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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 4 |
2009 | 1 |
2010 | 2 |
2024 | 0 |
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7 results
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Page 1
The H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closing.
Cell Physiol Biochem. 2010;25(2-3):169-80. doi: 10.1159/000276549. Epub 2010 Jan 12.
Cell Physiol Biochem. 2010.
PMID: 20110677
Free PMC article.
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C.
Quemener S, et al.
Hum Mutat. 2010 Apr;31(4):421-8. doi: 10.1002/humu.21196.
Hum Mutat. 2010.
PMID: 20052766
Free PMC article.
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A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis.
Blackman SM, Hsu S, Ritter SE, Naughton KM, Wright FA, Drumm ML, Knowles MR, Cutting GR.
Blackman SM, et al.
Diabetologia. 2009 Sep;52(9):1858-65. doi: 10.1007/s00125-009-1436-2. Epub 2009 Jul 8.
Diabetologia. 2009.
PMID: 19585101
Free PMC article.
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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, Cutting GR.
Moskowitz SM, et al.
Genet Med. 2008 Dec;10(12):851-68. doi: 10.1097/GIM.0b013e31818e55a2.
Genet Med. 2008.
PMID: 19092437
Free PMC article.
Review.
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GENETICS. The Human Variome Project.
Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M.
Cotton RG, et al.
Science. 2008 Nov 7;322(5903):861-2. doi: 10.1126/science.1167363.
Science. 2008.
PMID: 18988827
Free PMC article.
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Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd; Cystic Fibrosis Foundation.
Farrell PM, et al.
J Pediatr. 2008 Aug;153(2):S4-S14. doi: 10.1016/j.jpeds.2008.05.005.
J Pediatr. 2008.
PMID: 18639722
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.
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