Results 91 to 100 of about 240,041 (144)

High-Throughput Genomics Identify Novel <i>FBN1/2</i> Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects. [PDF]

Int J Mol Sci
Zodanu GKE, Hwang JH, Mehta Z, Sisniega C, Barsegian A, Kang X, Biniwale R, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defect BioCore Faculty, Grody WW, Van Arsdell GS, Nelson SF, Touma M.   +14 more
europepmc   +1 more source

A multiscale computational model of ascending thoracic aortic aneurysm development in Marfan syndrome for in silico trials. [PDF]

Biomech Model Mechanobiol
Jansen L, Maes L, Verbrugghe P, Segers P, Sips P, Humphrey JD, Famaey N.   +6 more
europepmc   +1 more source

Management of failed carpal tunnel decompression. [PDF]

EFORT Open Rev
Decramer A, Heras-Palou C, Van Nuffel M, Lattré T, Degreef I.   +4 more
europepmc   +1 more source

The role of genetics and molecular mechanisms in early onset scoliosis. [PDF]

J Clin Orthop Trauma
Feng S, Feng S, Du Y, Choi SW, Cheung KSC, Cheung JPY, Su Z.   +6 more
europepmc   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report. [PDF]

Cureus
Purvez A, Mir A, Bashir M.
europepmc   +1 more source

Exome sequencing uncovers promising candidate genes for foetal structural malformations. [PDF]

Indian J Med Res
Sudhakar DV, Joseph S, Bansal V, Gangurde A, Nitin Minde N, Gawde H, Pande SS.   +6 more
europepmc   +1 more source

Congenital contractural arachnodactyly

, 2016
Blair, E, Igbokwe, R, Suri, M, Stolte-Dijkstra, I, Dali, CI, Yadav, D, De Paepe, Anne, Petit, F, Topa, A, Symoens, Sofie, Bayat, A, Keymolen, K, Meerschaut, Ilse, Willems, P, De Backer, Julie, Oosterwijk, JC, Lynch, S, Berland, S, Callewaert, Bert, Collins, A, Thomas, E, Male, A, Cheryl, L, Laitinen, V, Mckenzie, F, Coucke, Paul, De Coninck, Shana, Garcia Minaur, S, Steyaert, Wouter, Jones, G, Destree, A   +30 more
core  

The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways. [PDF]

Med Sci (Basel)
Dreher L, Abdul Nabi H, Vandolah H, Brennan S, Bcharah G, Bcharah H, Osundiji MA, Baudhuin LM, Shamoun FE.   +8 more
europepmc   +1 more source