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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, Zemková 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. Bartlett JR, et al. JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295. JAMA. 2009. PMID: 19738092 Free PMC article.
Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State.
Kier C, Kay DM, Langfelder-Schwind E, Goetz DM, Berdella M, DeCelie-Germana JK, Soultan ZN, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Sadeghi H. Kier C, et al. Among authors: langfelder schwind e. Pediatr Pulmonol. 2024 May;59(5):1511-1513. doi: 10.1002/ppul.26928. Epub 2024 Mar 1. Pediatr Pulmonol. 2024. PMID: 38426813 No abstract available.
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM, Sadeghi H, Kier C, Berdella M, DeCelie-Germana JK, Soultan ZN, Goetz DM, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Stevens C, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Langfelder-Schwind E. Kay DM, et al. Among authors: langfelder schwind e. Pediatr Pulmonol. 2024 Jul;59(7):1952-1961. doi: 10.1002/ppul.27023. Epub 2024 May 2. Pediatr Pulmonol. 2024. PMID: 38695616
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC. Zielenski J, et al. Nat Genet. 1999 Jun;22(2):128-9. doi: 10.1038/9635. Nat Genet. 1999. PMID: 10369249 No abstract available.
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Green DM, Lahiri T, Raraigh KS, Ruiz F, Spano J, Antos N, Bonitz L, Christon L, Gregoire-Bottex M, Hale JE, Langfelder-Schwind E, La Parra Perez Á, Maguiness K, Massie J, McElroy-Barker E, McGarry ME, Mercier A, Munck A, Oliver KE, Self S, Singh K, Smiley M, Snodgrass S, Tluczek A, Tuley P, Lomas P, Wong E, Hempstead SE, Faro A, Ren CL. Green DM, et al. Among authors: langfelder schwind e. Pediatrics. 2024 May 1;153(5):e2023064657. doi: 10.1542/peds.2023-064657. Pediatrics. 2024. PMID: 38577740
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