Hamosh A - Search Results

1

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

2

ClinGen--the Clinical Genome Resource.

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.

3

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.

4

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.

Hamosh A, Rosenstein BJ, Cutting GR. Hamosh A, et al. Hum Mol Genet. 1992 Oct;1(7):542-4. doi: 10.1093/hmg/1.7.542. Hum Mol Genet. 1992. PMID: 1284888 No abstract available.

5

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.

6

Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.

Montrose-Rafizadeh C, Blackmon DL, Hamosh A, Oliva MM, Hawkins AL, Curristin SM, Griffin CA, Yang VW, Guggino WB, Cutting GR, et al. Montrose-Rafizadeh C, et al. Among authors: hamosh a. J Biol Chem. 1992 Sep 25;267(27):19299-305. J Biol Chem. 1992. PMID: 1382071 Free article.

7

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Hamosh A, et al. J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510. J Clin Invest. 1991. PMID: 1721624 Free PMC article.

8

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.

9

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.

10

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.

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