Results 191 to 200 of about 87,801 (334)

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

Tricuspid valve dysplasia in dogs [PDF]

open access: yes, 2018
A general overview of tricuspid valve dysplasia in dogs is presented in this review. This congenital disease has been described in numerous large dog breeds but especially the Labrador retriever is predisposed.
Bavegems, Valérie   +5 more
core   +1 more source

Clinical profile, short and long‐term outcomes of non‐ischaemic cardiogenic shock: A FRENSHOCK sub‐analysis

open access: yesESC Heart Failure, Volume 12, Issue 3, Page 2335-2346, June 2025.
Abstract Aims Although predominant in routine practice, non‐ischaemic cardiogenic shock (NICS) remains underrepresented in past studies, mainly focused on ischaemic cardiogenic shock (CS). This study aims to describe the current NICS picture and define its independent correlates of short‐ and long‐term outcomes.
Miloud Cherbi   +20 more
wiley   +1 more source

A Case Series of Pregnant Women With Mitral Stenosis. [PDF]

open access: yesJACC Case Rep, 2023
Hernández GV   +8 more
europepmc   +1 more source

SURGICAL OPERATION FOR MITRAL STENOSIS. [PDF]

open access: green, 1902
Lauder Brunton   +3 more
openalex   +1 more source

Trametinib alters contractility of paediatric Noonan syndrome‐associated hypertrophic myocardial tissue slices

open access: yesESC Heart Failure, Volume 12, Issue 3, Page 2321-2334, June 2025.
Abstract Aims No curative treatment is available for RASopathy‐associated childhood‐onset hypertrophic cardiomyopathy (RAS‐CM). Preclinical data and individual reports suggest a beneficial effect of small molecules targeting the RAS–mitogen‐activated protein (MAP) kinase (MAPK) pathway in severely affected RAS‐CM patients.
Jules Hamers   +11 more
wiley   +1 more source

Unsupported valvuloplasty in children with congenital mitral valve anomalies. Late clinical results

open access: yesArquivos Brasileiros de Cardiologia, 2001
OBJECTIVE: To analyze late clinical evolution after surgical treatment of children, with reparative and reconstructive techniques without annular support. METHODS: We evaluated 21 patients operated upon between 1975 and 1998.
Lorier Gabriel   +10 more
doaj  

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