메뉴 건너뛰기




Volumn 21, Issue 1, 2011, Pages 51-57

Detecting common CFTR mutations by reverse dot blot hybridization method in cystic fibrosis first report from Northern Iran

Author keywords

CFTR; Children; Cystic fibrosis; DeltaF508 CFTR; Genotype; Iran

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 79952938712     PISSN: 10184406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (36)
  • 1
    • 0141615605 scopus 로고    scopus 로고
    • The phenotype consequences of CFTR mutations
    • Rowntree RK, Harris A. The phenotype consequences of CFTR mutations. Ann Hum Genet 2003; 67(Pt 5):471-85.
    • (2003) Ann Hum Genet , vol.67 , Issue.Pt 5 , pp. 471-485
    • Rowntree, R.K.1    Harris, A.2
  • 3
    • 0034565196 scopus 로고    scopus 로고
    • Improving the health of patients with cystic fibrosis through newborn screening
    • Farrell P. Improving the health of patients with cystic fibrosis through newborn screening. Adv Pediatr 2000; 49:79-115.
    • (2000) Adv. Pediatr , vol.49 , pp. 79-115
    • Farrell, P.1
  • 4
    • 0033945057 scopus 로고    scopus 로고
    • The geographic distribution of cystic fibrosis mutations gives clues about population origins
    • Dawson K, Frossard P. The geographic distribution of cystic fibrosis mutations gives clues about population origins. Eur J Pediatr 2000; 159(7):496-499.
    • (2000) Eur J Pediatr , vol.159 , Issue.7 , pp. 496-499
    • Dawson, K.1    Frossard, P.2
  • 5
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium
    • Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997; 10(2):135-54.
    • (1997) Hum Mutat , vol.10 , Issue.2 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 6
    • 0036138110 scopus 로고    scopus 로고
    • Can a place of origin of the main cystic fibrosis mutations be identified?
    • Mateu E. Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet 2002; 70(1):257-64.
    • (2002) Am J Hum Genet , vol.70 , Issue.1 , pp. 257-264
    • Mateu, E.1
  • 7
    • 10944240570 scopus 로고    scopus 로고
    • First study of CF mutations in the CFTR gene of Iranian patients: Detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations
    • Jalalirad M, Houshmand M, Mirfakhraie R, et al. First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. J Trop Pediatr 2004; 50(6):359-361.
    • (2004) J Trop Pediatr , vol.50 , Issue.6 , pp. 359-361
    • Jalalirad, M.1    Houshmand, M.2    Mirfakhraie, R.3
  • 8
    • 32944478901 scopus 로고    scopus 로고
    • A haplotype framework for cystic fibrosis mutations in Iran
    • Elahi E, Khodadad A, Kupershmidt I, et al. A haplotype framework for cystic fibrosis mutations in Iran. J Mol Diagnostics 2006; 8(1): 119-27.
    • (2006) J Mol Diagnostics , vol.8 , Issue.1 , pp. 119-127
    • Elahi, E.1    Khodadad, A.2    Kupershmidt, I.3
  • 9
    • 40749095333 scopus 로고    scopus 로고
    • Analysis of the CFTR gene in Iranian cystic fibrosis patients. Identification of eight novel mutations
    • Alibakhshi R, Kianishirazi R, Cassiman JJ, et al. Analysis of the CFTR gene in Iranian cystic fibrosis patients. Identification of eight novel mutations. J Cyst Fibros 2008; 7(2):102-9.
    • (2008) J Cyst Fibros , vol.7 , Issue.2 , pp. 102-109
    • Alibakhshi, R.1    Kianishirazi, R.2    Cassiman, J.J.3
  • 10
    • 28244466938 scopus 로고    scopus 로고
    • Technology platforms for molecular diagnosis of cystic fibrosis
    • Eshaque B, Dixon B. Technology platforms for molecular diagnosis of cystic fibrosis. Biotechnol Adv 2006; 24(1):86-93.
    • (2006) Biotechnol Adv , vol.24 , Issue.1 , pp. 86-93
    • Eshaque, B.1    Dixon, B.2
  • 11
    • 73449117143 scopus 로고    scopus 로고
    • A 10-year large-scale cystic fibrosis carrier screening in the Italian population
    • Picci L, Cameran M, Marangon O, et al. A 10-year large-scale cystic fibrosis carrier screening in the Italian population. J Cyst Fibros 2010; 9(1):29-35.
    • (2010) J Cyst Fibros , vol.9 , Issue.1 , pp. 29-35
    • Picci, L.1    Cameran, M.2    Marangon, O.3
  • 12
    • 3342953579 scopus 로고    scopus 로고
    • Survey of CF mutations in the clinical laboratory
    • Huber K, Mirkovic B, Nersesian R, et al. Survey of CF mutations in the clinical laboratory. BMC Clin Pathol 2002; 2(1):4-11.
    • (2002) BMC Clin Pathol , vol.2 , Issue.1 , pp. 4-11
    • Huber, K.1    Mirkovic, B.2    Nersesian, R.3
  • 13
    • 57649232744 scopus 로고    scopus 로고
    • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations
    • Dequeker E, Stuhrmann M, Morris MA, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Eur J Hum Genet 2009; 17(1):51-65.
    • (2009) Eur J Hum Genet , vol.17 , Issue.1 , pp. 51-65
    • Dequeker, E.1    Stuhrmann, M.2    Morris, M.A.3
  • 14
    • 23644445832 scopus 로고    scopus 로고
    • Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
    • Stuppia L, Antonucci I, Binni F, et al. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. Eur J Hum Genet 2005; 13(8):959-64.
    • (2005) Eur J Hum Genet , vol.13 , Issue.8 , pp. 959-964
    • Stuppia, L.1    Antonucci, I.2    Binni, F.3
  • 15
    • 0037214955 scopus 로고    scopus 로고
    • Molecular Diagnosis of Cystic Fibrosis. Comparison of four analytical procedures
    • Tomaiuolo R, Spina M, Castaldo G. Molecular Diagnosis of Cystic Fibrosis. Comparison of four analytical procedures. Clin Chem Lab Med 2003; 41(1):26-32.
    • (2003) Clin Chem Lab Med , vol.41 , Issue.1 , pp. 26-32
    • Tomaiuolo, R.1    Spina, M.2    Castaldo, G.3
  • 16
    • 0035184634 scopus 로고    scopus 로고
    • Robot printing of reverse dot blot arrays for human mutation detection
    • Lappin S, Cahlik J, Gold B. Robot printing of reverse dot blot arrays for human mutation detection. J Mol.Diagn 2001; 3(4):178-88.
    • (2001) J Mol.Diagn , vol.3 , Issue.4 , pp. 178-188
    • Lappin, S.1    Cahlik, J.2    Gold, B.3
  • 17
    • 77950967101 scopus 로고    scopus 로고
    • Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria
    • Bonyadi M, Omrani O, Moghanjoghi SM, et al. Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. Genet Test Mol Biomarkers 2010; 14(2):233-5.
    • (2010) Genet Test Mol Biomarkers , vol.14 , Issue.2 , pp. 233-235
    • Bonyadi, M.1    Omrani, O.2    Moghanjoghi, S.M.3
  • 18
    • 34247132166 scopus 로고    scopus 로고
    • Thalassemia in Iran. Epidemiology, prevention, and management
    • Abolghasemi H, Amid A, Zeinali S, et al. Thalassemia in Iran. Epidemiology, prevention, and management. J Pediatr Hematol Oncol 2007; 29(4):233-8.
    • (2007) J Pediatr Hematol Oncol , vol.29 , Issue.4 , pp. 233-238
    • Abolghasemi, H.1    Amid, A.2    Zeinali, S.3
  • 19
    • 34547187703 scopus 로고    scopus 로고
    • Distribution of betathalassemia mutations in the northern provinces of Iran
    • Derakhshandeh-Peykar P, Akhavan-Niaki H, Tamaddoni A, et al. Distribution of betathalassemia mutations in the northern provinces of Iran. Hemoglobin 2007; 31(3):351-6.
    • (2007) Hemoglobin , vol.31 , Issue.3 , pp. 351-356
    • Derakhshandeh-Peykar, P.1    Akhavan-Niaki, H.2    Tamaddoni, A.3
  • 20
    • 38049021626 scopus 로고    scopus 로고
    • CFTR mutations in the Algerian population
    • Loumi O, Ferec C, Mercier B, et al. CFTR mutations in the Algerian population. J Cyst Fibros 2008; 7(1):54-9.
    • (2008) J Cyst Fibros , vol.7 , Issue.1 , pp. 54-59
    • Loumi, O.1    Ferec, C.2    Mercier, B.3
  • 21
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis, a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, Farrel PM. Cystic fibrosis, a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002; 19(6):575-606.
    • (2002) Hum Mutat , vol.19 , Issue.6 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrel, P.M.4
  • 22
    • 0038412795 scopus 로고    scopus 로고
    • Spatial patterns of cystic fibrosis mutation spectra in European populations
    • Lao O, Andrés AM, Mateu E, et al. Spatial patterns of cystic fibrosis mutation spectra in European populations. Eur J Hum Genet 2003; 11(5):385-94.
    • (2003) Eur J Hum Genet , vol.11 , Issue.5 , pp. 385-394
    • Lao, O.1    Andrés, A.M.2    Mateu, E.3
  • 23
    • 0029025722 scopus 로고
    • Study of 12 mutations in Turkish cystic fibrosis patients
    • Yilmaz E, Erdem H, Ozgüç M, et al. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered 1995; 45(3):175-7.
    • (1995) Hum Hered , vol.45 , Issue.3 , pp. 175-177
    • Yilmaz, E.1    Erdem, H.2    Ozgüç, M.3
  • 24
    • 58149305457 scopus 로고    scopus 로고
    • Identification and characterization of CFTR gene mutations in Indian CF patients
    • Sharma N, Singh M, Kaur G, et al. Identification and characterization of CFTR gene mutations in Indian CF patients. Ann Hum Genet 2009; 73(1): 26-33.
    • (2009) Ann Hum Genet , vol.73 , Issue.1 , pp. 26-33
    • Sharma, N.1    Singh, M.2    Kaur, G.3
  • 25
    • 0025047399 scopus 로고
    • Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients
    • Hundrieser J, Bremer S, Peinemann F, et al. Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients. Hum Genet 1990; 85(4):409-10.
    • (1990) Hum Genet , vol.85 , Issue.4 , pp. 409-410
    • Hundrieser, J.1    Bremer, S.2    Peinemann, F.3
  • 26
    • 0042309919 scopus 로고    scopus 로고
    • Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis
    • Kabra SK, Kabra M, Lodha R, et al. Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis. Indian Pediatr 2003; 40(7):612-9.
    • (2003) Indian Pediatr , vol.40 , Issue.7 , pp. 612-619
    • Kabra, S.K.1    Kabra, M.2    Lodha, R.3
  • 27
    • 0033012851 scopus 로고    scopus 로고
    • Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia
    • Banjar H, Kambouris M, Meyer BF, et al. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Paediatr 1999; 19(1):69-73.
    • (1999) Ann Trop Paediatr , vol.19 , Issue.1 , pp. 69-73
    • Banjar, H.1    Kambouris, M.2    Meyer, B.F.3
  • 28
    • 0033232142 scopus 로고    scopus 로고
    • Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia
    • Banjar H. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. East Mediter Health J 1999; 5(6):1230-5.
    • (1999) East Mediter Health J , vol.5 , Issue.6 , pp. 1230-1235
    • Banjar, H.1
  • 29
    • 18344406691 scopus 로고    scopus 로고
    • Highest heterogeneity for cystic fibrosis. 36 mutations account for 75% of all CF chromosomes in Turkish patients
    • Kilinç M, Ninis V, Dagli E, et al. Highest heterogeneity for cystic fibrosis. 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Hum Genet 2002; 113(3): 250-7.
    • (2002) Am J Hum Genet , vol.113 , Issue.3 , pp. 250-257
    • Kilinç, M.1    Ninis, V.2    Dagli, E.3
  • 30
    • 65649140434 scopus 로고    scopus 로고
    • Cystic fibrosis. defining a disease under-diagnosed in Pakistan
    • Shah U, Frossard P, Moatter T. Cystic fibrosis. defining a disease under-diagnosed in Pakistan. Trop Med Int Health 2009; 14(5):542-5.
    • (2009) Trop Med Int Health , vol.14 , Issue.5 , pp. 542-545
    • Shah, U.1    Frossard, P.2    Moatter, T.3
  • 31
    • 0031172085 scopus 로고    scopus 로고
    • G542X as a probable Phoenician cystic fibrosis mutation
    • Loirat F, Hazout S, Lucotte G. G542X as a probable Phoenician cystic fibrosis mutation. Hum Biol 1997; 69(3):419-25.
    • (1997) Hum Biol , vol.69 , Issue.3 , pp. 419-425
    • Loirat, F.1    Hazout, S.2    Lucotte, G.3
  • 32
    • 0346678536 scopus 로고    scopus 로고
    • Correlation between phenotype and genotype in a group of patients with cystic fibrosis
    • Navarro H, Kolbach M, Repetto G, et al. Correlation between phenotype and genotype in a group of patients with cystic fibrosis. Rev Med Chil 2002; 130(5):475-81.
    • (2002) Rev Med Chil , vol.130 , Issue.5 , pp. 475-481
    • Navarro, H.1    Kolbach, M.2    Repetto, G.3
  • 33
    • 0033508542 scopus 로고    scopus 로고
    • Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry
    • Feingold J, Guilloud-Bataille M. Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry. Ann Genet 1999; 42(3): 147-50.
    • (1999) Ann Genet , vol.42 , Issue.3 , pp. 147-150
    • Feingold, J.1    Guilloud-Bataille, M.2
  • 34
    • 33845923990 scopus 로고    scopus 로고
    • Liver manifestations of cystic fibrosis
    • Akata D, Akhan O. Liver manifestations of cystic fibrosis. Eur J Radiol 2007; 61(1):11-7.
    • (2007) Eur J Radiol , vol.61 , Issue.1 , pp. 11-17
    • Akata, D.1    Akhan, O.2
  • 35
    • 70349521985 scopus 로고    scopus 로고
    • Clinical and molecular characterization of S1118F-CFTR
    • Penmatsa H, Frederick CA, Nekkalapu S, et al. Clinical and molecular characterization of S1118F-CFTR. Pediatr Pulmonol 2009; 44(10): 1003-9.
    • (2009) Pediatr Pulmonol , vol.44 , Issue.10 , pp. 1003-1009
    • Penmatsa, H.1    Frederick, C.A.2    Nekkalapu, S.3
  • 36
    • 0031958696 scopus 로고    scopus 로고
    • Screening of CFTR mutations in an isolated population. Identification of carriers and patients
    • Chiba-Falek O, Nissim-Rafinia M, Argaman Z, et al. Screening of CFTR mutations in an isolated population. Identification of carriers and patients. Eur J Hum Genet 1998; 6(2):181-4.
    • (1998) Eur J Hum Genet , vol.6 , Issue.2 , pp. 181-184
    • Chiba-Falek, O.1    Nissim-Rafinia, M.2    Argaman, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.