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Results: 1 to 20 of 33

1.

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.

Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC.

J Clin Invest. 2004 Jul;114(2):172-81.

PMID:
15254584
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M.

J Med Genet. 2000 Jan;37(1):9-25. Review.

PMID:
10633129
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Marfan syndrome: new clues to genotype-phenotype correlations.

Ramirez F, Gayraud B, Pereira L.

Ann Med. 1999 Jun;31(3):202-7. Review.

PMID:
10442675
[PubMed - indexed for MEDLINE]
4.

The molecular pathogenesis of the Marfan syndrome.

Robinson PN, Booms P.

Cell Mol Life Sci. 2001 Oct;58(11):1698-707. Review.

PMID:
11706995
[PubMed - indexed for MEDLINE]
5.

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Dietz HC, Pyeritz RE.

Hum Mol Genet. 1995;4 Spec No:1799-809. Review.

PMID:
8541880
[PubMed - indexed for MEDLINE]
6.

Fibrillin in Marfan syndrome and tight skin mice provides new insights into transforming growth factor-beta regulation and systemic sclerosis.

Lemaire R, Bayle J, Lafyatis R.

Curr Opin Rheumatol. 2006 Nov;18(6):582-7. Review.

PMID:
17053502
[PubMed - indexed for MEDLINE]
7.

The molecular basis of Marfan syndrome.

Maslen CL, Glanville RW.

DNA Cell Biol. 1993 Sep;12(7):561-72. Review.

PMID:
8397814
[PubMed - indexed for MEDLINE]
8.

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hayward C, Brock DJ.

Hum Mutat. 1997;10(6):415-23. Review.

PMID:
9401003
[PubMed - indexed for MEDLINE]
9.

Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.

Loeys BL, Matthys DM, de Paepe AM.

Acta Clin Belg. 2003 Jan-Feb;58(1):3-11. Review.

PMID:
12723256
[PubMed - indexed for MEDLINE]
10.

Molecular genetics of Marfan syndrome.

Boileau C, Jondeau G, Mizuguchi T, Matsumoto N.

Curr Opin Cardiol. 2005 May;20(3):194-200. Review.

PMID:
15861007
[PubMed - indexed for MEDLINE]
11.

Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events.

Ramirez F, Dietz HC.

J Cell Physiol. 2007 Nov;213(2):326-30. Review.

PMID:
17708531
[PubMed - indexed for MEDLINE]
12.
13.

Recent progress towards a molecular understanding of Marfan syndrome.

Dietz HC, Loeys B, Carta L, Ramirez F.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):4-9. Review.

PMID:
16273535
[PubMed - indexed for MEDLINE]
14.

The molecular genetics of Marfan syndrome and related disorders.

Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.

J Med Genet. 2006 Oct;43(10):769-87. Epub 2006 Mar 29. Review.

PMID:
16571647
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Microfibrils: a cornerstone of extracellular matrix and a key to understand Marfan syndrome.

Bonetti MI.

Ital J Anat Embryol. 2009 Oct-Dec;114(4):201-24. Review.

PMID:
20578676
[PubMed - indexed for MEDLINE]
16.

Fibrillin: from microfibril assembly to biomechanical function.

Kielty CM, Baldock C, Lee D, Rock MJ, Ashworth JL, Shuttleworth CA.

Philos Trans R Soc Lond B Biol Sci. 2002 Feb 28;357(1418):207-17. Review.

PMID:
11911778
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Fibrillin-1, a calcium binding protein of extracellular matrix.

Handford PA.

Biochim Biophys Acta. 2000 Dec 20;1498(2-3):84-90. Review.

PMID:
11108952
[PubMed - indexed for MEDLINE]
Free Article
18.

Marfan syndrome. Part 1: pathophysiology and diagnosis.

Cañadas V, Vilacosta I, Bruna I, Fuster V.

Nat Rev Cardiol. 2010 May;7(5):256-65. doi: 10.1038/nrcardio.2010.30. Epub 2010 Mar 30. Review.

PMID:
20351703
[PubMed - indexed for MEDLINE]
19.

The fibrillin-Marfan syndrome connection.

Ramirez F, Pereira L, Zhang H, Lee B.

Bioessays. 1993 Sep;15(9):589-94. Review.

PMID:
8240311
[PubMed - indexed for MEDLINE]
20.

Elastic and collagenous networks in vascular diseases.

Arteaga-Solis E, Gayraud B, Ramirez F.

Cell Struct Funct. 2000 Apr;25(2):69-72. Review.

PMID:
10885576
[PubMed - indexed for MEDLINE]
Free PMC Article

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