Results 111 to 120 of about 1,472 (192)

Biomarkers and Genetics in Marfan Syndrome [PDF]

, 2014
Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder, associated with sudden death of affected individuals due to dissection of a thoracic aortic aneurysm (TAA). The detailed pathogenesis remains uncertain, but all patients
Lu, Yaxin
core  

A Case of Congenital Contractural Arachnodactyly Associated with Slipped Capital Femoral Epiphysis due to Hypopituitarism.

, 1994
Minoru Shiraishi, Hiroshi Mizuta, Yutaka Otsuka, Noriyoshi Nagamoto, Kenji Kubota, Nobuo KIMURA, Katsumasa Takagi   +6 more
openalex   +2 more sources

Beals syndrome (congenital contractural arachnodactyly) in children: Clinical symptoms, diagnosis, treatment, and prevention

, 2016
А. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, М. Н. Харабадзе, Е. А. Николаева, A. V. Polyakov   +6 more
openalex   +2 more sources

Congenital Contractural Arachnodactyly; two unrelated newborns with novel clinical findings [PDF]

, 2012
İbrahim Akalın, Didem Armangil, Esad Köklü   +2 more
openalex   +1 more source

Congenital contractural arachnodactyly.

Indian pediatrics, 1996
M L, Kulkarni, C S, Kumar, V, Venkataramana, V G, George, M, Bhagyavathi   +4 more
openaire   +1 more source

The revised Ghent nosology for the Marfan syndrome [PDF]

A. C. Braverman, A. M. De Paepe, B. L. Callewaert, B. L. Loeys, D. M. Milewicz, G. Jondeau, H. C. Dietz, J. De Backer, L. Faivre, P. D. Sponseller, P. Wordsworth, R. B. Devereux, R. E. Pyeritz, Y. Hilhorst-Hofstee   +13 more
core   +1 more source

Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia. [PDF]

Front Genet, 2023
Guo L, Qiang R, Zhang Y, Simsek-Kiper PO.   +3 more
europepmc   +1 more source

Congenital contractural arachnodactyly.

The Western journal of medicine, 1974
M S, Hale, H D, Rodman, J, Lipshin
openaire   +1 more source

Congenital contractural arachnodactyly.

Journal of postgraduate medicine, 1978
N B, Kumta, S F, Irani, R R, Sekhri, D V, Punwani   +3 more
openaire   +1 more source

Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated with Congenital Contractural Arachnodactyly (CCA), also known as Beal's Syndrome

, 2000
Darcie Babcock
openalex   +2 more sources