-
1
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.C.8
-
3
-
-
0029003982
-
A cystic fibrosis mutation associated with mild lung disease
-
Gan KH, Veeze HJ, van den Ouweland AM, Halley DJ, Scheffer H, van der Hout A, Overbeek SE, de Jongste JC, Bakker W, Heijerman HG. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995;333:95-99.
-
(1995)
N Engl J Med
, vol.333
, pp. 95-99
-
-
Gan, K.H.1
Veeze, H.J.2
Van Den Ouweland, A.M.3
Halley, D.J.4
Scheffer, H.5
Van Der Hout, A.6
Overbeek, S.E.7
De Jongste, J.C.8
Bakker, W.9
Heijerman, H.G.10
-
4
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Conn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339:653-658.
-
(1998)
N Engl J Med
, vol.339
, pp. 653-658
-
-
Conn, J.A.1
Friedman, K.J.2
Noone, P.G.3
Knowles, M.R.4
Silverman, L.M.5
Jowell, P.S.6
-
5
-
-
0032480253
-
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
-
Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-652.
-
(1998)
N Engl J Med
, vol.339
, pp. 645-652
-
-
Sharer, N.1
Schwarz, M.2
Malone, G.3
Howarth, A.4
Painter, J.5
Super, M.6
Braganza, J.7
-
6
-
-
0037388124
-
Modifier genes in cystic fibrosis lung disease
-
Merlo CA, Boyle MP. Modifier genes in cystic fibrosis lung disease. J Lab Clin Med 2003;141:237-241.
-
(2003)
J Lab Clin Med
, vol.141
, pp. 237-241
-
-
Merlo, C.A.1
Boyle, M.P.2
-
7
-
-
0037157787
-
Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes
-
Salvatore F, Scudiero O, Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002;111:88-95.
-
(2002)
Am J Med Genet
, vol.111
, pp. 88-95
-
-
Salvatore, F.1
Scudiero, O.2
Castaldo, G.3
-
8
-
-
0029616734
-
Cystic fibrosis: Genotypic and phenotypic variations
-
Zielenski J, Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995;29:777-807.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.C.2
-
9
-
-
0033028607
-
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
-
Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999;22:128-129.
-
(1999)
Nat Genet
, vol.22
, pp. 128-129
-
-
Zielenski, J.1
Corey, M.2
Rozmahel, R.3
Markiewicz, D.4
Aznarez, I.5
Casals, T.6
Larriba, S.7
Mercier, B.8
Cutting, G.R.9
Krebsova, A.10
Macek Jr., M.11
Langfelder-Schwind, E.12
Marshall, B.C.13
DeCelie-Germana, J.14
Claustres, M.15
Palacio, A.16
Bal, J.17
Nowakowska, A.18
Ferec, C.19
Estivill, X.20
Durie, P.21
Tsui, L.C.22
more..
-
10
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, Forstner J, Durie P, Nadeau J, Bear C, Tsui LC. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996;12:280-287.
-
(1996)
Nat Genet
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
Plyte, S.4
Oliver, M.5
Auerbach, W.6
Moore, A.7
Forstner, J.8
Durie, P.9
Nadeau, J.10
Bear, C.11
Tsui, L.C.12
-
11
-
-
0031678410
-
Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis
-
Hull J, Thomson AH. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 1998;53:1018-1021.
-
(1998)
Thorax
, vol.53
, pp. 1018-1021
-
-
Hull, J.1
Thomson, A.H.2
-
12
-
-
0032935226
-
HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype
-
Aron Y, Polla BS, Bienvenu T, Dall'ava J, Dusser D, Hubert D. HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype. Am J Respir Crit Care Med 1999;159: 1464-1468.
-
(1999)
Am J Respir Crit Care Med
, vol.159
, pp. 1464-1468
-
-
Aron, Y.1
Polla, B.S.2
Bienvenu, T.3
Dall'Ava, J.4
Dusser, D.5
Hubert, D.6
-
13
-
-
0032695668
-
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
-
Garred P, Pressler T, Madsen HO, Frederiksen B, Svejgaard A, Hoiby N, Schwartz M, Koch C. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999;104:431-437.
-
(1999)
J Clin Invest
, vol.104
, pp. 431-437
-
-
Garred, P.1
Pressler, T.2
Madsen, H.O.3
Frederiksen, B.4
Svejgaard, A.5
Hoiby, N.6
Schwartz, M.7
Koch, C.8
-
14
-
-
0034102868
-
TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis
-
Arkwright PD, Laurie S, Super M, Pravica V, Schwarz MJ, Webb AK, Hutchinson IV. TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 2000;55:459-462.
-
(2000)
Thorax
, vol.55
, pp. 459-462
-
-
Arkwright, P.D.1
Laurie, S.2
Super, M.3
Pravica, V.4
Schwarz, M.J.5
Webb, A.K.6
Hutchinson, I.V.7
-
15
-
-
1242284377
-
Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis
-
Texereau J, Marullo S, Hubert D, Coste J, Dusser DJ, Dall'Ava-Santucci J, Dinh-Xuan AT. Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis. Thorax 2004;59:156-158.
-
(2004)
Thorax
, vol.59
, pp. 156-158
-
-
Texereau, J.1
Marullo, S.2
Hubert, D.3
Coste, J.4
Dusser, D.J.5
Dall'Ava-Santucci, J.6
Dinh-Xuan, A.T.7
-
16
-
-
0036178075
-
Mannose-binding lectin (MBL) therapy in an MBL-deficient patient with severe cystic fibrosis lung disease
-
Garred P, Pressler T, Lanng S, Madsen HO, Moser C, Laursen I, Balstrup F, Koch C, Koch C. Mannose-binding lectin (MBL) therapy in an MBL-deficient patient with severe cystic fibrosis lung disease. Pediatr Pulmonol 2002;33:201-207.
-
(2002)
Pediatr Pulmonol
, vol.33
, pp. 201-207
-
-
Garred, P.1
Pressler, T.2
Lanng, S.3
Madsen, H.O.4
Moser, C.5
Laursen, I.6
Balstrup, F.7
Koch, C.8
Koch, C.9
-
17
-
-
0013852717
-
Guides to the evaluation of permanent impairment. The respiratory system
-
Guides to the evaluation of permanent impairment. The respiratory system. JAMA 1965;194:919-932.
-
(1965)
JAMA
, vol.194
, pp. 919-932
-
-
-
18
-
-
0026038935
-
Lung function testing: Selection of reference values and interpretative strategies
-
American Thoracic Society. Lung function testing: selection of reference values and interpretative strategies. Am Rev Respir Dis 1991;144:1202-1218.
-
(1991)
Am Rev Respir Dis
, vol.144
, pp. 1202-1218
-
-
-
19
-
-
0023970936
-
Evaluation of clinical methods for rating dyspnea
-
Mahler DA, Wells CK. Evaluation of clinical methods for rating dyspnea. Chest 1988;93:580-586.
-
(1988)
Chest
, vol.93
, pp. 580-586
-
-
Mahler, D.A.1
Wells, C.K.2
-
21
-
-
0042283246
-
Long-term study of one hundred five patients with cystic fibrosis: Studies made over a five- to fourteen-year period
-
Shwachman H, Kulczycki LL. Long-term study of one hundred five patients with cystic fibrosis: studies made over a five- to fourteen-year period. Am J Dis Child 1958;96:6-15.
-
(1958)
Am J Dis Child
, vol.96
, pp. 6-15
-
-
Shwachman, H.1
Kulczycki, L.L.2
-
22
-
-
0029045792
-
Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein
-
Madsen HO, Garred P, Thiel S, Kurtzhals JA, Lamm LU, Ryder LP, Svejgaard A. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 1995;155:3013-3020.
-
(1995)
J Immunol
, vol.155
, pp. 3013-3020
-
-
Madsen, H.O.1
Garred, P.2
Thiel, S.3
Kurtzhals, J.A.4
Lamm, L.U.5
Ryder, L.P.6
Svejgaard, A.7
-
23
-
-
0026847422
-
Characterization of a second human pulmonary surfactant-associated protein SP-A gene
-
Katyal SL, Singh G, Locker J. Characterization of a second human pulmonary surfactant-associated protein SP-A gene. Am J Respir Cell Mol Biol 1992;6:446-452.
-
(1992)
Am J Respir Cell Mol Biol
, vol.6
, pp. 446-452
-
-
Katyal, S.L.1
Singh, G.2
Locker, J.3
-
24
-
-
0031795467
-
Genetics of the hydrophilic surfactant proteins A and D
-
Floros J, Hoover RR. Genetics of the hydrophilic surfactant proteins A and D. Biochim Biophys Acta 1998;1408:312-322.
-
(1998)
Biochim Biophys Acta
, vol.1408
, pp. 312-322
-
-
Floros, J.1
Hoover, R.R.2
-
25
-
-
0031471090
-
Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis
-
Corey M, Edwards L, Levison H, Knowles M. Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis. J Pediatr 1997;131:809-814.
-
(1997)
J Pediatr
, vol.131
, pp. 809-814
-
-
Corey, M.1
Edwards, L.2
Levison, H.3
Knowles, M.4
-
26
-
-
0023177034
-
The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10
-
Bruns G, Stroh H, Veldman GM, Latt SA, Floros J. The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10. Hum Genet 1987;76:58-62.
-
(1987)
Hum Genet
, vol.76
, pp. 58-62
-
-
Bruns, G.1
Stroh, H.2
Veldman, G.M.3
Latt, S.A.4
Floros, J.5
-
27
-
-
0023213385
-
The coding sequence for the 32,000-Dalton pulmonary surfactant-associated protein A is located on chromosome 10 and identifies two separate restriction-fragment-length polymorphisms
-
Fisher JH, Kao FT, Jones C, White RT, Benson BJ, Mason RJ. The coding sequence for the 32,000-Dalton pulmonary surfactant-associated protein A is located on chromosome 10 and identifies two separate restriction-fragment-length polymorphisms. Am J Hum Genet 1987;40:503-511.
-
(1987)
Am J Hum Genet
, vol.40
, pp. 503-511
-
-
Fisher, J.H.1
Kao, F.T.2
Jones, C.3
White, R.T.4
Benson, B.J.5
Mason, R.J.6
-
28
-
-
0033619497
-
Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: Cohort study
-
Gabolde M, Guilloud-Bataille M, Feingold J, Besmond C. Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study. Br Med J [Clin Res] 1999;319:1166-1167.
-
(1999)
Br Med J [Clin Res]
, vol.319
, pp. 1166-1167
-
-
Gabolde, M.1
Guilloud-Bataille, M.2
Feingold, J.3
Besmond, C.4
-
29
-
-
0032615014
-
Deficient hydrophilic lung surfactant proteins A and D with normal surfactant phospholipid molecular species in cystic fibrosis
-
Postle AD, Mander A, Reid KB, Wang JY, Wright SM, Moustaki M, Warner JO. Deficient hydrophilic lung surfactant proteins A and D with normal surfactant phospholipid molecular species in cystic fibrosis. Am J Respir Cell Mol Biol 1999;20: 90-98.
-
(1999)
Am J Respir Cell Mol Biol
, vol.20
, pp. 90-98
-
-
Postle, A.D.1
Mander, A.2
Reid, K.B.3
Wang, J.Y.4
Wright, S.M.5
Moustaki, M.6
Warner, J.O.7
-
30
-
-
0033930359
-
Function and composition of pulmonary surfactant and surfactant-derived fatty acid profiles are altered in young adults with cystic fibrosis
-
Meyer KC, Sharma A, Brown R, Weatherly M, Moya FR, Lewandoski J, Zimmerman JJ. Function and composition of pulmonary surfactant and surfactant-derived fatty acid profiles are altered in young adults with cystic fibrosis. Chest 2000;118:164-174.
-
(2000)
Chest
, vol.118
, pp. 164-174
-
-
Meyer, K.C.1
Sharma, A.2
Brown, R.3
Weatherly, M.4
Moya, F.R.5
Lewandoski, J.6
Zimmerman, J.J.7
-
31
-
-
0026100992
-
The utility of postmortem lung for RNA studies: Variability and correlation of the expression of surfactant proteins in human lung
-
Floros J, Phelps DS, deMello DE, Longmate J, Harding H, Benson B, White T. The utility of postmortem lung for RNA studies: variability and correlation of the expression of surfactant proteins in human lung. Exp Lung Res 1991;17:91-104.
-
(1991)
Exp Lung Res
, vol.17
, pp. 91-104
-
-
Floros, J.1
Phelps, D.S.2
DeMello, D.E.3
Longmate, J.4
Harding, H.5
Benson, B.6
White, T.7
-
32
-
-
0031014861
-
Effect of genotype on the levels of surfactant protein A mRNA and on the SP-A2 splice variants in adult humans
-
Karinch AM, deMello DE, Floros J. Effect of genotype on the levels of surfactant protein A mRNA and on the SP-A2 splice variants in adult humans. Biochem J 1997;321:39-47.
-
(1997)
Biochem J
, vol.321
, pp. 39-47
-
-
Karinch, A.M.1
DeMello, D.E.2
Floros, J.3
-
33
-
-
0034034146
-
Human SP-A protein variants derived from one or both genes stimulate TNF-alpha production in the THP-1 cell line
-
Wang G, Phelps DS, Umstead TM, Floros J. Human SP-A protein variants derived from one or both genes stimulate TNF-alpha production in the THP-1 cell line. Am J Physiol Lung Cell Mol Physiol 2000;278:946-954.
-
(2000)
Am J Physiol Lung Cell Mol Physiol
, vol.278
, pp. 946-954
-
-
Wang, G.1
Phelps, D.S.2
Umstead, T.M.3
Floros, J.4
-
34
-
-
0032185233
-
Surfactant protein-A-deficient mice are susceptible to Pseudomonas aeruginosa infection
-
LeVine AM, Kurak KE, Bruno MD, Stark JM, Whitsett JA, Korfhagen TR. Surfactant protein-A-deficient mice are susceptible to Pseudomonas aeruginosa infection. Am J Respir Cell Mol Biol 1998;19:700-708.
-
(1998)
Am J Respir Cell Mol Biol
, vol.19
, pp. 700-708
-
-
LeVine, A.M.1
Kurak, K.E.2
Bruno, M.D.3
Stark, J.M.4
Whitsett, J.A.5
Korfhagen, T.R.6
-
35
-
-
0034292361
-
Distinct effects of surfactant protein A or D deficiency during bacterial infection on the lung
-
LeVine AM, Whitsett JA, Gwozdz JA, Richardson TR, Fisher JH, Burhans MS, Korfhagen TR. Distinct effects of surfactant protein A or D deficiency during bacterial infection on the lung. J Immunol 2000;165:3934-3940.
-
(2000)
J Immunol
, vol.165
, pp. 3934-3940
-
-
LeVine, A.M.1
Whitsett, J.A.2
Gwozdz, J.A.3
Richardson, T.R.4
Fisher, J.H.5
Burhans, M.S.6
Korfhagen, T.R.7
-
36
-
-
0030930737
-
Pulmonary surfactant in cystic fibrosis
-
Griese M, Birrer P, Demirsoy A. Pulmonary surfactant in cystic fibrosis. Eur Respir J 1997;10:1983-1988.
-
(1997)
Eur Respir J
, vol.10
, pp. 1983-1988
-
-
Griese, M.1
Birrer, P.2
Demirsoy, A.3
-
38
-
-
12144257634
-
Pseudomonas aeruginosa protease IV degrades surfactant proteins and inhibits surfactant host defense and biophysical functions
-
Malloy JL, Veldhuizen RA, Thibodeaux BA, O'Callaghan RJ, Wright JR. Pseudomonas aeruginosa protease IV degrades surfactant proteins and inhibits surfactant host defense and biophysical functions. Am J Physiol Lung Cell Mol Physiol 2005;288:409-418.
-
(2005)
Am J Physiol Lung Cell Mol Physiol
, vol.288
, pp. 409-418
-
-
Malloy, J.L.1
Veldhuizen, R.A.2
Thibodeaux, B.A.3
O'Callaghan, R.J.4
Wright, J.R.5
-
39
-
-
4043052927
-
Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype
-
Yarden J, Radojkovic D, De Boeck K, Macek M Jr, Zemkova D, Vavrova V, Vlietinck R, Cassiman JJ, Cuppens H. Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype. J Med Genet 2004;41:629-633.
-
(2004)
J Med Genet
, vol.41
, pp. 629-633
-
-
Yarden, J.1
Radojkovic, D.2
De Boeck, K.3
Macek Jr., M.4
Zemkova, D.5
Vavrova, V.6
Vlietinck, R.7
Cassiman, J.J.8
Cuppens, H.9
-
40
-
-
8644255090
-
Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles
-
Davies JC, Turner MW, Klein N, Lodon MBL CF Study Group. Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. Eur Respir J 2004;24:798-804.
-
(2004)
Eur Respir J
, vol.24
, pp. 798-804
-
-
Davies, J.C.1
Turner, M.W.2
Klein, N.3
Lodon, M.B.L.4
|