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Items: 1 to 20 of 28

1.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V.

J Med Genet. 2003 Jan;40(1):34-6.

2.

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2003 Dec 1;123A(2):204-7. Review.

PMID:
14598350
3.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
4.

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
5.

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M.

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

6.

Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.

Hubmacher D, Apte SS.

Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20. Review.

7.

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
8.

ADAMTS proteins as modulators of microfibril formation and function.

Hubmacher D, Apte SS.

Matrix Biol. 2015 Sep;47:34-43. doi: 10.1016/j.matbio.2015.05.004. Epub 2015 May 7. Review.

9.

The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?

Sengle G, Sakai LY.

Matrix Biol. 2015 Sep;47:3-12. doi: 10.1016/j.matbio.2015.05.002. Epub 2015 May 7. Review.

10.

Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.

Furthmayr H, Francke U.

Semin Thorac Cardiovasc Surg. 1997 Jul;9(3):191-205. Review.

PMID:
9263339
11.

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
12.

Marfan syndrome and fibrillin disorders.

Le Parc JM, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella PJ.

Joint Bone Spine. 2000;67(5):401-7. Review.

PMID:
11143906
13.

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T.

Hum Mutat. 2002 Sep;20(3):153-61. Review.

PMID:
12203987
14.

The molecular pathogenesis of the Marfan syndrome.

Robinson PN, Booms P.

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

PMID:
11706995
15.

Weill-Marchesani Syndrome.

Tsilou E, MacDonald IM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Nov 1 [updated 2013 Feb 14].

17.

The molecular basis of Marfan syndrome.

Maslen CL, Glanville RW.

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

PMID:
8397814
18.

Marfan syndrome: orthopedic and genetic review.

Giampietro PF, Raggio C, Davis JG.

Curr Opin Pediatr. 2002 Feb;14(1):35-41. Review. Erratum in: Curr Opin Pediatr 2002 Apr;14(2):286.

PMID:
11880731
19.
20.

Weill-Marchesani syndrome in three generations.

Evereklioglu C, Hepsen IF, Er H.

Eye (Lond). 1999 Dec;13 ( Pt 6):773-7. Review.

PMID:
10707143

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