| 1 | CBAVD, CFTR
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| Analysis of cystic fibrosis transmembrane regulator and azoospermia factor polymorphisms in infertile men in relation to other abnormalities.
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| Lobna HL, Ali B, Hammadi A.
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| Andrologia 44 Suppl 1:848-50. doi: 10.1111/j.1439-0272.2011.01250.x. Epub 2011 Dec 22.
2012
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| 2 | CFTR, CF, CBAVD
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| Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
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| Ferec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguenes O, Cooper DN, Audrezet MP, Chen JM.
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| Eur J Hum Genet 14(5):567-76. 2006
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| 3 | CFTR, CF, CBAVD
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| Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
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| Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR.
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| Am J Hum Genet 74(1):176-9. Epub 2003 Dec 18. 2004
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| 4 | CFTR, CF, CBAVD
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| Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
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| Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW.
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| Genet Med 6(5):387-91. No abstract available. Erratum in: Genet Med. 2004 Nov-Dec;6(6):548. Genet Med. 2005 Apr;7(4):286. 2004
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| 5 | CF, CBAVD
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| Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
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| Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.
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| N Engl J Med 347(6):401-7. 2002
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| 6 | CFTR, CF, CBAVD
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| Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
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| Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG.
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| Genet Med 3(2):149-54. No abstract available. 2001
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| 7 | CFTR, CF, CBAVD
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| Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
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| Mickle JE, Milewski MI, Macek M Jr, Cutting GR.
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| Am J Hum Genet 66(5):1485-95. 2000
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| 8 | CBAVD, CFTR, CF
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| Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
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| Larriba S, et al.
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| Hum Mol Genet 7 : 1739-1744. 1998
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| 9 | CBAVD, CFTR,CF
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| Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
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| Zielenski J, et al.
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| Hum Mutat 9 : 183-184. 1997
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| 10 | CBAVD, CFTR, CF
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| Molecular diagnosis of congenital bilateral absence of the vas deferens : analyses of the CFTR gene in 64 French patients.
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| Bienvenu T, Adjiman M, Thiounn N, Jeanpierre M, Hubert D, Lepercoq J, Francoual C, Wolf J, Izard V, Jouannet P, Kaplan JC, Beldjord C.
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| Ann Genet 40(1):5-9. 1997
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| 11 | CBAVD, CFTR, CF
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| Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR) : correlation between genotype and phenotype.
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| Dumur V, et al.
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| Hum Genet 97 : 7-10. 1996
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| 12 | CBAVD, CFTR, CF
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| Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
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| Chillon M, et al.
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| N Engl J Med 332 : 1475-1480. 1995
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| 13 | CBAVD
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| Extensive analysis of 40 infertile patients with congenital absence of the vas deferens : in 50% of cases only one CFTR allele could be detected.
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| Casals T, et al.
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| Hum Genet 95 : 205-211. 1995
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| 14 | CFTR, CBAVD, CF
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| Is congenital bilateral absence of vas deferens a primary form of cysticfibrosis? Analyses of the CFTR gene in 67 patients.
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| Mercier B, et al.
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| Am J Hum Genet 56 : 272-277. 1995
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| 15 | CBAVD
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| Congenital bilateral absence of the vas deferens : 2 primary genital form of cystic fibrosis.
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| Anguiano A, et al.
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| JAMA 267 : 1794-1797. 1992
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