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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1995 | 1 |
2001 | 1 |
2008 | 1 |
2013 | 1 |
2024 | 0 |
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A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
J Pediatr. 1995 Aug;127(2):281-3. doi: 10.1016/s0022-3476(95)70310-1.
J Pediatr. 1995.
PMID: 7543567
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.
Sosnay PR, et al.
Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.
Nat Genet. 2013.
PMID: 23974870
Free PMC article.
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS.
Castellani C, et al.
J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009.
J Cyst Fibros. 2008.
PMID: 18456578
Free PMC article.
Review.
Item in Clipboard
European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.
Koch C, Cuppens H, Rainisio M, Madessani U, Harms H, Hodson M, Mastella G, Navarro J, Strandvik B, McKenzie S; Investigators of the ERCF.
Koch C, et al.
Pediatr Pulmonol. 2001 Jan;31(1):1-12. doi: 10.1002/1099-0496(200101)31:1<1::aid-ppul1000>3.0.co;2-t.
Pediatr Pulmonol. 2001.
PMID: 11180668
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