Results 171 to 180 of about 89,308 (311)

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

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Resumption of Warfarin After Intracranial Hemorrhage in Patients With Mechanical Heart Valves: A Systematic Review and Meta-Analysis. [PDF]

J Am Heart Assoc
Sakusic A, Ghozy S, Verma Y, Elgazzar T, Rabinstein AA, Braksick SA, Wijdicks EFM, Fugate JE, Hawkes MA.   +8 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Relationship between fibre orientation and tensile strength of natural collagen membranes for heart valve leaflets

, 2011
Heart valve prostheses are used to replace native heart valves which that are damaged because of congenital diseases or due to ageing. Biological prostheses made of bovine pericardium are similar to native valves and do not require any anticoagulation ...
Rojo Pérez, Francisco Javier, Alvarez, L., Garcia Paez, J.M., Guinea Tortuero, Gustavo V., Bourges, Jean Yves, Atienza Riera, José Miguel   +5 more
core  

IS-Pro-based pathogen detection in explanted heart valves of suspected endocarditis patients. [PDF]

Microbiol Spectr
Bartsch P, Krebs O, Augustin C, Aepfelbacher M, Rohde H, Berinson B.   +5 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Pathophysiology, Evaluation and Management of Valvular Heart Diseases, Vol. 2 : Developed from "Valves in the Heart of the Big Apple", New York, N.Y., May 2002 /

, 2004
Written by faculty members of the international symposium ‘Valves in the Heart of the Big Apple: Evaluation and Management of Valvular Heart Diseases’, this book is intended to complement and supplement the first volume, published in 2002.
Borer, J.S.
core  

Bioengineered heart valves for personalized therapy: advances in manufacturing and clinical challenges. [PDF]

Front Bioeng Biotechnol
Saeed M, Khan KA.
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source