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Items: 3

1.

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ; New York State Cystic Fibrosis Newborn Screening Consortium, van Roey P, Caggana M, Kay DM.

Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2.

PMID:
26538069
2.

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.

Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C; New York State Cystic Fibrosis Newborn Screening Consortium.

Pediatr Pulmonol. 2015 Aug;50(8):771-80. doi: 10.1002/ppul.23222. Epub 2015 Jun 22.

PMID:
26098992
3.

Genetic modifiers of liver disease in cystic fibrosis.

Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, Zemkov√° D, Hannah WB, Phillips MJ, Corey M, Zielenski J, Dorfman R, Wang Y, Zou F, Silverman LM, Drumm ML, Wright FA, Lange EM, Durie PR, Knowles MR; Gene Modifier Study Group.

JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295.

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