distributed heron species whose cardiovascular morphology remains poorly described. This study aimed to characterize the cardiac morphology and morphometry of adult A. alba. Ten specimens were analyzed using radiographic, morphometric, histological, scanning electron microscopy, and three‐dimensional ...
Julia Vaz Feio, Max Alex Santos Ferreira, Elane Guerreiro Giese, Érika Branco, Antônio Basílio Guerreiro Junior, Ana Rita de Lima   +5 more
wiley   +1 more source

SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development

The Anatomical Record, EarlyView.
Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli, Andrew B. Harvey, Inara Devji, Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Andy Wessels   +6 more
wiley   +1 more source