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Marfan syndrome: from gene to therapy.
Bolar N, Van Laer L, Loeys BL. Bolar N, et al. Curr Opin Pediatr. 2012 Aug;24(4):498-504. doi: 10.1097/MOP.0b013e3283557d4c. Curr Opin Pediatr. 2012. PMID: 22705998 Review.
PURPOSE OF REVIEW: Although historically Marfan syndrome (MFS) has always been considered as a condition caused by the deficiency of a structural extracellular matrix protein, fibrillin-1, the study of Marfan mouse models and Marfan-related conditions …
PURPOSE OF REVIEW: Although historically Marfan syndrome (MFS) has always been considered as a condition caused by the deficiency of …
Microfibrils: a cornerstone of extracellular matrix and a key to understand Marfan syndrome.
Bonetti MI. Bonetti MI. Ital J Anat Embryol. 2009 Oct-Dec;114(4):201-24. Ital J Anat Embryol. 2009. PMID: 20578676 Review.
Other concurring molecules are microfibril associated proteins (MFAPs) and microfibril associated glycoproteins (MAGPs); they, and other peripheral molecules, contribute to link microfibrils to elastin, to other extracellular matrix components and to cells. Fibrillinopathies are …
Other concurring molecules are microfibril associated proteins (MFAPs) and microfibril associated glycoproteins (MAGPs); they, and other per …
Overgrowth syndromes:from classical to new.
Visser R, Kant SG, Wit JM, Breuning MH. Visser R, et al. Pediatr Endocrinol Rev. 2009 Mar;6(3):375-94. Pediatr Endocrinol Rev. 2009. PMID: 19396024 Review.
Overgrowth syndromes are a group of growth disorders which have gained joint attention from the fields of pediatrics, endocrinology and genetics. ...Identification of new pathogenic alterations in these patients, best exemplified by the Marfan-related syndrom …
Overgrowth syndromes are a group of growth disorders which have gained joint attention from the fields of pediatrics, endocrinology a …
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A. Jamsheer A, et al. J Appl Genet. 2009;50(4):405-10. doi: 10.1007/BF03195701. J Appl Genet. 2009. PMID: 19875893 Review.
We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphis …
We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the g …
[Marfan-related conditions].
Minami S. Minami S. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):538-41. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645128 Review. Japanese. No abstract available.