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Results: 16

1.

Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.

Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ.

Am J Med. 2013 Aug;126(8):670-8. doi: 10.1016/j.amjmed.2013.01.029. Epub 2013 Jun 22. Review.

PMID:
23800581
2.

Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.

Davis MR, Summers KM.

Mol Genet Metab. 2012 Dec;107(4):635-47. doi: 10.1016/j.ymgme.2012.07.023. Epub 2012 Aug 3. Review.

PMID:
22921888
3.

Extracellular regulation of transforming growth factor beta and bone morphogenetic protein signaling in bone.

Nistala H, Lee-Arteaga S, Siciliano G, Smaldone S, Ramirez F.

Ann N Y Acad Sci. 2010 Mar;1192:253-6. doi: 10.1111/j.1749-6632.2009.05350.x. Review.

PMID:
20392244
4.

Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.

Gao LG, Luo F, Hui RT, Zhou XL.

Ageing Res Rev. 2010 Jul;9(3):363-8. doi: 10.1016/j.arr.2009.09.001. Epub 2009 Sep 17. Review.

PMID:
19772952
5.

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM.

Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Review.

PMID:
19006240
6.

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
7.

Congenital contractural arachnodactyly (Beals syndrome).

Tunçbilek E, Alanay Y.

Orphanet J Rare Dis. 2006 Jun 1;1:20. Review.

8.

Beals-Hecht syndrome.

Jones JL, Lane JE, Logan JJ, Vanegas ME.

South Med J. 2002 Jul;95(7):753-5. Review.

PMID:
12144083
9.

Genetic disorders of the elastic fiber system.

Milewicz DM, Urbán Z, Boyd C.

Matrix Biol. 2000 Nov;19(6):471-80. Review.

PMID:
11068201
10.

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M.

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

11.

The fibrillins.

Ramirez F, Pereira L.

Int J Biochem Cell Biol. 1999 Feb;31(2):255-9. Review.

PMID:
10216958
12.

Fibrillln mutations in Marfan syndrome and related phenotypes.

Ramirez F.

Curr Opin Genet Dev. 1996 Jun;6(3):309-15. Review.

PMID:
8791520
13.

Congenital contractural arachnodactyly.

Kulkarni ML, Kumar CS, Venkataramana V, George VG, Bhagyavathi M.

Indian Pediatr. 1995 Jan;32(1):82-7. Review. No abstract available.

PMID:
8617541
14.

Molecular pathology of the elastic fibers.

Christiano AM, Uitto J.

J Invest Dermatol. 1994 Nov;103(5 Suppl):53S-57S. Review.

PMID:
7963685
15.

Congenital contractural arachnodactyly (Beals syndrome).

Viljoen D.

J Med Genet. 1994 Aug;31(8):640-3. Review.

16.

The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

Hall JG, Reed SD, Greene G.

Am J Med Genet. 1982 Feb;11(2):185-239. Review.

PMID:
7039311
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