Results 91 to 100 of about 18,345 (192)

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source

A correlative study between white matter lesions of migraine and patent foramen ovale

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Migraine is a kind of common primary headache, which seriously damages human health and quality of life. Recent studies show there is a high incidence of white matter lesions (WML) in migraineurs, which is independent of other risk factors for ...
Qiang ZHANG, Guo-gang LUO
doaj  

Congenital heart disease in pregnancy and severe maternal morbidity: A distributed data network study

Pregnancy, Volume 2, Issue 5, September 2026.
Abstract Introduction Pregnant people with congenital heart disease (CHD) are a growing patient population in obstetrics, yet evidence on the risk for severe maternal morbidity (SMM) has largely been limited to studies that lack specificity for CHD. We conducted this study to demonstrate the utility of distributed data networks for obstetric research ...
Elizabeth B. Sherwin, Benjamin Martin, Xiao Xu, Anna Booman, Alyssa Howren, Kimberlee McKay, Sadaf Kazi, Sean O'Reilly, Katie S. Kolla, Khyzer Aziz, Katherine Bianco, Stephanie A. Leonard   +11 more
wiley   +1 more source

Giant thrombus entrapped by a patent foramen ovale in a patient with polycystic kidney disease

Clinical and Biomedical Research, 2017
Polycystic kidney disease (PKD) is the most common genetic cause of chronic kidney disease (CKD). The most common cause of death in patients with this condition is cardiovascular disease, mainly due to hypertension and its consequences.
Gustavo Neves de Araujo, Stéfani Mariani, Felipe Pereira Lima Marques, Lucas Simonetto Faganello, Luís Henrique Klafke, Douglas Dal Más Freitas, Solano Berger   +6 more
doaj   +2 more sources

Long-term follow up after transcatheter closure of atrial septal defect and patent foramen ovale in adults

Zdravniški Vestnik, 2014
Background: The aim of our study was to define long-term electrocardiographic and echocardiographic changes and complications after transcatheter closure of atrial septal defect and patent foramen ovale in adults.Methods: The clinical ...
Jure Dolenc, Andraž Cerar, Marta Cvijić, Katja Prokšelj, Mirta Koželj   +4 more
doaj  

Cinematic Rendering of a Fenestrated Patent Foramen Ovale Within a Left-Sided Atrial Septal Pouch. [PDF]

Methodist Debakey Cardiovasc J
Avakian A, Umair M.
europepmc   +1 more source

Zero-fluoroscopy, intracardiac echocardiography-only patent foramen ovale closure in early pregnancy: a case report. [PDF]

Eur Heart J Case Rep
Jo S, Kim TH, Lee YJ, Yun K, Kim JS.
europepmc   +1 more source

Grey and white matter alteration in patients with patent foramen ovale: A cross-sectional observational study using combined surface-based morphometry and voxel-based morphometry. [PDF]

Medicine (Baltimore)
Yang Y, Ye Y, Li Q, Zhang Z, Wang H.
europepmc   +1 more source

Quantitative Analysis of Pulmonary Right-to-Left Shunts and Patent Foramen Ovale via Agitated Saline Contrast Transesophageal Echocardiography: Associations With Migraine, Cryptogenic Stroke, and Transient Ischemic Attack. [PDF]

Echocardiography
Chen J, Wang L, He Y, Li Z, Huang S, Li H.   +5 more
europepmc   +1 more source

Platypnea-Orthodeoxia Syndrome Due to a Functional Patent Foramen Ovale: Aortic Dilatation and Possible Contribution of Obstructive Sleep Apnea. [PDF]

Open Respir Arch
Scarsi F, González V, Granados G, Martí S.   +3 more
europepmc   +1 more source