-
1
-
-
0026699908
-
Screening for five mutations detects 97% of cystic fibrosis [CF] chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
-
1. Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR (1992) Screening for five mutations detects 97% of cystic fibrosis [CF] chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 51:951-956
-
(1992)
Am J Hum Genet
, vol.51
, pp. 951-956
-
-
Abeliovich, D.1
Lavon, I.P.2
Lerer, I.3
Cohen, T.4
Springer, C.5
Avital, A.6
Cutting, G.R.7
-
2
-
-
0024426629
-
The contrasting structures of mismatched DNA sequences containing looped-out bases [bulges] and multiple mismatches [bubbles]
-
2. Bhattacharya A, Lilley DM (1989) The contrasting structures of mismatched DNA sequences containing looped-out bases [bulges] and multiple mismatches [bubbles]. Nucleic Acids Res 17:6821-6840
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 6821-6840
-
-
Bhattacharya, A.1
Lilley, D.M.2
-
3
-
-
0027031899
-
Screening for cystic fibrosis mutations in southern France: Identification of a frameshift mutation and two missense variations
-
3. Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M (1992) Screening for cystic fibrosis mutations in southern France: Identification of a frameshift mutation and two missense variations. Hum Mutat 1:310-313
-
(1992)
Hum Mutat
, vol.1
, pp. 310-313
-
-
Claustres, M.1
Gerrard, B.2
Kjellberg, P.3
Desgeorges, M.4
Demaille, J.5
Dean, M.6
-
4
-
-
0027518279
-
Current methods of mutation detection
-
4. Cotton RGH (1993) Current methods of mutation detection. Mutat Res 285:125-144
-
(1993)
Mutat Res
, vol.285
, pp. 125-144
-
-
Cotton, R.G.H.1
-
5
-
-
0000412801
-
Cystic fibrosis
-
Rimoin DL, Connor JM, Pyeritz RE (eds) Churchill-Livingston London
-
5. Cutting GR (1997) Cystic fibrosis. In: Rimoin DL, Connor JM, Pyeritz RE (eds) Emery and Rimoin's principles and practice of medical genetics. Churchill-Livingston London, pp 2685-2717
-
(1997)
Emery and Rimoin's Principles and Practice of Medical Genetics
, pp. 2685-2717
-
-
Cutting, G.R.1
-
6
-
-
0026629124
-
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians
-
6. Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C (1992) Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 50:1185-1194
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1185-1194
-
-
Cutting, G.R.1
Curristin, S.M.2
Nash, E.3
Rosenstein, B.J.4
Lerer, I.5
Abeliovich, D.6
Hill, A.7
Graham, C.8
-
7
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
7. Cystic fibrosis analysis consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177
-
(1994)
Hum Mutat
, vol.4
, pp. 167-177
-
-
-
8
-
-
0030751576
-
Childhood chronic lung disease in the United Arab Emirates
-
8. Dawson KP, Bakalinova D (1997) Childhood chronic lung disease in the United Arab Emirates. Trop Doct 27:151-153
-
(1997)
Trop Doct
, vol.27
, pp. 151-153
-
-
Dawson, K.P.1
Bakalinova, D.2
-
9
-
-
0029029001
-
Cystic fibrosis in the United Arab Emirates: An under-recognized condition?
-
9. Dawson KP, Frossard PM (1995) Cystic fibrosis in the United Arab Emirates: an under-recognized condition? Trop Doct 25:110-111
-
(1995)
Trop Doct
, vol.25
, pp. 110-111
-
-
Dawson, K.P.1
Frossard, P.M.2
-
10
-
-
1842407140
-
Cystic fibrosis in Lebanon: Distribution of CFTR mutations among Arab communities
-
10. Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M (1997) Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Hum Genet 100:279-283
-
(1997)
Hum Genet
, vol.100
, pp. 279-283
-
-
Desgeorges, M.1
Megarbane, A.2
Guittard, C.3
Carles, S.4
Loiselet, J.5
Demaille, J.6
Claustres, M.7
-
11
-
-
0030830668
-
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis
-
11. El-Harith EA, Dork T, Stuhrmann M, Abu-Srair H, Al-Shahri A, Keller KM, Lentze MJ, Schmidtke J (1997) Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet 34:996-999
-
(1997)
J Med Genet
, vol.34
, pp. 996-999
-
-
El-Harith, E.A.1
Dork, T.2
Stuhrmann, M.3
Abu-Srair, H.4
Al-Shahri, A.5
Keller, K.M.6
Lentze, M.J.7
Schmidtke, J.8
-
12
-
-
0001460374
-
Cystic fibrosis in the United Arab Emirates: II - Molecular genetic analysis
-
12. Frossard PM, John A, Dawson K (1994) Cystic fibrosis in the United Arab Emirates: II - molecular genetic analysis. Emirates Med J 12:249-254
-
(1994)
Emirates Med J
, vol.12
, pp. 249-254
-
-
Frossard, P.M.1
John, A.2
Dawson, K.3
-
13
-
-
0026322140
-
Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
-
13. Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Cutting RG, Cutting GR (1991) Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 88:1880-1885
-
(1991)
J Clin Invest
, vol.88
, pp. 1880-1885
-
-
Hamosh, A.1
Trapnell, B.C.2
Zeitlin, P.L.3
Montrose-Rafizadeh, C.4
Rosenstein, B.J.5
Cutting, R.G.6
Cutting, G.R.7
-
14
-
-
0029896244
-
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid carcinoma [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations
-
14. Kambouris M, Jackson CE, Feldman GL (1996) Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid carcinoma [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. Hum Mutat 8:64-70
-
(1996)
Hum Mutat
, vol.8
, pp. 64-70
-
-
Kambouris, M.1
Jackson, C.E.2
Feldman, G.L.3
-
15
-
-
0006653204
-
Identification of two novel CFTR exonic deletions [425del42 & 1549delG] in cystic fibrosis [CF] patients by mutation detection enhancement [MDE] heteroduplex analyses. Possible founder effect associated with the 1540A → G polymorphism
-
15. Kambouris M, Meyer BF, Banjar H, Al-Hamed MH, Moggari I, Ozand PT (1996) Identification of two novel CFTR exonic deletions [425del42 & 1549delG] in cystic fibrosis [CF] patients by mutation detection enhancement [MDE] heteroduplex analyses. Possible founder effect associated with the 1540A → G polymorphism. Am J Hum Genet 59 [Suppl]:A397
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
-
-
Kambouris, M.1
Meyer, B.F.2
Banjar, H.3
Al-Hamed, M.H.4
Moggari, I.5
Ozand, P.T.6
-
16
-
-
0026007392
-
Rapid detection of single base mismatches as heteroduplexes on HydroLink gels
-
16. Keen J, Lester D, Inglehearn C, Curtis A, Bhattacharya S (1991) Rapid detection of single base mismatches as heteroduplexes on HydroLink gels. Trends Genet 7:5
-
(1991)
Trends Genet
, vol.7
, pp. 5
-
-
Keen, J.1
Lester, D.2
Inglehearn, C.3
Curtis, A.4
Bhattacharya, S.5
-
18
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
18. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
19
-
-
16944366526
-
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
-
19. Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR (1997) Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 60:1122-1127
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1122-1127
-
-
Macek M., Jr.1
Mackova, A.2
Hamosh, A.3
Hilman, B.C.4
Selden, R.F.5
Lucotte, G.6
Friedman, K.J.7
Knowles, M.R.8
Rosenstein, B.J.9
Cutting, G.R.10
-
20
-
-
0001702510
-
Resolution of homozygous sequence alterations in the CFTR gene by mutation detection enhancement [MDE] analysis independent of heteroduplex formation reveals a novel mutation [548A → T] that causes cystic fibrosis in homozygous patients
-
20. Meyer BF, Kambouris M (1996) Resolution of homozygous sequence alterations in the CFTR gene by mutation detection enhancement [MDE] Analysis independent of heteroduplex formation reveals a novel mutation [548A → T] that causes cystic fibrosis in homozygous patients. Am J Hum Genet 59 [Suppl]:A399
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
-
-
Meyer, B.F.1
Kambouris, M.2
-
21
-
-
0026779977
-
Multiplex PCR amplifications of three microsatellites within the CFTR gene
-
21. Morral N, Estivill X (1992) Multiplex PCR amplifications of three microsatellites within the CFTR gene. Genomics 13:1362-1364
-
(1992)
Genomics
, vol.13
, pp. 1362-1364
-
-
Morral, N.1
Estivill, X.2
-
22
-
-
0024548558
-
Cystic fibrosis in Saudi Arabia
-
22. Nazer H, Riff E, Sakati N, Mathew R, Majeed-Saidan MA, Harfi H (1989) Cystic fibrosis in Saudi Arabia. Eur J Pediatr 148:330-332
-
(1989)
Eur J Pediatr
, vol.148
, pp. 330-332
-
-
Nazer, H.1
Riff, E.2
Sakati, N.3
Mathew, R.4
Majeed-Saidan, M.A.5
Harfi, H.6
-
23
-
-
0002440928
-
Molecular cloning
-
Nolan C (ed), Cold Spring Harbor Laboratory Press, New York
-
23. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning. A laboratory manual. Nolan C (ed), Cold Spring Harbor Laboratory Press, New York
-
(1989)
A Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
24
-
-
0028920027
-
Missense mutation [G480C] in the CFTR gene associated with protein mislocalization but normal chloride channel activity
-
24. Smit LS, Strong TV, Wilkinson DJ, Macek M Jr, Mansoura MK, Wood DL, Cole JL (1995) Missense mutation [G480C] in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Hum Mol Genet 4:269-273
-
(1995)
Hum Mol Genet
, vol.4
, pp. 269-273
-
-
Smit, L.S.1
Strong, T.V.2
Wilkinson, D.J.3
Macek M., Jr.4
Mansoura, M.K.5
Wood, D.L.6
Cole, J.L.7
-
25
-
-
0000026508
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly, WS, Valle D (eds) McGraw-Hill New York
-
25. Welsh MJ, Tsui L, Boat TF, Beaud et al (1995) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly, WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill New York, pp 3799-3876
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.2
Boat, T.F.3
Beaud4
-
26
-
-
0026549893
-
Detecting single base substitutions as heteroduplex polymorphisms
-
26. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M (1992) Detecting single base substitutions as heteroduplex polymorphisms. Genomics 12:301-306
-
(1992)
Genomics
, vol.12
, pp. 301-306
-
-
White, M.B.1
Carvalho, M.2
Derse, D.3
O'Brien, S.J.4
Dean, M.5
-
27
-
-
0028932916
-
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
-
27. Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Timmler B, Schmidtke J (1995) Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Hum Mutat 5:210-220
-
(1995)
Hum Mutat
, vol.5
, pp. 210-220
-
-
Will, K.1
Dork, T.2
Stuhrmann, M.3
Von Der Hardt, H.4
Ellemunter, H.5
Timmler, B.6
Schmidtke, J.7
-
28
-
-
0025909386
-
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator [CFTR] gene
-
28. Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui L (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator [CFTR] gene. Genomics 10:229-235
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.3
Markiewicz, D.4
Durie, P.5
Rommens, J.M.6
Tsui, L.7
|