Results 41 to 50 of about 35,038 (256)

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

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. [PDF]

, 1996
Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules.
Buchberg, Arthur M., Christner, Paul J., Jimenez, Sergio A., Ma, Qing, Manne, Jayanthi, McGrath, Rodney, Moskow, John J., Siracusa, Linda D.   +7 more
core   +3 more sources

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

Genetic testing in Marfan syndrome [PDF]

, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Seminoma in Marfan's syndrome [PDF]

Postgraduate Medical Journal, 1979
Summary A patient with a testicular seminoma and Marfan's syndrome is described. The association is unlikely to be by chance alone, and an explanation in terms of either an associated congenital defect, or a minor chromosomal anomaly, is discussed.
A A, Epenetos, C H, Collis
openaire   +2 more sources

Unexpected Giant Right Coronary Artery Aneurysm Diagnosed by Computed Tomography Angiography in the Emergency Department

Journal of Clinical Ultrasound, EarlyView.
3D Volume Rendering coronary CTA reconstruction showing a giant thrombosed aneurysm of the proximal right coronary artery ABSTRACT Giant coronary artery aneurysms (GCAA) are usually defined as diameter > 8 mm or > 400% of the adjacent normal segment; they are very rare (reported prevalence ≈0.02%).
Stefano Giusto Picchi, Giulia Lassandro, Rosita Comune, Filomena Pezzullo, Stefania Tamburrini, Giulio Cocco, Nino Cocco, Domenico Tafuri, Antonio Corvino   +8 more
wiley   +1 more source

A large French family with TGFBR2 pathogenic variant: illustration of variability

Orphanet Journal of Rare Diseases
Aims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou, Olivier Milleron, Skerdi Haviari, Florence Arnoult, Nadine Hanna, Pauline Arnaud, Fadima Toure, Sabrine Jadoui, Arienne Mirmiran, Catherine Boileau, Guillaume Jondeau   +10 more
doaj   +1 more source

P3.4 PULSE WAVE REFLECTIONS AND THEIR DIURNAL CHANGES IN PATIENTS WITH MARFAN SYNDROME COMPARED TO HEALTHY CONTROLS

Artery Research, 2015
Introduction: Patients with Marfan syndrome may suffer from a variety of symptoms, including changes of the cardiovascular system. The aim of this study was to perform ambulatory 24 hour blood pressure and pulse wave measurements in a group of Marfan ...
Bernhard Hametner*, Matthias Hillebrand, Ghazaleh Nouri, Stephanie Parragh, Jelena Köster, Kai Mortensen, Achim Schwarz, Yskert von Kodolitsch, Siegfried Wassertheurer   +8 more
doaj   +1 more source

Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Stiffer aortas are associated with a faster rate of aortic root (AoR) dilation and higher risk of aortic dissection in patients with Marfan syndrome.
Elif Seda Selamet Tierney, Sukyung Chung, Katie Jo Stauffer, Jerrid Brabender, Ronnie Thomad Collins, Robert Folk, Weidang Li, Ashlesh K. Murthy, Daniel Jerome Murphy, Mitra Esfandiarei   +9 more
doaj   +1 more source

Comorbidities Associated with Large Abdominal Aortic Aneurysms [PDF]

, 2019
BACKGROUND: Abdominal aortic aneurysm has become increasingly important owing to demographic changes. Some other diseases, for example, cholecystolithiasis, chronic obstructive pulmonary disease, and hernias, seem to co-occur with abdominal aortic ...
Althoff, Christian E., Greiner, Andreas, Hinterseher, Irene, Kuivaniemi, Helena, Miszczuk, Milena, Müller, Verena, Stroux, Andrea   +6 more
core   +1 more source