Results 111 to 120 of about 30,022 (221)

Aortic pathology from protein kinase G activation is prevented by an antioxidant vitamin B12 analog. [PDF]

, 2019
People heterozygous for an activating mutation in protein kinase G1 (PRKG1, p.Arg177Gln) develop thoracic aortic aneurysms and dissections (TAAD) as young adults.
Boss, Gerry R, Casteel, Darren E, Dalton, Nancy D, Gu, Yusu, Kalyanaraman, Hema, Lee, Seunghoe, Makino, Ayako, Milewicz, Dianna M, Patel, Hemal H, Peterson, Kirk L, Pilz, Renate B, Schilling, Jan M, Schwaerzer, Gerburg K, Wahwah, Nisreen, Zhang, Qian, Zhuang, Shunhui   +15 more
core   +1 more source

Marfan syndrome: current perspectives

The Application of Clinical Genetics, 2016
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril.
PEPE, GUGLIELMINA, GIUSTI, BETTI, STICCHI, ELENA, ABBATE, ROSANNA, GENSINI, GIAN FRANCO, NISTRI, STEFANO   +5 more
openaire   +5 more sources

MARFAN SYNDROME PRESENTING WITH BILATERAL RETINAL DETACHMENT

National Journal of Medical Research, 2014
Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal
Subrata Chakrabarti, Koushik Pan
doaj  

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. [PDF]

, 2007
BACKGROUND: A 24-year-old man presented with previously diagnosed Marfan\u27s syndrome. Since the age of 9 years, he had undergone eight cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving ...
A De Paepe, B Loeys, BL Loeys, CS Ki, Dianna M Milewicz, DM Milewicz, E Disabella, G Collod, H Dietz, H Pannu, Hariyadarshi Pannu, HC Dietz, J Furlong, Joseph S Coselli, K Kainulainen, LC Ades, Scott A LeMaire, SN Hasham, Stacey A Carter, T Mizuguchi, VA McKusick, Van Tran-Fadulu   +21 more
core   +1 more source

Marfan syndrome. [PDF]

Journal of Medical Genetics, 1997
de Paepe, A., Hennekam, R. C.
openaire   +2 more sources

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome [PDF]

, 2014
BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS.
Ahmad Sajadieh, Bjarke Risgaard, Jacob Tfelt-Hansen, Javad Jabbari, Jesper Svendsen, Jonas B Nielsen, Morten S Olesen, Ren-Qiang Yang, Reza Jabbari, Stig Haunsø, Xiao-Shu Cheng, Xu Chen   +11 more
core   +1 more source

The Marfan Syndrome

, 2017
Marfan syndrome is an autosomal dominant disorder of connective tissue in which abnormalities in the cardiovascular, skeletal, and ocular systems may be present to a highly variable degree. Marfan syndrome is caused by mutations in the FBN1 gene, which affect the structural integrity of the extracellular matrix and weaken the connective tissues ...
Franken, Romy, Mulder, Barbara J. M.
openaire   +1 more source

Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

Lung India, 2009
We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor.
Kate A, Gothi D, Joshi J
doaj  

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]

, 2014
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert, Campens, Laurence, Casteleyn, Christophe, Cornillie, Pieter, Coucke, Paul, De Backer, Julie, De Paepe, Anne, De Vos, Filip, Deleye, Steven, Dietz, Harry, Essers, Jeroen, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, van Heijningen, Paula, Vandeghinste, Bert   +17 more
core   +5 more sources

When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children [PDF]

, 2015
Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility.
Cattalini, Marco, Cimaz, Rolando, Khubchandani, Raju   +2 more
core   +2 more sources