Hamosh A - Search Results

1

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.

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

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.

7

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.

8

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

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

142 results

Search Page

Filters