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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.
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.
Developmental and genetic regulation of human surfactant protein B in vivo.
Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS. Hamvas A, et al. Among authors: cole fs. Neonatology. 2009;95(2):117-24. doi: 10.1159/000153095. Epub 2008 Sep 6. Neonatology. 2009. PMID: 18776725 Free PMC article.
Genetic disorders of surfactant proteins.
Hamvas A, Cole FS, Nogee LM. Hamvas A, et al. Among authors: cole fs. Neonatology. 2007;91(4):311-7. doi: 10.1159/000101347. Epub 2007 Jun 7. Neonatology. 2007. PMID: 17575475 Review.
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.
Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS. Hamvas A, et al. Among authors: cole fs. J Pediatr. 2009 Dec;155(6):854-859.e1. doi: 10.1016/j.jpeds.2009.06.006. Epub 2009 Aug 3. J Pediatr. 2009. PMID: 19647838 Free PMC article.
235 results