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Publications
Selected Publications
1. Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS. Developmental and Genetic Regulation of Surfactant Protein-B In Vivo. Neonatology. 2008 Sep;95(2):117-24. PMID: 18776725 pubmed
2. 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. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008 Jun;63(6):645-9. PMID: 18317237 pubmed
3. McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee. Recombination as a Mechanism for Sporadic Mutation in the Surfactant Protein-C Gene. Pediatr Pulmonol. 2008 May;43(5):443-50. PMID: 18383112 pubmed
4. Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res. 2007 Aug;62(2):170-5. PMID: 17597650 pubmed
5. Hamvas A, Cole FS, Nogee LM. Genetic disorders of surfactant proteins. Neonatology. 2007;91(4):311-7. PMID: 17575475 pubmed
6. Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, Reinholt F, Hamvas A, Coles FS, Dean M, Wert SE, Whitsett JA, Nogee LM. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr. 2007 Feb;96(2):185-90. PMID: 17429902 pubmed
7. Wegner DJ, Hertzberg T, Heins HB, Elmberger G, MacCoss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A. A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr. 2007 Apr;96(4):516-20. PMID: 17391469 pubmed
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