Dietz HC - Search Results

1

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: dietz hc. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731757 Free article.

2

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

3

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.

4

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.

Dietz HC, Kendzior RJ Jr. Dietz HC, et al. Nat Genet. 1994 Oct;8(2):183-8. doi: 10.1038/ng1094-183. Nat Genet. 1994. PMID: 7842017

5

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Dietz HC, Pyeritz RE. Dietz HC, et al. Hum Mol Genet. 1995;4 Spec No:1799-809. doi: 10.1093/hmg/4.suppl_1.1799. Hum Mol Genet. 1995. PMID: 8541880 Review.

6

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. Among authors: dietz hc. Nat Genet. 1996 Feb;12(2):209-11. doi: 10.1038/ng0296-209. Nat Genet. 1996. PMID: 8563763

7

The Marfan syndrome and the cardiovascular surgeon.

Gott VL, Laschinger JC, Cameron DE, Dietz HC, Greene PS, Gillinov AM, Pyeritz RE, Alejo DE, Fleischer KJ, Anhalt GJ, Stone CD, McKusick VA. Gott VL, et al. Among authors: dietz hc. Eur J Cardiothorac Surg. 1996;10(3):149-58. doi: 10.1016/s1010-7940(96)80289-2. Eur J Cardiothorac Surg. 1996. PMID: 8664013

8

Revised diagnostic criteria for the Marfan syndrome.

De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. De Paepe A, et al. Among authors: dietz hc. Am J Med Genet. 1996 Apr 24;62(4):417-26. doi: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8723076

9

Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome.

Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC. Bunton TE, et al. Among authors: dietz hc. Circ Res. 2001 Jan 19;88(1):37-43. doi: 10.1161/01.res.88.1.37. Circ Res. 2001. PMID: 11139471

10

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. Eldadah ZA, et al. Among authors: dietz hc. Hum Mol Genet. 2001 Jan 15;10(2):163-9. doi: 10.1093/hmg/10.2.163. Hum Mol Genet. 2001. PMID: 11152664

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