Results 111 to 120 of about 19,820 (226)

Manifestações Cardiovasculares em Paciente Portador de Síndrome de Marfan: Relato de Caso / Cardiovascular Manifestations in a Patient With Marfan's Syndrome: Case Report

Revista Ciências em Saúde, 2014
Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida, Fábio Sergio Ferreira Resende Fonseca, Flávia Sala Pasquinelli   +2 more
doaj   +1 more source

Mutation Spectrum of the Fibrillin-1 (Fbn1) Gene in Taiwanese Patients with Marfan Syndrome

, 2010
P>The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population.
HUNG, CHIA-CHENG;LEE, CHIEN-NAN;CHENG, HUI-YU;LIN, SHUAN-PEI;CHEN, MING-REN;CHEN, CHIH-PING;CHANG, CHIEN-HUI;YU, CHIH- CHIEH;CHIU, HSIN-HUI;CHENG, WEN-FANG;HO, HONG-NERNG;NIU, DAU-MING;SU, YI-NING, 洪加政;李建南;鄭惠予;林炫沛;陳銘仁;陳持平;張千慧;游治節;邱馨慧;鄭文芳;何弘能;牛道明;蘇怡寧   +1 more
core  

What is new in the Marfan syndrome?

, 2004
The Marfan syndrome is an autosomal dominant disorder of connective tissue, caused by mutations in the FBN1 gene on chromosome 15. More than 500 mutations have been identified and almost all are unique to an affected individual or family.
Nollen, G. J., Mulder, B. J. M.
core   +1 more source

Determinants of fatigue in patients with Marfan syndrome: a study using PROMS

Orphanet Journal of Rare Diseases
Background Fatigue is often reported by individuals with Marfan syndrome (MFS). However, the determinants of fatigue and its impact on the daily lives of patients with MFS remain poorly understood.
Ines Cavalier, Leslie Toko Kamga, Laurence Morin, Laurence Bal, Laurence Faivre, Guillaume Jondeau, Viet-Thi Tran, Olivier Milleron   +7 more
doaj   +1 more source

Compound-heterozygous Marfan syndrome.

, 2009
Contains fulltext : 81680.pdf (Publisher’s version ) (Closed access)We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS).
van Dijk, F. S., Dijk, F.S. Van, Cobben, J. M., Mulder, B.J.M., Timmermans, J., Hamel, B.C.J., Mulder, B.J., Hamel, B.C., Hilhorst-Hofstee, Y., van Dijk, F.S., Hamel, B. C., Cobben, J.M., Mulder, B. J. M., Pals, G.   +13 more
core   +1 more source

Coil embolization of bilateral internal mammary artery aneurysms is durable in a patient with Marfan syndrome

Journal of Vascular Surgery Cases and Innovative Techniques, 2018
Internal mammary artery (IMA) aneurysms are very rare, have a high risk of rupture, and can cause hemothorax. Here, we report the case of a 33-year-old man with metachronal and bilateral IMA aneurysms. He had Marfan syndrome diagnosed by genetic testing.
Toshiki Fujiyoshi, MD, Toshiya Nishibe, MD, PhD, Nobusato Koizumi, MD, PhD, Hitoshi Ogino, MD, PhD   +3 more
doaj   +1 more source

Marfan syndrome. [PDF]

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

Marfan Syndrome, A Review

, 2018
Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for
Pals, Gerard
core   +1 more source

Cecal volvulus in Marfan Syndrome [PDF]

Gastrointestinal pathology in adult patients with Marfan Syndrome is rarely reported in literature. Nevertheless, it could be life threatening when it occurs.
Rashid, Amir, Ward, Stephen, Yip, Swee Yan   +2 more
core   +1 more source

AN EXCLUSION MAP OF MARFAN-SYNDROME

, 1990
The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers.
Blanton, S H, Farndon, PA, Sarfarazi, M, Kilpatrick, M W, Blanton, SH, Child, AH, Child, A H, Pope, F M, Eiberg, H, de Groote, J, Francomano, CA, Peltonen, L, Kilpatrick, MW, Farndon, P A, Pope, FM, Francomano, C A   +15 more
core   +1 more source