-
1
-
-
0000026508
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds), 7th edn, McGraw Hill, New York
-
Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds), The Metabolic and Molecular Bases of Inherited Disease, 7th edn, McGraw Hill, New York, 1995; 3799-876.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.C.2
Boat, T.F.3
Beaudet, A.L.4
-
3
-
-
0034012303
-
Identification of novel mutatons in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab population
-
Kambouris M, Banjar H, Mogarri I, Nazer H, Al-Hamed M, Meyer BF. Identification of novel mutatons in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab population. Eur J Pediatr 2000; 159: 303-9.
-
(2000)
Eur. J. Pediatr.
, vol.159
, pp. 303-309
-
-
Kambouris, M.1
Banjar, H.2
Mogarri, I.3
Nazer, H.4
Al-Hamed, M.5
Meyer, B.F.6
-
4
-
-
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
-
Kambouris M, Jacson CE, Feldman GL. 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 1996; 8: 64-70.
-
(1996)
Hum. Mutat.
, vol.8
, pp. 64-70
-
-
Kambouris, M.1
Jacson, C.E.2
Feldman, G.L.3
-
5
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem BS, Rommens JM, Buchman JA, et al. Identification of the cystic fibrosis gene: Genetic analysis. Science 1989; 245: 1073-80.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.S.1
Rommens, J.M.2
Buchman, J.A.3
-
6
-
-
0025134810
-
Gradient in Europe of the major CF mutation and of its associated haplotype
-
European Working Group of CF genetics
-
European Working Group of CF genetics. Gradient in Europe of the major CF mutation and of its associated haplotype. Hum Genet 1990; 85: 436-45.
-
(1990)
Hum. Genet.
, vol.85
, pp. 436-445
-
-
-
7
-
-
0002382384
-
The epidemiology of cystic fibrosis
-
Hodson ME, Geddes DM (eds), Chapman and Hall, London
-
Lewis A. The epidemiology of cystic fibrosis. In: Hodson ME, Geddes DM (eds), Cystic Fibrosis. Chapman and Hall, London, 1995; 2-4.
-
(1995)
Cystic Fibrosis
, pp. 2-4
-
-
Lewis, A.1
-
8
-
-
0024548558
-
Cystic fibrosis in Saudi Arabia
-
Nazer H, Riff E, Sakati N, Mathew R, Majeed MA, Harfi H. Cystic fibrosis in Saudi Arabia. Eur J Pediatr 1989; 148: 330-33.
-
(1989)
Eur. J. Pediatr.
, vol.148
, pp. 330-333
-
-
Nazer, H.1
Riff, E.2
Sakati, N.3
Mathew, R.4
Majeed, M.A.5
Harfi, H.6
-
9
-
-
0035038773
-
Heterogeneity of the cystic fibrosis phenotype in large kindred family in Qatar with cystic fibrosis mutation (11234V)
-
Abdul Wahab A, Dawod ST, Al Thani G, Kambouris M. Al Hamed M. Heterogeneity of the cystic fibrosis phenotype in large kindred family in Qatar with cystic fibrosis mutation (11234V). J Trop Pedatr 2001; 47: 110-12.
-
(2001)
J. Trop. Pedatr.
, vol.47
, pp. 110-112
-
-
Abdul Wahab, A.1
Dawod, S.T.2
Al Thani, G.3
Kambouris, M.4
Al Hamed, M.5
-
10
-
-
0033023740
-
Genotype-phenotype correlations in cystic fibrosis: Clinical severity of mutations S549R (T>G)
-
Frossard PM, Hericant J, Bossaert Y, Dawson KP. Genotype-phenotype correlations in cystic fibrosis: Clinical severity of mutations S549R (T>G). Eur Repir J 1999; 13: 100-2.
-
(1999)
Eur. Repir. J.
, vol.13
, pp. 100-102
-
-
Frossard, P.M.1
Hericant, J.2
Bossaert, Y.3
Dawson, K.P.4
-
11
-
-
0034111384
-
Identification of cystic fibrosis mutation in Oman
-
Frossard PM, Dawson KP, Das SJ, Alexander PC, Girodon E, Goossens M. Identification of cystic fibrosis mutation in Oman. Clin Genet 2000; 57: 235-36.
-
(2000)
Clin. Genet.
, vol.57
, pp. 235-236
-
-
Frossard, P.M.1
Dawson, K.P.2
Das, S.J.3
Alexander, P.C.4
Girodon, E.5
Goossens, M.6
-
12
-
-
0025175667
-
ΔF508 testing of the DNA bank of the Royal Manchester Children's Hospital
-
Schwarz MJ, Super M, Wallis C, et al. ΔF508 testing of the DNA bank of the Royal Manchester Children's Hospital. Hum Genet 1990; 85: 428-30.
-
(1990)
Hum. Genet.
, vol.85
, pp. 428-430
-
-
Schwarz, M.J.1
Super, M.2
Wallis, C.3
-
13
-
-
0031907747
-
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis. Y569D, Q98X, 296+12 (T>C), 1161delC and 621+2 (T>C)
-
Malone G, Haworth A, Schwartz MJ, Cuppens H, Super M. Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis. Y569D, Q98X, 296+12 (T>C), 1161delC and 621+2 (T>C). Hum Mutat 1998; 11: 152-57.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 152-157
-
-
Malone, G.1
Haworth, A.2
Schwartz, M.J.3
Cuppens, H.4
Super, M.5
-
15
-
-
0027402186
-
Four novel cystic fibrosis in splice junction sequence affecting the CFTR nucleotide binding folds
-
Dork T, Wulbrand U, Tummler B. Four novel cystic fibrosis in splice junction sequence affecting the CFTR nucleotide binding folds. Genomics 1993; 15: 688-69.
-
(1993)
Genomics
, vol.15
, pp. 688-769
-
-
Dork, T.1
Wulbrand, U.2
Tummler, B.3
|