-
1
-
-
85047700382
-
Determination of the relative contribution of three genes - The cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis
-
Audrezet MP, Chen JM, Le Marechal C et al. Determination of the relative contribution of three genes - the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur J Hum Genet 2005: 10: 100-106.
-
(2005)
Eur J Hum Genet
, vol.10
, pp. 100-106
-
-
Audrezet, M.P.1
Chen, J.M.2
Le Marechal, C.3
-
3
-
-
10144246566
-
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
-
Whitcomb DC, Gorry MC, Preston RA et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996: 14: 141-145.
-
(1996)
Nat Genet
, vol.14
, pp. 141-145
-
-
Whitcomb, D.C.1
Gorry, M.C.2
Preston, R.A.3
-
5
-
-
23344450542
-
Pancreatitis among patients with cystic fibrosis: Correlation with pancreatic status and genotype
-
De Boeck K, Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis: Correlation with pancreatic status and genotype. Pediatrics 2005: 115: 463-469.
-
(2005)
Pediatrics
, vol.115
, pp. 463-469
-
-
De Boeck, K.1
Weren, M.2
Proesmans, M.3
Kerem, E.4
-
7
-
-
0033857452
-
SPINK1/PST1 polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
-
Pfutzer RH, Barmada MM, Brunskill AP et al. SPINK1/PST1 polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000: 119: 615-623.
-
(2000)
Gastroenterology
, vol.119
, pp. 615-623
-
-
Pfutzer, R.H.1
Barmada, M.M.2
Brunskill, A.P.3
-
8
-
-
15444366704
-
Reduced CFTR function and the pathobiology of idiopathic pancreatitis
-
Cohn JA. Reduced CFTR function and the pathobiology of idiopathic pancreatitis. J Clin Gastroenterol 2005: 39: S70-S77.
-
(2005)
J Clin Gastroenterol
, vol.39
-
-
Cohn, J.A.1
-
9
-
-
16644371666
-
A mathematical model of the pancreatic duct cell generating high bicarbonate concentrations in pancreatic juice
-
Whitcomb DC, Ermentrout GB. A mathematical model of the pancreatic duct cell generating high bicarbonate concentrations in pancreatic juice. Pancreas 2004: 29: 30-40.
-
(2004)
Pancreas
, vol.29
, pp. 30-40
-
-
Whitcomb, D.C.1
Ermentrout, G.B.2
-
10
-
-
4544378176
-
Purification and crystallization of the cystic fibrosis transmembrane conductance regulator (CFTR)
-
Rosenberg MF, Kamis AB, Alexandrov LA, Ford RC, Riordan JR. Purification and crystallization of the cystic fibrosis transmembrane conductance regulator (CFTR). J Biol Chem 2004: 279: 39051-39057.
-
(2004)
J Biol Chem
, vol.279
, pp. 39051-39057
-
-
Rosenberg, M.F.1
Kamis, A.B.2
Alexandrov, L.A.3
Ford, R.C.4
Riordan, J.R.5
-
11
-
-
30944432118
-
Cystic fibrosis transmembrane regulator mutations and pancreatic disease: Closing the gap between genotype and phenotype
-
Morinville V, Slivka A. Cystic fibrosis transmembrane regulator mutations and pancreatic disease: Closing the gap between genotype and phenotype. Gastrointest Endosc 2006: 63: 240-242.
-
(2006)
Gastrointest Endosc
, vol.63
, pp. 240-242
-
-
Morinville, V.1
Slivka, A.2
-
12
-
-
0034109607
-
Genotype and phenotype in cystic fibrosis
-
Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000: 67: 117-133.
-
(2000)
Respiration
, vol.67
, pp. 117-133
-
-
Zielenski, J.1
-
13
-
-
0035722764
-
"CFTR-opathies": Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
-
Noone PG, Knowles MR. "CFTR-opathies": Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001: 2: 328-332.
-
(2001)
Respir Res
, vol.2
, pp. 328-332
-
-
Noone, P.G.1
Knowles, M.R.2
-
14
-
-
0031960072
-
Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligospermia
-
Kanavakis E, Tzetis M, Antoniadi Th, Pistofidis G, Milligos S, Kattamis C. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligospermia. Mol Hum Reprod 1998: 4: 333-337.
-
(1998)
Mol Hum Reprod
, vol.4
, pp. 333-337
-
-
Kanavakis, E.1
Tzetis, M.2
Antoniadi, Th.3
Pistofidis, G.4
Milligos, S.5
Kattamis, C.6
-
15
-
-
0035070082
-
CFTR gene mutations - Including three novel nucleotide substitutions - And haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
-
Tzetis M, Efthymiadou A, Strofalis S et al. CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 2001: 108: 216-211.
-
(2001)
Hum Genet
, vol.108
, pp. 211-216
-
-
Tzetis, M.1
Efthymiadou, A.2
Strofalis, S.3
-
16
-
-
11144356282
-
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
-
Casals T, Aparisi L, Martinez-Costa C et al. Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis? Pancreas 2004: 28: 374-379.
-
(2004)
Pancreas
, vol.28
, pp. 374-379
-
-
Casals, T.1
Aparisi, L.2
Martinez-Costa, C.3
-
17
-
-
0038298386
-
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas
-
Ahmed N, Corey M, Forstner G et al. Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas. Gut 2003: 8: 1159-1164.
-
(2003)
Gut
, vol.8
, pp. 1159-1164
-
-
Ahmed, N.1
Corey, M.2
Forstner, G.3
-
18
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
-
Cuppens H, Lin W, Jaspers M et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998: 101: 487-496.
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
-
19
-
-
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
-
20
-
-
30944439483
-
ERCP findings in idiopathic pancreatitis: Patients who are cystic fibrosis gene positive and negative
-
Azlami WM, Fogel EL, Schmidt S et al. ERCP findings in idiopathic pancreatitis: Patients who are cystic fibrosis gene positive and negative. Gastrointest Endosc 2006: 63: 234-239.
-
(2006)
Gastrointest Endosc
, vol.63
, pp. 234-239
-
-
Azlami, W.M.1
Fogel, E.L.2
Schmidt, S.3
-
21
-
-
0034111551
-
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PST1) gene in hereditary and sporadic chronic pancreatitis
-
Chen JM, Mercier B, Audrezet MP, Ferec C. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PST1) gene in hereditary and sporadic chronic pancreatitis. J Med Genet 2000: 37: 67-69.
-
(2000)
J Med Genet
, vol.37
, pp. 67-69
-
-
Chen, J.M.1
Mercier, B.2
Audrezet, M.P.3
Ferec, C.4
-
22
-
-
0034039578
-
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
-
Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000: 25: 213-216.
-
(2000)
Nat Genet
, vol.25
, pp. 213-216
-
-
Witt, H.1
Luck, W.2
Hennies, H.C.3
Classen, M.4
Kage, A.5
Lass, U.6
-
24
-
-
0043133693
-
Cystic fibrosis in Greece: Molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
-
Kanavakis E, Efthymiadou A, Strofalis S, Doudounakis S, Traeger-Synodinos J, Tzetis M. Cystic fibrosis in Greece: Molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clin Genet 2003: 63: 400-409.
-
(2003)
Clin Genet
, vol.63
, pp. 400-409
-
-
Kanavakis, E.1
Efthymiadou, A.2
Strofalis, S.3
Doudounakis, S.4
Traeger-Synodinos, J.5
Tzetis, M.6
-
25
-
-
2442723724
-
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
-
Ferec C, Raguenes O, Salomon R et al. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J Med Genet 1999: 36: 228-232.
-
(1999)
J Med Genet
, vol.36
, pp. 228-232
-
-
Ferec, C.1
Raguenes, O.2
Salomon, R.3
-
26
-
-
0030749512
-
Rapid characterization 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 R, Knowles MR, Silverman LM. Rapid characterization 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 Mutat 1997: 10: 108-115.
-
(1997)
Hum Mutat
, vol.10
, pp. 108-115
-
-
Friedman, K.J.1
Heim, R.2
Knowles, M.R.3
Silverman, L.M.4
-
27
-
-
0036725869
-
The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
-
Rohlfs EM, Zhou Z, Sugarman EA et al. The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis. Genet Med 2002: 4: 319-323.
-
(2002)
Genet Med
, vol.4
, pp. 319-323
-
-
Rohlfs, E.M.1
Zhou, Z.2
Sugarman, E.A.3
-
28
-
-
34248324430
-
Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in Central Eastern Europe [CFTRdele2, 3(21kb)]
-
Lamprecht G, Mau UA, Kortum C et al. Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in Central Eastern Europe [CFTRdele2, 3(21kb)]. Pancreatology 2003: 269: 1-5.
-
(2003)
Pancreatology
, vol.269
, pp. 1-5
-
-
Lamprecht, G.1
Mau, U.A.2
Kortum, C.3
-
29
-
-
0035043677
-
Analysis of the human pancreatic secretory trypsin inhibitor (PST1) gene mutations in Japanese patients with chronic pancreatitis
-
Kaneko K, Nagasaki Y, Furukawa T et al. Analysis of the human pancreatic secretory trypsin inhibitor (PST1) gene mutations in Japanese patients with chronic pancreatitis. J Hum Genet 2001: 46: 293-297.
-
(2001)
J Hum Genet
, vol.46
, pp. 293-297
-
-
Kaneko, K.1
Nagasaki, Y.2
Furukawa, T.3
-
30
-
-
3242666086
-
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients
-
Bernardino ALF, Guarita DR, Mott CB et al. CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. JOP 2003: 4: 169-177.
-
(2003)
JOP
, vol.4
, pp. 169-177
-
-
Bernardino, A.L.F.1
Guarita, D.R.2
Mott, C.B.3
-
31
-
-
33745728414
-
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: General principles and overview
-
Chen JM, Ferec C, Cooper DN. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: General principles and overview. Hum Genet 2006: 120: 1-21.
-
(2006)
Hum Genet
, vol.120
, pp. 1-21
-
-
Chen, J.M.1
Ferec, C.2
Cooper, D.N.3
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