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Revised genomic organization of FBN1 and significance for regulated gene expression.
Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC. Biery NJ, et al. Among authors: dietz hc. Genomics. 1999 Feb 15;56(1):70-7. doi: 10.1006/geno.1998.5697. Genomics. 1999. PMID: 10036187
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
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.
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
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. Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f. Genomics. 1991. PMID: 2004786
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
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.
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end.
Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Corson GM, et al. Among authors: dietz hc. Genomics. 1993 Aug;17(2):476-84. doi: 10.1006/geno.1993.1350. Genomics. 1993. PMID: 7691719
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.
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
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