McIntosh I - Search Results

1

Association of human aging with a functional variant of klotho.

Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Arking DE, et al. Among authors: mcintosh i. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):856-61. doi: 10.1073/pnas.022484299. Epub 2002 Jan 15. Proc Natl Acad Sci U S A. 2002. PMID: 11792841 Free PMC article.

2

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: mcintosh i. Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.

3

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. Montgomery RA, et al. Among authors: mcintosh i. Am J Hum Genet. 1998 Dec;63(6):1703-11. doi: 10.1086/302144. Am J Hum Genet. 1998. PMID: 9837823 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: mcintosh i. 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

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: mcintosh i. Nat Genet. 1996 Feb;12(2):209-11. doi: 10.1038/ng0296-209. Nat Genet. 1996. PMID: 8563763

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

7

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Jin Y, Dietz HC, Montgomery RA, Bell WR, McIntosh I, Coller B, Bray PF. Jin Y, et al. Among authors: mcintosh i. J Clin Invest. 1996 Oct 15;98(8):1745-54. doi: 10.1172/JCI118973. J Clin Invest. 1996. PMID: 8878424 Free PMC article.

8

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

9

Nonsense mutations and diminished mRNA levels.

McIntosh I, Hamosh A, Dietz HC. McIntosh I, et al. Nat Genet. 1993 Jul;4(3):219. doi: 10.1038/ng0793-219. Nat Genet. 1993. PMID: 8358428 No abstract available.

10

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, et al. Hamosh A, et al. Among authors: mcintosh i. Am J Hum Genet. 1992 Aug;51(2):245-50. Am J Hum Genet. 1992. PMID: 1379413 Free PMC article.

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