Hamosh A - Search Results

1

Online Mendelian Inheritance in Man (OMIM).

Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Hamosh A, et al. Hum Mutat. 2000;15(1):57-61. doi: 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G. Hum Mutat. 2000. PMID: 10612823

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 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.

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

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.

6

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

7

Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Am J Hum Genet. 1997 May;60(5):1122-7. Am J Hum Genet. 1997. PMID: 9150159 Free PMC article.

8

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.

Macek M Jr, Macek M Sr, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

9

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. Eldadah ZA, et al. Among authors: hamosh a. Hum Mol Genet. 2001 Jan 15;10(2):163-9. doi: 10.1093/hmg/10.2.163. Hum Mol Genet. 2001. PMID: 11152664

10

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA. Hamosh A, et al. Nucleic Acids Res. 2002 Jan 1;30(1):52-5. doi: 10.1093/nar/30.1.52. Nucleic Acids Res. 2002. PMID: 11752252 Free PMC article.

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