Results 101 to 110 of about 60,528 (234)

Oral manifestations of nine individuals with Williams syndrome. A case series

Special Care in Dentistry, Volume 44, Issue 2, Page 438-449, March/April 2024.
Abstract Aims Williams syndrome (WS) is a congenital developmental disorder characterized, mainly, by distinctive facial features, cardiovascular anomalies, growth delay and a typical neurobehavioral profile. The oral manifestations have not been sufficiently described and, therefore, the aim of the current study was to present the clinical ...
Konstantina Vavetsi, Olga Panagopoulou, Panagiotis Koromantzos, Ηelen Fryssira, Spyridon A. Bobetsis, Dimitris Emmanouil, Yiorgos A. Bobetsis   +6 more
wiley   +1 more source

Interventional cardiology : resolution of congenital heart diseases in small animals [PDF]

, 2017
PòsterFebre
Cañete Pizarro, Ángel, Universitat Autònoma de Barcelona. Facultat de Veterinària   +1 more
core  

Aortic Stenosis in Homozygous Familial Hypercholesterolemia

JACC: Advances
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extreme elevations in low-density lipoprotein cholesterol levels and premature cardiovascular disease.
Armen Erzingatzian, BSc, Zobaida Al-Baldawi, MD, MSc, Isabelle Ruel, PhD, Leslie Brown, MSc, Mark H. Sherman, MD, Nathalie Laflamme, MSc, Jean Bergeron, MD, MSc, Patrick Couture, MD, PhD, Martine Paquette, MSc, Alexis Baass, MD, MSc, Diane Brisson, PhD, Miriam Larouche, MSc, Daniel Gaudet, MD, PhD, Lubomira Cermakova, MSc, Darryl Wan, MD, Liam R. Brunham, MD, PhD, Gordon A. Francis, MD, G.B. John Mancini, MD, Brooke A. Kennedy, BSc, Robert A. Hegele, MD, Gary F. Lewis, MD, Brian W. McCrindle, MD, MPH, Thomas Ransom, MD, MSc, Ruth McPherson, MD, PhD, Nicolo Piazza, MD, PhD, Benoit de Varennes, MD, MSc, Jacques Genest, MD, Iulia Iatan, MD, PhD   +27 more
doaj   +1 more source

The 1(st) and the 2(nd) Italian Consensus Conferences on low-density lipoprotein-apheresis. A practical synopsis and update [PDF]

, 2016
The clinical indications and guidelines for low-density lipoprotein (LDL)-apheresis set by the 1(st) Italian Consensus Conference held in Ostuni in 1990 and completed in 1992, but never published, are reported schematically.
Stefanutti, Claudia
core   +1 more source

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

Molecular Syndromology, 2019
Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype.
L. Pons, P. Bouvagnet, M. Bakloul, S. Di Filippo, A. Buisson, N. Chatron, A. Labalme, O. Metton, J. Mitchell, F. Diguet, P. Rollat-Farnier, D. Sanlaville, C. Schluth-Bolard   +12 more
semanticscholar   +1 more source

Avoidance of malignant arrhythmia caused by displacement of the right coronary artery ostium in surgical correction of supravalvular aortic stenosis

Journal of International Medical Research, 2019
Objective This study was performed to identify the effects of different surgical approaches on the right coronary artery ostium in patients with congenital supravalvular aortic stenosis (SVAS) and to determine how to avoid surgically induced right ...
Bo Peng, Qiang Wang
semanticscholar   +1 more source

Supravalvular aortic membrane-like stenosis: A case report

, 2020
Supravalvular aortic stenosis is a type of congenital heart disease in which membrane-like stenosis rarely occurs. Herein, we present the case of a 52-year-old female patient who was admitted to the hospital because of palpitation.
Shasha Duan, Jie Zhao, Zhaochen Jin, YiLu Shi, Wu Shi Xiao, Min Zhao, Yaxi Wang, Xiaoshan Zhang   +7 more
semanticscholar   +1 more source

Supravalvular Aortic Stenosis Without Williams Syndrome

The Thoracic and Cardiovascular Surgeon, 1996
In this article, the case of a 30-years-old female patient with supravalvular aortic stenosis is reported. Her clinical picture was otherwise completely different from Williams syndrome. Since supravalvular aortic stenosis is rarely seen, its forms are discussed and it is concluded that supravalvular aortic stenosis can be present without Williams ...
Ozergin, U, Sunam, GS, Yeniterzi, M, Yuksek, T, Solak, T, Solak, H   +5 more
openaire   +3 more sources

Fetal trans-apical stent delivery into the pulmonary artery: prospects for prenatal heart-valve implantation [PDF]

, 2017
OBJECTIVE The purpose of this study was to assess the technical feasibility of a fetal trans-apical stent delivery into the pulmonary artery using a novel hybrid-intervention technique as a possible route for prenatal minimally invasive heart-valve ...
Behr, Luc, Brokopp, Chad, Emmert, Maximilian Y., Falk, Volkmar, Frauenfelder, Thomas, Hoerstrup, Simon P., Kretschmar, Oliver, Weber, Benedikt   +7 more
core  

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder [PDF]

, 2014
Williams-Beuren syndrome is a developmental multisystemic disorder caused by a recurrent 1.55-1.83 Mb heterozygous deletion on human chromosome band 7q11.23.
Ana J. Rodrigues, Ashe, Axelsson, Bayes, Blackwell, Broder, Campbell, Campuzano, Capitao, Capossela, Chiang, Cristina Borralleras, Del Campo, DeSilva, Dilts, Doyle, Emilie Velot, Enkhmandakh, Feng, Gagliardi, Galaburda, Goergen, Gundersen, Hammond, Hocking, Hoogenraad, Ignacio, Ignasi Sahún, Jackowski, Jarvinen-Pasley, Li, Li, Lucena, Luis A. Pérez-Jurado, Mara Dierssen, Maria Segura-Puimedon, Marler, Martens, María C. Valero, Mass, Meda, Mervis, Mervis, Metcalfe, Meyer-Lindenberg, Morris, Morris, Nuno Sousa, Olga Valverde, Pantoja, Pape, Peoples, Perez Jurado, Pierre Dubus, Pober, Pober, Power, Reiss, Reiss, Rogers, Rozen, Sakurai, Schmitt, Schneider, Schubert, Stromme, Stuss, Tassabehji, Todaro, Tomaiuolo, Valero, Victoria Campuzano, Wessel, Yann Herault, Yoshimura   +74 more
core   +1 more source