Dietz HC - Search Results

1

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.

Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. Habashi JP, et al. Among authors: dietz hc. Science. 2006 Apr 7;312(5770):117-21. doi: 10.1126/science.1124287. Science. 2006. PMID: 16601194 Free PMC article.

2

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Dietz HC, et al. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

3

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

4

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

5

Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations.

Eldadah ZA, Grifo JA, Dietz HC. Eldadah ZA, et al. Among authors: dietz hc. Nat Med. 1995 Aug;1(8):798-803. doi: 10.1038/nm0895-798. Nat Med. 1995. PMID: 7585183

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. Among authors: dietz hc. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

7

Marfan's syndrome and other microfibrillar diseases.

Dietz HC, Ramirez F, Sakai LY. Dietz HC, et al. Adv Hum Genet. 1994;22:153-86. doi: 10.1007/978-1-4757-9062-7_4. Adv Hum Genet. 1994. PMID: 7762452 Review. No abstract available.

8

The question of heterogeneity in Marfan syndrome.

Dietz H, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R. Dietz H, et al. Nat Genet. 1995 Mar;9(3):228-31. doi: 10.1038/ng0395-228. Nat Genet. 1995. PMID: 7773282 No abstract available.

9

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC. Pereira L, et al. Among authors: dietz hc. N Engl J Med. 1994 Jul 21;331(3):148-53. doi: 10.1056/NEJM199407213310302. N Engl J Med. 1994. PMID: 8008028 Free article.

10

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.

Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Aoyama T, et al. Among authors: dietz hc. Hum Mol Genet. 1993 Dec;2(12):2135-40. doi: 10.1093/hmg/2.12.2135. Hum Mol Genet. 1993. PMID: 8111384

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