Results 231 to 240 of about 9,580,811 (383)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Evaluation of posterior aortic wall echogram in diagnosis of mitral valve disease. [PDF]

, 1979
R J Hall, Sharon E. Clarke, D Brown
openalex   +1 more source

A Fluid-Structure Interaction Model of the Zebrafish Aortic Valve [PDF]

arXiv
The zebrafish is a valuable model organism for studying cardiac development and diseases due to its many shared aspects of genetics and anatomy with humans and ease of experimental manipulations. Computational fluid-structure interaction (FSI) simulations are an efficient and highly controllable means to study the function of cardiac valves in ...
arxiv  

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Registry of Aortic Diseases to Model Adverse Events and Progression (ROADMAP) in Uncomplicated Type B Aortic Dissection: Study Design and Rationale. [PDF]

Radiol Cardiothorac Imaging, 2022
Mastrodicasa D, Willemink MJ, Turner VL, Hinostroza V, Codari M, Hanneman K, Ouzounian M, Ocazionez Trujillo D, Afifi RO, Hedgire S, Burris NS, Yang B, Lacomis JM, Gleason TG, Pacini D, Folesani G, Lovato L, Hinzpeter R, Alkadhi H, Stillman AE, Chen EP, van Kuijk SMJ, Schurink GWH, Sailer AM, Bäumler K, Miller DC, Fischbein MP, Fleischmann D.   +27 more
europepmc   +1 more source

A new method of autologous fascia lata replacement for aortic valvular disease [PDF]

, 1971
E Hauf, C Chalant
openalex   +1 more source

2024 ESC Guidelines for the management of peripheral arterial and aortic diseases.

European Heart Journal
L. Mazzolai, G. Teixidó-Turà, Stefano Lanzi, V. Boc, Eduardo Bossone, Marianne Brodmann, A. Bura-Rivière, J. De Backer, Sebastian Déglise, A. Della Corte, C. Heiss, M. Kałużna-Oleksy, D. Kurpas, C. McEniery, Tristan Mirault, Agnes A Pasquet, Alex Pitcher, Hannah A I Schaubroeck, Oliver Schlager, P. Sirnes, Muriel G Sprynger, E. Stabile, Françoise Steinbach, Matthias Thielmann, R. V. van Kimmenade, M. Venermo, J. Rodríguez-Palomares   +26 more
semanticscholar   +1 more source

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

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

70th International Congress of the European Society for Cardiovascular and Endovascular Surgery and 7th International Meeting on Aortic Diseases. [PDF]

Aorta (Stamford), 2022
Elefteriades JA, Ziganshin BA.
europepmc   +1 more source