-
1
-
-
0029952840
-
Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery
-
Kingdom TT, Lee KC, Fitzsimmons SC, et al. Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery. Arch Otolaryngol Head Neck Surg. 1996; 122: 1209-1213.
-
(1996)
Arch Otolaryngol Head Neck Surg
, vol.122
, pp. 1209-1213
-
-
Kingdom, T.T.1
Lee, K.C.2
Fitzsimmons, S.C.3
-
2
-
-
0030498284
-
Is nasal polyposis in cystic fibrosis a direct manifestation of genetic mutation or complication of chronic infection?
-
De Gaudemar I, Contencin P, Vanden Abbeele T, et al. Is nasal polyposis in cystic fibrosis a direct manifestation of genetic mutation or complication of chronic infection? Rhinology. 1996; 34: 194-197.
-
(1996)
Rhinology
, vol.34
, pp. 194-197
-
-
de Gaudemar, I.1
Contencin, P.2
Vanden Abbeele, T.3
-
4
-
-
0036157691
-
Nasal polyps in cystic fibrosis: Clinical endoscopic study with nasal lavage fluid analysis
-
Henriksson G, Westrin KM, Karpati F, et al. Nasal polyps in cystic fibrosis: clinical endoscopic study with nasal lavage fluid analysis. Chest. 2002; 121: 40-47.
-
(2002)
Chest
, vol.121
, pp. 40-47
-
-
Henriksson, G.1
Westrin, K.M.2
Karpati, F.3
-
5
-
-
0037399241
-
Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis
-
Cimmino M, Cavaliere M, Nardone M, et al. Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis. Clin Otolaryngol. 2003; 28: 125-132.
-
(2003)
Clin Otolaryngol
, vol.28
, pp. 125-132
-
-
Cimmino, M.1
Cavaliere, M.2
Nardone, M.3
-
7
-
-
0027102946
-
Nasal and paranasal disease in adult cystic fibrosis patients
-
Kerrebijn JD, Poublon RM, Overbeek SE. Nasal and paranasal disease in adult cystic fibrosis patients. Eur Respir J. 1992; 5: 1239-1242.
-
(1992)
Eur Respir J
, vol.5
, pp. 1239-1242
-
-
Kerrebijn, J.D.1
Poublon, R.M.2
Overbeek, S.E.3
-
8
-
-
0030750568
-
Nasal and sinus polyposis in children
-
Triglia JM, Nicollas R. Nasal and sinus polyposis in children. Laryngoscope. 1997; 107: 963-966.
-
(1997)
Laryngoscope
, vol.107
, pp. 963-966
-
-
Triglia, J.M.1
Nicollas, R.2
-
9
-
-
0036908133
-
Nasal polyposis in children with cystic fibrosis: A long-term follow-up study
-
Yung MW, Gould J, Upton GJ. Nasal polyposis in children with cystic fibrosis: a long-term follow-up study. Ann Otol Rhinol Laryngol. 2002; 111: 1081-1086.
-
(2002)
Ann Otol Rhinol Laryngol
, vol.111
, pp. 1081-1086
-
-
Yung, M.W.1
Gould, J.2
Upton, G.J.3
-
10
-
-
0027534755
-
Identification of 12 novel mutations in the CFTR gene
-
Audrezet MP, Mercier B, Guillermit H, et al. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet. 1993; 2: 51-54.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 51-54
-
-
Audrezet, M.P.1
Mercier, B.2
Guillermit, H.3
-
11
-
-
1842477279
-
Novel CFTR mutations in black cystic fibrosis patients
-
Feuillet-Fieux MN, Ferrec M, Gigarel N, et al. Novel CFTR mutations in black cystic fibrosis patients. Clin Genet. 2004; 65: 284-287.
-
(2004)
Clin Genet
, vol.65
, pp. 284-287
-
-
Feuillet-Fieux, M.N.1
Ferrec, M.2
Gigarel, N.3
-
12
-
-
0034760913
-
Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: A large European study
-
Amaral MD, Pacheco P, Beck S, et al. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. J Med Genet. 2001; 38: 777-783.
-
(2001)
J Med Genet
, vol.38
, pp. 777-783
-
-
Amaral, M.D.1
Pacheco, P.2
Beck, S.3
-
13
-
-
0032963915
-
Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis
-
Jorissen MB, De Boeck K, Cuppens H. Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis. Am J Respir Crit Care Med. 1999: 159: 1412-1416.
-
(1999)
Am J Respir Crit Care Med
, vol.159
, pp. 1412-1416
-
-
Jorissen, M.B.1
de Boeck, K.2
Cuppens, H.3
-
14
-
-
48849096390
-
Incidence and evolution of nasal polyps in children and adolescents with cystic fibrosis
-
Weber SA, Ferrari GF. Incidence and evolution of nasal polyps in children and adolescents with cystic fibrosis. Rev Bras Otorhinolaryngol. 2008; 74: 16-20.
-
(2008)
Rev Bras Otorhinolaryngol
, vol.74
, pp. 16-20
-
-
Weber, S.A.1
Ferrari, G.F.2
-
15
-
-
0042283246
-
Longterm study of one hundred and five patients with cystic fibrosis: Studies made over five to fourteen year period
-
Shwachman H, Kulczycki LL. Longterm study of one hundred and five patients with cystic fibrosis: studies made over 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
-
18
-
-
0036562420
-
Nasal polyps in patients with rhinitis and asthma
-
Grigoreas C, Vourdas D, Petala K, et al. Nasal polyps in patients with rhinitis and asthma. Allergy Asthma Proc. 2002; 23: 169-174.
-
(2002)
Allergy Asthma Proc
, vol.23
, pp. 169-174
-
-
Grigoreas, C.1
Vourdas, D.2
Petala, K.3
-
20
-
-
56149108213
-
A genomewide screen for chronic rhinosinusitis genes identifies a locus on chromosome 7q
-
Pinto JM, Hayes MG, Schneider D, Naclerio RM, Ober C. A genomewide screen for chronic rhinosinusitis genes identifies a locus on chromosome 7q. Laryngoscope. 2008; 118: 2067-2072.
-
(2008)
Laryngoscope
, vol.118
, pp. 2067-2072
-
-
Pinto, J.M.1
Hayes, M.G.2
Schneider, D.3
Naclerio, R.M.4
Ober, C.5
-
22
-
-
0020385130
-
Treatment and prognosis of nasal polyps in cystic fibrosis
-
Stern RC, Boat TF, Wood RE, et al. Treatment and prognosis of nasal polyps in cystic fibrosis. Am J Dis Child. 1982; 136: 1067-1070.
-
(1982)
Am J Dis Child
, vol.136
, pp. 1067-1070
-
-
Stern, R.C.1
Boat, T.F.2
Wood, R.E.3
-
23
-
-
80051749993
-
Prevalence of cystic fibrosis in children who present with nasal polyp sis
-
Schmitt EJ, Neaville W, Pongdee T. Prevalence of cystic fibrosis in children who present with nasal polyp sis. J Allergy Clin Immunol. 2005; 115 S1:516.
-
(2005)
J Allergy Clin Immunol
, vol.115
, Issue.1
, pp. 516
-
-
Schmitt, E.J.1
Neaville, W.2
Pongdee, T.3
-
24
-
-
0029147140
-
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (519 del18) in the CFTR gene
-
Varon R, Magdorf K, Staab D, et al. Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (519 del18) in the CFTR gene. Hum Mol Genet. 1995; 8: 1463-1464.
-
(1995)
Hum Mol Genet
, vol.8
, pp. 1463-1464
-
-
Varon, R.1
Magdorf, K.2
Staab, D.3
-
25
-
-
0027696798
-
Chronic sinusitis and nasal polyps as the initial manifestation of cystic fibrosis
-
Fidalgo Alvarez I, Lopez Pacios D, et al. Chronic sinusitis and nasal polyps as the initial manifestation of cystic fibrosis. Acta Otorinolaringol Esp. 1993; 44: 457-459.
-
(1993)
Acta Otorinolaringol Esp
, vol.44
, pp. 457-459
-
-
Fidalgo Alvarez, I.1
Lopez Pacios, D.2
-
26
-
-
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: 51-65.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 51-65
-
-
Dequeker, E.1
Stuhrmann, M.2
Morris, M.A.3
-
27
-
-
0025133518
-
Identification of mutations in region corresponding to the putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
-
Kerem BS, Zielenski J, Markiewicz D, et al. Identification of mutations in region corresponding to the putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA. 1990; 87: 8447-8451.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.S.1
Zielenski, J.2
Markiewicz, D.3
-
28
-
-
0026734588
-
Genetic determination of exocrine pancreatic function in cystic fibrosis
-
Kristidis P, Bozon D, Corey M, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet. 1992; 50: 1178-84.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1178-1184
-
-
Kristidis, P.1
Bozon, D.2
Corey, M.3
-
29
-
-
0026780584
-
Molecular characterisation of cystic fibrosis: 16 novel mutations identified by analysis of whole Cystic Fibrosis Regulator (CFTR) coding regions and splice site junction
-
Fanen P, Ghanem M, Vidaud M, et al. Molecular characterisation of cystic fibrosis: 16 novel mutations identified by analysis of whole Cystic Fibrosis Regulator (CFTR) coding regions and splice site junction. Genomics. 1992; 132: 770-776.
-
(1992)
Genomics
, vol.132
, pp. 770-776
-
-
Fanen, P.1
Ghanem, M.2
Vidaud, M.3
-
30
-
-
0028791190
-
Frequent occurence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens
-
Costes B, Girodon E, Ghanem N, et al. Frequent occurence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet. 1995; 3: 285-293.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 285-293
-
-
Costes, B.1
Girodon, E.2
Ghanem, N.3
-
32
-
-
80051710633
-
Etudes moléculaires, cellu-laires et fonctionnelles de 6 mutations rares du gène CFTR
-
Ingster O, Norez C, About F, et al. Etudes moléculaires, cellu-laires et fonctionnelles de 6 mutations rares du gène CFTR. Med Sci. 2006; 2/22: 149, abstract P397.
-
(2006)
Med Sci
, vol.149
-
-
Ingster, O.1
Norez, C.2
About, F.3
-
33
-
-
0029040369
-
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients
-
Ferec C, Novelli G, Verlingue C et al. Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probes 1995; 9: 135-137.
-
(1995)
Mol Cell Probes
, vol.9
, pp. 135-137
-
-
Ferec, C.1
Novelli, G.2
Verlingue, C.3
-
34
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu CS, Trapnell BC, Curristin S, et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet. 1993; 3: 151-156.
-
(1993)
Nature Genet
, vol.3
, pp. 151-156
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.3
-
35
-
-
0026656343
-
Extensive posttranscrip-tional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis
-
Chu CS, Trapnell BC, Curristin S, et al. Extensive posttranscrip-tional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J Clin Invest. 1992; 90: 785-790.
-
(1992)
J Clin Invest
, vol.90
, pp. 785-790
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.3
-
36
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes
-
Cuppens H, Lin W, Costes B et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. J Clin Invest. 1998; 101: 487-496.
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Costes, B.3
-
37
-
-
0033724681
-
Lung disease associated with the IVS8-5T allele of the CFTR gene
-
Noone PG, Pue CA, Zhou Z, et al. Lung disease associated with the IVS8-5T allele of the CFTR gene. Am J Respir Crit Care Med. 2000; 162: 1919-1924.
-
(2000)
Am J Respir Crit Care Med
, vol.162
, pp. 1919-1924
-
-
Noone, P.G.1
Pue, C.A.2
Zhou, Z.3
-
38
-
-
0030749512
-
Rapid characterisation of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease
-
Friedman KJ, Heim RA, Knowles MR, et al. Rapid characterisation of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Hum Mut. 1997; 9: 108-115.
-
(1997)
Hum Mut
, vol.9
, pp. 108-115
-
-
Friedman, K.J.1
Heim, R.A.2
Knowles, M.R.3
-
39
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas defer-ens
-
Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas defer-ens. N Engl J Med. 1995; 332: 1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
-
40
-
-
0029960243
-
CFTR gene variant IVS8-5T in disseminated bronchiectasis
-
Pignatti PF, Bombieri C, Benetazzo M, et al. CFTR gene variant IVS8-5T in disseminated bronchiectasis. Am J Hum Genet. 1996; 58: 889-892.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 889-892
-
-
Pignatti, P.F.1
Bombieri, C.2
Benetazzo, M.3
-
41
-
-
30744444177
-
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
-
Bishop MD, Freedman SD, Zielenski J, et al. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet. 2005; 118: 372-381.
-
(2005)
Hum Genet
, vol.118
, pp. 372-381
-
-
Bishop, M.D.1
Freedman, S.D.2
Zielenski, J.3
-
42
-
-
0006792928
-
Clinical presentation of patients carrying the 5 thymidine tract in intron 8. From healthy individuals to typical CF
-
Kerem E, Rave-Harel N, Augarten A, et al. Clinical presentation of patients carrying the 5 thymidine tract in intron 8. From healthy individuals to typical CF. Pediatr Pulmonol. 1995; 12: 203.
-
(1995)
Pediatr Pulmonol
, vol.12
, pp. 203
-
-
Kerem, E.1
Rave-Harel, N.2
Augarten, A.3
-
43
-
-
9144235448
-
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
-
Groman JD, Hefferon TW, Casals T, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet. 2004; 74: 176-179.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 176-179
-
-
Groman, J.D.1
Hefferon, T.W.2
Casals, T.3
-
44
-
-
0032756818
-
Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
-
Niksic M, Romano M, Buratti E, et al. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet. 1999; 8: 2339-2349.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2339-2349
-
-
Niksic, M.1
Romano, M.2
Buratti, E.3
-
45
-
-
29144503706
-
Analysis of most common CFTR mutations in patients affected by nasal polyps
-
Kostuch M, Klatka J, Semczuk A, et al. Analysis of most common CFTR mutations in patients affected by nasal polyps. Eur Arch Oto-Rhino-Laryngol. Head Neck. 2005; 262: 982-986.
-
(2005)
Eur Arch Oto-Rhino-Laryngol. Head Neck
, vol.262
, pp. 982-986
-
-
Kostuch, M.1
Klatka, J.2
Semczuk, A.3
-
46
-
-
0025868894
-
Genetic influences in the formation of nasal polyps
-
Bürger J, Macek M, Stuhrmann M, et al. Genetic influences in the formation of nasal polyps. Lancet. 1991; 337: 974.
-
(1991)
Lancet
, vol.337
, pp. 974
-
-
Bürger, J.1
Macek, M.2
Stuhrmann, M.3
-
47
-
-
0031421874
-
Cystic fibrosis trans-membrane conductance regulator gene mutations in severe nasal polyposis
-
Irving RM, McMahon R, Clark R, et al. Cystic fibrosis trans-membrane conductance regulator gene mutations in severe nasal polyposis. Clin Otolaryngol. 1997: 22: 519-521.
-
(1997)
Clin Otolaryngol
, vol.22
, pp. 519-521
-
-
Irving, R.M.1
McMahon, R.2
Clark, R.3
-
48
-
-
0034638436
-
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinos-inusitis in the general population
-
Wang XJ, Moylan B, Leopold DA, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinos-inusitis in the general population. JAMA. 2000; 284: 1814-1819.
-
(2000)
JAMA
, vol.284
, pp. 1814-1819
-
-
Wang, X.J.1
Moylan, B.2
Leopold, D.A.3
|