Hamosh A - 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: hamosh a. 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: hamosh a. Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.

3

CFTR protein expression in primary and cultured epithelia.

Zeitlin PL, Crawford I, Lu L, Woel S, Cohen ME, Donowitz M, Montrose MH, Hamosh A, Cutting GR, Gruenert D, et al. Zeitlin PL, et al. Among authors: hamosh a. Proc Natl Acad Sci U S A. 1992 Jan 1;89(1):344-7. doi: 10.1073/pnas.89.1.344. Proc Natl Acad Sci U S A. 1992. PMID: 1370353 Free PMC article.

4

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. Am J Hum Genet. 1992 Aug;51(2):245-50. Am J Hum Genet. 1992. PMID: 1379413 Free PMC article.

5

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: hamosh a. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

6

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: hamosh a. Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f. Genomics. 1991. PMID: 2004786 Free article.

7

Nonsense mutations and diminished mRNA levels.

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

8

Nonstop treatment of cystic fibrosis.

Dietz HC, Hamosh A. Dietz HC, et al. Among authors: hamosh a. Nat Med. 1996 Jun;2(6):608-9. doi: 10.1038/nm0696-608b. Nat Med. 1996. PMID: 8640540 No abstract available.

9

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

Miller PW, Hamosh A, Macek M Jr, Greenberger PA, MacLean J, Walden SM, Slavin RG, Cutting GR. Miller PW, et al. Among authors: hamosh a. Am J Hum Genet. 1996 Jul;59(1):45-51. Am J Hum Genet. 1996. PMID: 8659542 Free PMC article.

10

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.

Macek M Jr, Mercier B, Macková A, Miller PW, Hamosh A, Férec C, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Hum Mutat. 1997;9(2):136-47. doi: 10.1002/(SICI)1098-1004(1997)9:2<136::AID-HUMU6>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9067754

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