Dietz HC - Search Results

1

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. Meester JAN, et al. Among authors: dietz hc. Genet Med. 2022 May;24(5):1045-1053. doi: 10.1016/j.gim.2021.12.015. Epub 2022 Jan 17. Genet Med. 2022. PMID: 35058154 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

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.

4

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.

5

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

6

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Dietz HC, et al. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349. Genomics. 1993. PMID: 8406497 Free article.

7

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.

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

9

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

10

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

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