Results 181 to 190 of about 19,355 (211)

Genetic analysis of a novel FBN1 mutation in a pediatric Marfan syndrome patient. [PDF]

Intractable Rare Dis Res
Zhang X, Zhou L, Liu J, Shan Q, Song Z, Zhou F, Liu L, Luo X.   +7 more
europepmc   +1 more source

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Walker S, Bunyan DJ, Thomas HB, Kesim Y, Kershaw CJ, Holloway J, Wai H, Day M, Smith CL, Hawkes G, Wood AR, Weedon MN, Blair E, Curtis SL, Fielden C, Evans J, Whittington R, Smithson SF, Cox H, Clift P, McEntagart M, Prapa M, Alsters S, Morris-Rosendahl D, Dean J, Morrison PJ, Dixit A, Sarkar A, Prescott K, Riazat Kesh LA, Tharakan R, Turner C, Ellard S, Shaw-Smith C, Fasham J, Clowes V, Holden S, Somarathi S, Mercer C, Berry I, O’Keefe RT, Banka S, Baralle D, Thomas NS, Baple EL, Taylor JC, Pagnamenta AT.   +46 more
europepmc   +1 more source

Mitral annular disjunction and its progression during childhood in Marfan syndrome. [PDF]

Eur Heart J Cardiovasc Imaging
Doan TT, Iturralde Chavez A, Valdes SO, Weigand JD, Wilkinson JC, Parthiban A, Stephens SB, Pignatelli RH, Morris SA.   +8 more
europepmc   +1 more source

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel. [PDF]

Genome Med
Drackley A, Somerville C, Arnaud P, Baudhuin LM, Hanna N, Kluge ML, Kotzer K, Boileau C, Bronicki L, Callewaert B, Cecchi A, Dietz H, Guo D, Harris S, Jarinova O, Lindsay M, Little L, Loeys B, MacCarrick G, Meester J, Milewicz D, Morisaki T, Morisaki H, Murdock D, Renard M, Richer J, Robert L, Ouzounian M, Van Laer L, De Backer J, Muiño-Mosquera L.   +30 more
europepmc   +1 more source

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Marfan syndrome

Nature Reviews Disease Primers, 2021
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries,
Dianna M. Milewicz, Alan C. Braverman, Julie De Backer, Shaine A. Morris, Catherine Boileau, Irene H. Maumenee, Guillaume Jondeau, Arturo Evangelista, Reed E. Pyeritz   +8 more
openaire   +4 more sources

Marfan Syndrome

2023
Abstract: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, involving the cardiovascular, ocular, and skeletal systems, as well as the lungs, dura, and skin. Cardiovascular complications, including aortic root dilatation, aortic dissection and rupture, mitral valve prolapse, mitral and/or aortic valve regurgitation, begin in
Vanhoenacker, Filip, Snoeckx, Annemie, Loeys, Bart   +2 more
openaire   +3 more sources

Marfan's syndrome

Annals of Emergency Medicine, 1980
Asfaw I, Tintinalli JE: Marfan's syndrome. Ann Emerg Med 9:105-107, February 1 980. Marfan's syndrome; syndrome, Marfan's; aortic insufficiency, Marfan's syndro me I NTRODUCTION Judith Tintinalli, MD: The case for discussion today is that of a young woman with Marfan's syndrome and chest pain.
Judith E. Tintinalli, Ingida Asfaw
openaire   +3 more sources