Results 91 to 100 of about 1,093,324 (351)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Prediction of Turbulent Shear Stresses through Dysfunctional Bileaflet Mechanical Heart Valves using Computational Fluid Dynamics

, 2018
There are more than 300,000 heart valves implanted annually worldwide with about 50% of them being mechanical valves. The heart valve replacement is often a common treatment for severe valvular disease.
Gamage, Peshala T., Khalili, Fardin, Mansy, Hansen   +2 more
core   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Arrhythmic risk in elderly patients candidates to transcatheter aortic valve replacement. predicative role of repolarization temporal dispersion [PDF]

, 2019
Degenerative aortic valve stenosis (AS) is associated to ventricular arrhythmias and sudden cardiac death, as well as mental stress in specific patients. In such a context, substrate, autonomic imbalance as well as repolarization dispersion abnormalities ...
Crapanzano, Davide, DI IORIO, Claudia, Fabietti, Marcella, Magri', Damiano, Mariani, MARCO VALERIO, Mastropietri, Fabiola, Moscucci, Federica, Parrotta, Ilaria, Piccirillo, Gianfranco, Sabatino, Teresa, Salvi, Nicolo', Vespignani, Giulia   +11 more
core   +1 more source

Aortic Valve Sparing in Different Aortic Valve and Aortic Root Conditions

Journal of the American College of Cardiology, 2016
The development of aortic valve-sparing operations (reimplantation of the aortic valve and remodeling of the aortic root) expanded the surgical armamentarium for treating patients with aortic root dilation caused by a variety of disorders. Young adults with aortic root aneurysms associated with genetic syndromes are ideal candidates for reimplantation ...
openaire   +3 more sources

Bicuspid Aortic Valve Anatomy and Relationship With Devices: The BAVARD Multicenter Registry A European Picture of Contemporary Multidetector Computed Tomography Sizing for Bicuspid Valves

Circulation. Cardiovascular Interventions, 2019
Background: Sizing for transcatheter aortic valve implantation in bicuspid aortic valves (BAV) remains controversial. Methods and Results: The aim of the BAVARD (Bicuspid Aortic Valve Anatomy and Relationship With Devices) retrospective registry is to ...
D. Tchétché, Chiara De Biase, L. van Gils, Radosław Parma, A. Ochała, T. Lefévre, T. Hovasse, O. de Backer, L. Søndergaard, S. Bleiziffer, R. Lange, R. Kornowski, U. Landes, B. Nørgaard, L. Biasco, Raphael Philippart, Javier Molina-Martín de Nicolás, D. Mylotte, Caroline Lemee, N. Dumonteil, N. Van Mieghem   +20 more
semanticscholar   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Endogenous reference genes for gene expression studies on bicuspid aortic valve associated aortopathy in humans

, 2016
Bicuspid aortic valve (BAV) disease is the most common congenital cardiac abnormality and predisposes patients to life-threatening aortic complications including aortic aneurysm.
Cagampang, Felino, Harrison, Oliver, Moorjani, Narain, Ohri, Sunil, Torrens, Christopher   +4 more
core   +3 more sources

Variability of repairable bicuspid aortic valve phenotypes: towards an anatomical and repair-oriented classification.

European Journal of Cardio-Thoracic Surgery, 2019
OBJECTIVES: The bicuspid aortic valve (BAV) exists in a wide variety of valve phenotypes. The aim of this study was to assess the anatomical characteristics of the different phenotypes and develop a classification system to aid surgical repair. METHODS:
L. de Kerchove, S. Mastrobuoni, L. Froede, S. Tamer, M. Boodhwani, M. V. Van Dyck, G. El Khoury, H. Schäfers   +7 more
semanticscholar   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source