Cutting GR - Search Results

1

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Among authors: cutting gr. Genet Med. 2020 Aug;22(8):1288-1295. doi: 10.1038/s41436-020-0822-5. Epub 2020 May 14. Genet Med. 2020. PMID: 32404922 Free PMC article.

2

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. Among authors: cutting gr. 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.

3

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Cutting GR, et al. Am J Hum Genet. 1992 Jun;50(6):1185-94. Am J Hum Genet. 1992. PMID: 1376017 Free PMC article.

4

Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

Lerer I, Sagi M, Cutting GR, Abeliovich D. Lerer I, et al. Among authors: cutting gr. J Med Genet. 1992 Feb;29(2):131-3. doi: 10.1136/jmg.29.2.131. J Med Genet. 1992. PMID: 1377276 Free PMC article.

5

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

Cutting GR, Antonarakis SE, Buetow KH, Kasch LM, Rosenstein BJ, Kazazian HH Jr. Cutting GR, et al. Am J Hum Genet. 1989 Mar;44(3):307-18. Am J Hum Genet. 1989. PMID: 2563631 Free PMC article.

6

Spectrum of mutations in cystic fibrosis.

Cutting GR. Cutting GR. J Bioenerg Biomembr. 1993 Feb;25(1):7-10. doi: 10.1007/BF00768062. J Bioenerg Biomembr. 1993. PMID: 7680032 Review.

7

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: cutting gr. Am J Hum Genet. 1996 Jul;59(1):45-51. Am J Hum Genet. 1996. PMID: 8659542 Free PMC article.

8

Both the wild type and a functional isoform of CFTR are expressed in kidney.

Morales MM, Carroll TP, Morita T, Schwiebert EM, Devuyst O, Wilson PD, Lopes AG, Stanton BA, Dietz HC, Cutting GR, Guggino WB. Morales MM, et al. Among authors: cutting gr. Am J Physiol. 1996 Jun;270(6 Pt 2):F1038-48. doi: 10.1152/ajprenal.1996.270.6.F1038. Am J Physiol. 1996. PMID: 8764323

9

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: cutting gr. Am J Hum Genet. 1997 May;60(5):1122-7. Am J Hum Genet. 1997. PMID: 9150159 Free PMC article.

10

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: cutting gr. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

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