Cutting GR - Search Results

1

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Corzo D, et al. Among authors: cutting gr. Am J Hum Genet. 2002 Jun;70(6):1520-31. doi: 10.1086/340849. Epub 2002 Apr 29. Am J Hum Genet. 2002. PMID: 11992258 Free PMC article.

2

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.

3

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.

Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Boehm CD, et al. Among authors: cutting gr. Mol Genet Metab. 1999 Feb;66(2):128-36. doi: 10.1006/mgme.1998.2779. Mol Genet Metab. 1999. PMID: 10068516 Free article.

4

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. Kemp S, et al. Among authors: cutting gr. Hum Mutat. 2001 Dec;18(6):499-515. doi: 10.1002/humu.1227. Hum Mutat. 2001. PMID: 11748843 Review.

5

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N. Steinberg S, et al. Mol Genet Metab. 2004 Nov;83(3):252-63. doi: 10.1016/j.ymgme.2004.08.008. Mol Genet Metab. 2004. PMID: 15542397

6

Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.

Steinberg S, Katsanis S, Moser A, Cutting G. Steinberg S, et al. J Med Genet. 2005 Jan;42(1):38-44. doi: 10.1136/jmg.2004.023556. J Med Genet. 2005. PMID: 15635073 Free PMC article.

7

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S. Wang Y, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. doi: 10.1016/j.ymgme.2011.05.016. Epub 2011 Jun 22. Mol Genet Metab. 2011. PMID: 21700483

8

Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.

O'Neal WK, Gallins P, Pace RG, Dang H, Wolf WE, Jones LC, Guo X, Zhou YH, Madar V, Huang J, Liang L, Moffatt MF, Cutting GR, Drumm ML, Rommens JM, Strug LJ, Sun W, Stonebraker JR, Wright FA, Knowles MR. O'Neal WK, et al. Among authors: cutting gr. Am J Hum Genet. 2015 Feb 5;96(2):318-28. doi: 10.1016/j.ajhg.2014.12.022. Epub 2015 Jan 29. Am J Hum Genet. 2015. PMID: 25640674 Free PMC article.

9

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.

10

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.

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