Results 31 to 40 of about 35,494 (256)

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Global Medical Genetics, 2020
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan   +5 more
doaj   +1 more source

Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene [PDF]

, 2018
Background: Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease.
Aalberts, Alpendurada, Audenaert, Backer, Campens, Chen, Cook, Gott, Hoffmann, Kesler, Kiotsekoglou, Kiotsekoglou, Knosalla, Laar, Linde, Loeper, Murdoch, Pyeritz, Regalado, Rouf, Rybczynski, Schaeffer, Tae, Yetman   +23 more
core   +2 more sources

Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report

Clinical Case Reports, 2017
Key Clinical Message We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father.
Yasmin Florence Khodeja Islam, Charles A. Williams, Jennifer Jane Schoch, Israel David Andrews   +3 more
doaj   +1 more source

Proteomic analysis of the bovine and human ciliary zonule [PDF]

, 2016
PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven, David, Larry L, De Maria, Alicia, Wilmarth, Phillip A   +3 more
core   +2 more sources

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo, Meinen, Sarina, Ruegg, Markus A.   +2 more
core   +1 more source

Online Personal Training in Patients With Marfan Syndrome: A Randomized Controlled Study of Its Impact on Quality of Life and Physical Capacity

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population.
Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau, Damien Vitiello   +4 more
doaj   +1 more source

Facial and Ocular Features of Marfan Syndrome

Diseases, 2014
Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and ...
Juan C. Leoni, Juan M. Bowen, Heidi M. Connolly   +2 more
doaj   +1 more source

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

Case Reports in Genetics
Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro   +7 more
doaj   +1 more source

A 3D Geometric Morphometric Analysis of the Palatal Morphology in Marfan’s Syndrome: A Preliminary Study [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Marfan’s Syndrome (MS) is a multisystem disorder of the connective tissue. A number of oral manifestations and craniofacial characteristics show a strong correlation with MS.
Giuseppina Laganà, Nicolò Venza, Valeria Paoloni, Fabio Bertoldo, Giovanni Ruvolo, Paola Cozza   +5 more
doaj   +1 more source

Fluid dynamics of aortic root dilation in Marfan syndrome

, 2014
Aortic root dilation and propensity to dissection are typical manifestations of the Marfan Syndrome (MS), a genetic defect leading to the degeneration of the elastic fibres. Dilation affects the structure of the flow and, in turn, altered flow may play a
Costantini, Martina, Espa, Stefania, Fortini, Stefania, Querzoli, Giorgio, Sorgini, Francesca   +4 more
core   +1 more source