AR-41135/AR/NIAMS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1993	1
1995	1
1996	1
2001	2
2004	2
2005	1
2006	1
2007	1
2008	1
2012	1
2024	0

1

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. Robinson PN, et al. J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29. J Med Genet. 2006. PMID: 16571647 Free PMC article. Review.

2

Recent progress towards a molecular understanding of Marfan syndrome.

Dietz HC, Loeys B, Carta L, Ramirez F. Dietz HC, et al. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):4-9. doi: 10.1002/ajmg.c.30068. Am J Med Genet C Semin Med Genet. 2005. PMID: 16273535 Review.

3

Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice.

Hanada K, Vermeij M, Garinis GA, de Waard MC, Kunen MG, Myers L, Maas A, Duncker DJ, Meijers C, Dietz HC, Kanaar R, Essers J. Hanada K, et al. Circ Res. 2007 Mar 16;100(5):738-46. doi: 10.1161/01.RES.0000260181.19449.95. Epub 2007 Feb 9. Circ Res. 2007. PMID: 17293478

4

Targeting collagen strands by photo-triggered triple-helix hybridization.

Li Y, Foss CA, Summerfield DD, Doyle JJ, Torok CM, Dietz HC, Pomper MG, Yu SM. Li Y, et al. Proc Natl Acad Sci U S A. 2012 Sep 11;109(37):14767-72. doi: 10.1073/pnas.1209721109. Epub 2012 Aug 27. Proc Natl Acad Sci U S A. 2012. PMID: 22927373 Free PMC article.

5

Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology.

Ramirez F, Sakai LY, Dietz HC, Rifkin DB. Ramirez F, et al. Physiol Genomics. 2004 Oct 4;19(2):151-4. doi: 10.1152/physiolgenomics.00092.2004. Physiol Genomics. 2004. PMID: 15466717 Review.

6

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Nijbroek G, et al. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

7

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.

Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Guo D, et al. Circulation. 2001 May 22;103(20):2461-8. doi: 10.1161/01.cir.103.20.2461. Circulation. 2001. PMID: 11369686

8

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Sood S, et al. Nat Genet. 1996 Feb;12(2):209-11. doi: 10.1038/ng0296-209. Nat Genet. 1996. PMID: 8563763

9

The skipping of constitutive exons in vivo induced by nonsense mutations.

Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. Dietz HC, et al. Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317. Science. 1993. PMID: 8430317

10

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. Judge DP, et al. J Clin Invest. 2004 Jul;114(2):172-81. doi: 10.1172/JCI20641. J Clin Invest. 2004. PMID: 15254584 Free PMC article.

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