Results 231 to 240 of about 285,959 (296)

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg   +9 more
wiley   +1 more source

The cone repair after Fontan procedure: Conversion from completed single-ventricle pathway after the Starnes procedure to biventricular physiology. [PDF]

open access: yesJTCVS Tech
Da Silva JP   +7 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Extracorporeal cardiopulmonary resuscitation for pediatric in-hospital cardiac arrest in single ventricle patients: a systematic review and meta-analysis. [PDF]

open access: yesResusc Plus
Raymond TT   +8 more
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa   +7 more
wiley   +1 more source

Predictors of spontaneous pregnancy loss in single ventricle physiology. [PDF]

open access: yesOpen Heart
Wazni Y   +16 more
europepmc   +1 more source

Pressure-Wire Guided Hybrid Branch Pulmonary Artery Band Placement for Palliation of Single Ventricle and Critical Congenital Cardiac Lesions. [PDF]

open access: yesCatheter Cardiovasc Interv
Pacella J   +8 more
europepmc   +1 more source

Eight-Year Outcomes of Cardiosphere-Derived Cells in Single Ventricle Congenital Heart Disease. [PDF]

open access: yesJ Am Heart Assoc
Hirai K   +14 more
europepmc   +1 more source

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