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Items: 1 to 20 of 46

1.

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.

Peng Q, Deng Y, Yang Y, Liu H.

BMC Pediatr. 2016 Apr 30;16(1):60. doi: 10.1186/s12887-016-0598-6.

2.

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B.

BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4.

3.

Fibrillin-containing microfibrils are key signal relay stations for cell function.

Zeyer KA, Reinhardt DP.

J Cell Commun Signal. 2015 Dec;9(4):309-25. doi: 10.1007/s12079-015-0307-5. Epub 2015 Oct 8.

4.

Role played by Prx1-dependent extracellular matrix properties in vascular smooth muscle development in embryonic lungs.

Ihida-Stansbury K, Ames J, Chokshi M, Aiad N, Sanyal S, Kawabata KC, Levental I, Sundararaghavan HG, Burdick JA, Janmey P, Miyazono K, Wells RG, Jones PL.

Pulm Circ. 2015 Jun;5(2):382-97. doi: 10.1086/681272.

5.

The dynamic sclera: extracellular matrix remodeling in normal ocular growth and myopia development.

Harper AR, Summers JA.

Exp Eye Res. 2015 Apr;133:100-11. doi: 10.1016/j.exer.2014.07.015. Review.

6.

TGF-β signaling and the development of osteoarthritis.

Shen J, Li S, Chen D.

Bone Res. 2014;2. pii: 14002.

7.

Biglycan deficiency: increased aortic aneurysm formation and lack of atheroprotection.

Tang T, Thompson JC, Wilson PG, Yoder MH, Müeller J, Fischer JW, Williams KJ, Tannock LR.

J Mol Cell Cardiol. 2014 Oct;75:174-80. doi: 10.1016/j.yjmcc.2014.07.014. Epub 2014 Aug 2.

8.

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Fu Q, Liu P, Lu Q, Wang F, Wang H, Shen W, Xu F, Liu L, Sergeev YV, Sui R.

Mol Vis. 2014 Jun 12;20:812-21. eCollection 2014.

9.

Protein-protein interactions and genetic diseases: The interactome.

Lage K.

Biochim Biophys Acta. 2014 Oct;1842(10):1971-1980. doi: 10.1016/j.bbadis.2014.05.028. Epub 2014 Jun 2. Review.

10.
11.

Platelet TGF-β1 contributions to plasma TGF-β1, cardiac fibrosis, and systolic dysfunction in a mouse model of pressure overload.

Meyer A, Wang W, Qu J, Croft L, Degen JL, Coller BS, Ahamed J.

Blood. 2012 Jan 26;119(4):1064-74. doi: 10.1182/blood-2011-09-377648. Epub 2011 Dec 1.

12.

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.

Meng B, Li H, Yang T, Huang S, Sun X, Yuan H.

Mol Vis. 2011;17:2421-7. Epub 2011 Sep 17.

13.

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis.

Olivieri J, Smaldone S, Ramirez F.

Fibrogenesis Tissue Repair. 2010 Dec 2;3:24. doi: 10.1186/1755-1536-3-24.

14.

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Schäbitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G.

Hum Mutat. 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372.

15.

FBN1 mutations in patients with descending thoracic aortic dissections.

Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW.

Am J Med Genet A. 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856.

16.

Biogenesis and function of fibrillin assemblies.

Ramirez F, Sakai LY.

Cell Tissue Res. 2010 Jan;339(1):71-82. doi: 10.1007/s00441-009-0822-x. Epub 2009 Jun 10. Review.

17.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C.

Nucleic Acids Res. 2009 May;37(9):e67. doi: 10.1093/nar/gkp215. Epub 2009 Apr 1.

18.

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18.

19.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Apr;17(4):491-501. doi: 10.1038/ejhg.2008.207. Epub 2008 Nov 12.

20.

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.

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