-
1
-
-
0141615605
-
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
-
2
-
-
0001752544
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D, (eds), 8th ed. New York: McGraw-Hill
-
Welsh MJ, Ramsey BW, Accurso F, Cutting G. Cystic fibrosis. In. Scriver CR, Beaudet AL, Sly WS, Valle D, (eds). The Metabolic and Molecular Basis of Inherited Diseases. 8th ed. New York: McGraw-Hill. 2001; Pp: 5121-88.
-
(2001)
The Metabolic and Molecular Basis of Inherited Diseases
, pp. 5121-5188
-
-
Welsh, M.J.1
Ramsey, B.W.2
Accurso, F.3
Cutting, G.4
-
3
-
-
0034565196
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|