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Quoted phrase not found in phrase index: "Marfan and Marfan-related disorder"
Page 1
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 …
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
Seo GH, Kim YM, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW. Seo GH, et al. Medicine (Baltimore). 2018 May;97(20):e10767. doi: 10.1097/MD.0000000000010767. Medicine (Baltimore). 2018. PMID: 29768367 Free PMC article.
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. ...
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm …
Clinical and genetic associations in Marfan syndrome and related disorders.
Ramirez F, Lee B, Vitale E. Ramirez F, et al. Mt Sinai J Med. 1992 Sep;59(4):350-6. Mt Sinai J Med. 1992. PMID: 1406753
Surprisingly and serendipitously, these studies also revealed genetic heterogeneity of the fibrillin proteins and established linkage between one of these loci and a Marfan-related disorder, congenital contractural arachnodactyly. Like Marfan syndrome, …
Surprisingly and serendipitously, these studies also revealed genetic heterogeneity of the fibrillin proteins and established linkage betwee …
Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.
Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Bathen T, et al. Am J Med Genet A. 2014 Aug;164A(8):1931-9. doi: 10.1002/ajmg.a.36574. Epub 2014 Apr 9. Am J Med Genet A. 2014. PMID: 24719044
We investigated associations between socio-demographic characteristics, Marfan-related health problems, pain and fatigue. A cross-sectional study was conducted, using a postal questionnaire including the Fatigue Severity Scale (FSS) and questions on socio-demographi …
We investigated associations between socio-demographic characteristics, Marfan-related health problems, pain and fatigue. A cr …
Evidence for Marfan cardiomyopathy.
Alpendurada F, Wong J, Kiotsekoglou A, Banya W, Child A, Prasad SK, Pennell DJ, Mohiaddin RH. Alpendurada F, et al. Eur J Heart Fail. 2010 Oct;12(10):1085-91. doi: 10.1093/eurjhf/hfq127. Eur J Heart Fail. 2010. PMID: 20861133 Free article.
AIM: Marfan syndrome (MFS) is an inherited connective tissue disease which frequently involves the cardiovascular system. ...However, there is still debate whether a primary cardiomyopathy exists. Our aim was to evaluate the existence of a Marfan-related …
AIM: Marfan syndrome (MFS) is an inherited connective tissue disease which frequently involves the cardiovascular system. ...H …
Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue.
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ. Velvin G, et al. Am J Med Genet A. 2015 Dec;167A(12):3082-90. doi: 10.1002/ajmg.a.37370. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420568
Marfan syndrome (MFS) is a severe autosomal dominant connective tissue disorder that might influence peoples work ability. ...
Marfan syndrome (MFS) is a severe autosomal dominant connective tissue disorder that might influence peoples work ability. ...
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. Comeglio P, et al. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9505. Hum Mutat. 2007. PMID: 17657824
Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic sequencing of abnormal ba …
Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disord …
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 …
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Loeys B, et al. Arch Intern Med. 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447. Arch Intern Med. 2001. PMID: 11700157
BACKGROUND: Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). ...Molecular analysis may be helpful to identify at-risk individuals early and start prophylactic medical treatm …
BACKGROUND: Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the g …
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 …
13 results