Dietz HC - Search Results

1

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.

Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC; National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group. Pearson GD, et al. Among authors: dietz hc. Circulation. 2008 Aug 12;118(7):785-91. doi: 10.1161/CIRCULATIONAHA.108.783753. Circulation. 2008. PMID: 18695204 Free PMC article. No abstract available.

2

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.

3

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

4

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.

5

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.

6

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.

7

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

Piersall LD, Dietz HC, Hall BD, Cadle RG, Pyeritz RE, Francomano CA, McIntosh I. Piersall LD, et al. Among authors: dietz hc. Hum Mol Genet. 1994 Jun;3(6):1013-4. doi: 10.1093/hmg/3.6.1013. Hum Mol Genet. 1994. PMID: 7951214 Clinical Trial. No abstract available.

8

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.

9

Molecular genetic approaches to the study of human cardiovascular disease.

Dietz HC 3rd, Pyeritz RE. Dietz HC 3rd, et al. Annu Rev Physiol. 1994;56:763-96. doi: 10.1146/annurev.ph.56.030194.003555. Annu Rev Physiol. 1994. PMID: 8010760 Review. No abstract available.

10

Molecular biology--to the heart of the matter.

Dietz HC, Pyeritz RE. Dietz HC, et al. N Engl J Med. 1994 Mar 31;330(13):930-2. doi: 10.1056/NEJM199403313301311. N Engl J Med. 1994. PMID: 8114867 No abstract available.

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