Results 121 to 130 of about 32,390 (304)

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

open access: yesClinical 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   +22 more
wiley   +1 more source

Pulmonary Vascular Endothelial Cells in Lung Diseases: Mechanisms, Therapeutic Strategies, and Future Directions

open access: yesCell Proliferation, EarlyView.
The pathogenic mechanisms of pulmonary vascular endothelial cells (VECs) in lung diseases and their multimodal therapeutic strategies. ABSTRACT Pulmonary vascular endothelial cells (VECs) are essential for the normal function of the lung, through maintaining vascular barrier integrity, regulating blood flow, and participating in inflammatory responses ...
Qianyue Liu   +5 more
wiley   +1 more source

Safety, Efficacy and Treatment Patterns of rIX‐FP in Previously Untreated Paediatric Haemophilia B Patients: A Retrospective Chart Review in Japan

open access: yesHaemophilia, EarlyView.
Abstract Background Limited real‐world data exist on recombinant fusion protein‐linking coagulation factor IX (FIX) with albumin (rIX‐FP) in paediatric previously untreated patients (PUPs) with haemophilia B, particularly in infants. Aims To evaluate the treatment patterns, safety and efficacy of rIX‐FP in paediatric PUPs in Japan.
Keiji Nogami   +3 more
wiley   +1 more source

Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

open access: yesCase Reports in Pediatrics, 2013
Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch ...
Masato Kimura   +4 more
doaj   +1 more source

Intracranial Aneurysms in Patients With Coarctation of the Aorta

open access: diamond, 2023
Sara Thorne   +1 more
openalex   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

open access: yesJournal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah   +8 more
wiley   +1 more source

The adult patient with native coarctation of the aorta: balloon angioplasty or primary stenting? [PDF]

open access: bronze, 2002
Carlos Zabal   +4 more
openalex   +1 more source

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