Cole FS - Search Results

1

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Royer-Pokora B, et al. Among authors: cole fs. Nature. 1986 Jul 3-9;322(6074):32-8. doi: 10.1038/322032a0. Nature. 1986. PMID: 2425263 Free article.

2

Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.

Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Royer-Pokora B, et al. Among authors: cole fs. Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:177-83. doi: 10.1101/sqb.1986.051.01.021. Cold Spring Harb Symp Quant Biol. 1986. PMID: 3472714 No abstract available.

3

Quantification of rare allelic variants from pooled genomic DNA.

Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Druley TE, et al. Among authors: cole fs. Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1. Nat Methods. 2009. PMID: 19252504 Free PMC article.

4

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Wambach JA, et al. Among authors: cole fs. Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19. Pediatrics. 2012. PMID: 23166334 Free PMC article.

5

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS. Wambach JA, et al. Among authors: cole fs. J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20. J Pediatr. 2014. PMID: 24657120 Free PMC article.

6

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A. Wambach JA, et al. Among authors: cole fs. Pediatr Res. 2010 Sep;68(3):216-20. doi: 10.1203/PDR.0b013e3181eb5d68. Pediatr Res. 2010. PMID: 20539253 Free PMC article.

7

Genetic variant characterization in intron 4 of the surfactant protein B gene.

Hamvas A, Wegner DJ, Trusgnich MA, Madden K, Heins H, Liu Y, Rice T, An P, Watkins-Torry J, Cole FS. Hamvas A, et al. Among authors: cole fs. Hum Mutat. 2005 Nov;26(5):494-5. doi: 10.1002/humu.9378. Hum Mutat. 2005. PMID: 16211553

8

Comprehensive genetic variant discovery in the surfactant protein B gene.

Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Hamvas A, et al. Among authors: cole fs. Pediatr Res. 2007 Aug;62(2):170-5. doi: 10.1203/PDR.0b013e3180a03232. Pediatr Res. 2007. PMID: 17597650 Free PMC article.

9

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Garmany TH, et al. Among authors: cole fs. Pediatr Res. 2008 Jun;63(6):645-9. doi: 10.1203/PDR.0b013e31816fdbeb. Pediatr Res. 2008. PMID: 18317237 Free PMC article.

10

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.

McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A. McBee AD, et al. Among authors: cole fs. Pediatr Pulmonol. 2008 May;43(5):443-50. doi: 10.1002/ppul.20782. Pediatr Pulmonol. 2008. PMID: 18383112 Free PMC article.

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