Pyeritz RE - Search Results

1

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. Among authors: pyeritz re. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349. Genomics. 1993. PMID: 8406497 Free article.

2

Marfan syndrome: exclusion of genetic linkage to three major collagen genes.

Francomano CA, Streeten EA, Meyers DA, Pyeritz RE. Francomano CA, et al. Among authors: pyeritz re. Am J Med Genet. 1988 Feb;29(2):457-62. doi: 10.1002/ajmg.1320290233. Am J Med Genet. 1988. PMID: 3354620

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: pyeritz re. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

4

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: pyeritz re. 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.

5

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. Among authors: pyeritz re. Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317. Science. 1993. PMID: 8430317

6

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

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

7

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. Among authors: pyeritz re. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

8

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. Among authors: pyeritz re. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

9

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. Among authors: pyeritz re. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

10

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. Dietz HC, et al. Among authors: pyeritz re. Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f. Genomics. 1991. PMID: 2004786 Free article.

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