-
1
-
-
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;14:141-5.
-
(1996)
Nat. Genet.
, vol.14
, pp. 141-145
-
-
Whitcomb, D.C.1
Gorry, M.C.2
Preston, R.A.3
-
2
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Cohn 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;339:653-8.
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 653-658
-
-
Cohn, J.A.1
Friedman, K.J.2
Noone, P.G.3
Knowles, M.R.4
Silverman, L.M.5
Jowell, P.S.6
-
3
-
-
0032480253
-
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
-
Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-52.
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 645-652
-
-
Sharer, N.1
Schwarz, M.2
Malone, G.3
-
4
-
-
0034039578
-
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
-
Witt H, Luck W, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-6.
-
(2000)
Nat. Genet.
, vol.25
, pp. 213-216
-
-
Witt, H.1
Luck, W.2
Hennies, H.C.3
-
5
-
-
0033857452
-
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
-
Pfützer RH, Barmada MM, Brunskill APJ, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-23.
-
(2000)
Gastroenterology
, vol.119
, pp. 615-623
-
-
Pfützer, R.H.1
Barmada, M.M.2
Brunskill, A.P.J.3
-
6
-
-
0002884935
-
Pancreatic secretory enzymes
-
Go VLW, DiMagno EP, Gardner JD, Lebenthal E, Reber HA, Scheele GA, eds. 2nd edn. New York: Raven Press
-
Rinderknecht H. Pancreatic secretory enzymes. In: Go VLW, DiMagno EP, Gardner JD, Lebenthal E, Reber HA, Scheele GA, eds. The Pancreas: Biology, Pathobiology, and Disease, 2nd edn. New York: Raven Press, 1993:219-51.
-
(1993)
The Pancreas: Biology, Pathobiology, and Disease
, pp. 219-251
-
-
Rinderknecht, H.1
-
7
-
-
0032775422
-
Hereditary pancreatitis: New insights into acute and chronic pancreatitis
-
Whitcomb DC. Hereditary pancreatitis: New insights into acute and chronic pancreatitis. Gut 1999;45:317-22.
-
(1999)
Gut
, vol.45
, pp. 317-322
-
-
Whitcomb, D.C.1
-
8
-
-
0034043830
-
Genetic predispositions to acute and chronic pancreatitis
-
Whitcomb DC. Genetic predispositions to acute and chronic pancreatitis. Med Clin North Am 2000;84:531-47.
-
(2000)
Med. Clin. North Am.
, vol.84
, pp. 531-547
-
-
Whitcomb, D.C.1
-
9
-
-
0030813082
-
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
-
Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113:1063-8.
-
(1997)
Gastroenterology
, vol.113
, pp. 1063-1068
-
-
Gorry, M.C.1
Gabbaizedeh, D.2
Furey, W.3
-
10
-
-
0032756767
-
Trypsinogen mutations in chronic pancreatitis
-
(Lett)
-
Pfützer RH, Whitcomb DC. Trypsinogen mutations in chronic pancreatitis. Gastroenterology 1999;117:1507-8. (Lett)
-
(1999)
Gastroenterology
, vol.117
, pp. 1507-1508
-
-
Pfützer, R.H.1
Whitcomb, D.C.2
-
11
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
and the Nomenclature Working Group
-
Antonarakis SE, and the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
12
-
-
0032481258
-
Two mutations in rat trypsin confer resistance against autolysis
-
Varallyay E, Pal G, Patthy A, Szilagyi L, Graf L. Two mutations in rat trypsin confer resistance against autolysis. Biochem Biophys Res Commun 1998;243:56-60.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.243
, pp. 56-60
-
-
Varallyay, E.1
Pal, G.2
Patthy, A.3
Szilagyi, L.4
Graf, L.5
-
13
-
-
0040625000
-
Hereditary pancreatitis-associated mutation asn(21) → ile stabilizes rat trypsinogen in vitro
-
Sahin-Toth M. Hereditary pancreatitis-associated mutation asn(21) → ile stabilizes rat trypsinogen in vitro. J Biol Chem 1999;274:29699-704.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 29699-29704
-
-
Sahin-Toth, M.1
-
14
-
-
0035128513
-
A new polymorphism for the R117H mutation in hereditary pancreatitis
-
Howes N, Greenhalf W, Rutherford S, et al. A new polymorphism for the R117H mutation in hereditary pancreatitis. Gut 2001;48:247-50.
-
(2001)
Gut
, vol.48
, pp. 247-250
-
-
Howes, N.1
Greenhalf, W.2
Rutherford, S.3
-
15
-
-
0036151004
-
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis
-
Pfützer RH, Myers E, Applebaum-Shapiro SE, et al. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. Gut 2002;50:271-2.
-
(2002)
Gut
, vol.50
, pp. 271-272
-
-
Pfützer, R.H.1
Myers, E.2
Applebaum-Shapiro, S.E.3
-
16
-
-
0030665320
-
Hereditary pancreatitis and familial pancreatic cancer
-
Finch MD, Howes N, Ellis I, et al. Hereditary pancreatitis and familial pancreatic cancer. Digestion 1997;58:564-9.
-
(1997)
Digestion
, vol.58
, pp. 564-569
-
-
Finch, M.D.1
Howes, N.2
Ellis, I.3
-
17
-
-
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;36:228-32.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 228-232
-
-
Ferec, C.1
Raguenes, O.2
Salomon, R.3
-
18
-
-
0000428865
-
Evidence for further mutations of the cationic trypsinogen in hereditary pancreatitis
-
(Abst)
-
Teich N, Ockenga J, Manus MP, Mössner J, Keim V. Evidence for further mutations of the cationic trypsinogen in hereditary pancreatitis. Digestion 1999;60:401. (Abst)
-
(1999)
Digestion
, vol.60
, pp. 401
-
-
Teich, N.1
Ockenga, J.2
Manus, M.P.3
Mössner, J.4
Keim, V.5
-
19
-
-
0032988134
-
Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis
-
Nishimori I, Kamakura M, Fujikawa-Adachi K, et al. Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis. Gut 1999;44:259-63.
-
(1999)
Gut
, vol.44
, pp. 259-263
-
-
Nishimori, I.1
Kamakura, M.2
Fujikawa-Adachi, K.3
-
20
-
-
0034940538
-
Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis
-
Lowenfels AB, Maisonneuve P, Whitcomb DC, Lerch MM, DiMagno EP. Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. JAMA 2001;286:169-70.
-
(2001)
JAMA
, vol.286
, pp. 169-170
-
-
Lowenfels, A.B.1
Maisonneuve, P.2
Whitcomb, D.C.3
Lerch, M.M.4
DiMagno, E.P.5
-
21
-
-
0034043609
-
Genetic testing. Counseling, laboratory, and regulatory issues and the EUROPAC protocol for ethical research in multicenter studies of inherited pancreatic diseases
-
Applebaum SE, Kant JA, Whitcomb DC, Ellis IH. Genetic testing. Counseling, laboratory, and regulatory issues and the EUROPAC protocol for ethical research in multicenter studies of inherited pancreatic diseases. Med Clin North Am 2000;82:575-88.
-
(2000)
Med. Clin. North Am.
, vol.82
, pp. 575-588
-
-
Applebaum, S.E.1
Kant, J.A.2
Whitcomb, D.C.3
Ellis, I.H.4
-
22
-
-
0035017036
-
Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis
-
Applebaum-Shapiro SE, Peters JA, O'Connell JA, Aston CE, Whitcomb DC. Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis. Am J Gastroenterol 2001;96:1610-7.
-
(2001)
Am. J. Gastroenterol.
, vol.96
, pp. 1610-1617
-
-
Applebaum-Shapiro, S.E.1
Peters, J.A.2
O'Connell, J.A.3
Aston, C.E.4
Whitcomb, D.C.5
-
23
-
-
0035109764
-
Chronic pancreatitis: Diagnosis, classification, and new genetic developments
-
Etemad B, Whitcomb DC. Chronic pancreatitis: Diagnosis, classification, and new genetic developments. Gastroenterology 2001;120:682-707.
-
(2001)
Gastroenterology
, vol.120
, pp. 682-707
-
-
Etemad, B.1
Whitcomb, D.C.2
-
24
-
-
0030975440
-
Hereditary pancreatitis and the risk of pancreatic cancer
-
International Hereditary Pancreatitis Study Group
-
Lowenfels A, Maisonneuve P, DiMagno E, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997;89:442-6.
-
(1997)
J. Natl. Cancer Inst.
, vol.89
, pp. 442-446
-
-
Lowenfels, A.1
Maisonneuve, P.2
DiMagno, E.3
-
25
-
-
0035554033
-
Genetic testing for hereditary pancreatitis: Guidelines for indications, counselling, consent and privacy issues
-
Ellis I, Lerch MM, Whitcomb DC. Genetic testing for hereditary pancreatitis: Guidelines for indications, counselling, consent and privacy issues. Pancreatology 2001;1:405-15.
-
(2001)
Pancreatology
, vol.1
, pp. 405-415
-
-
Ellis, I.1
Lerch, M.M.2
Whitcomb, D.C.3
-
26
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 1989;245:1066-73.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
-
27
-
-
0032480363
-
Pancreatitis and mutations of the cystic fibrosis gene
-
(Lett)
-
Durie PR. Pancreatitis and mutations of the cystic fibrosis gene. N Engl J Med 1998;339:687-8. (Lett)
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 687-688
-
-
Durie, P.R.1
-
28
-
-
1842333889
-
Genotype and phenotype in cystic fibrosis
-
Tsui LC, Durie P. Genotype and phenotype in cystic fibrosis. Hosp Pract 1997;32:115-8.
-
(1997)
Hosp. Pract.
, vol.32
, pp. 115-118
-
-
Tsui, L.C.1
Durie, P.2
-
29
-
-
16944366526
-
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
-
Macek M Jr, Mackova A, Hamosh A, et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997;60:1122-7.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1122-1127
-
-
Macek M., Jr.1
Mackova, A.2
Hamosh, A.3
-
30
-
-
0029616734
-
Cystic fibrosis: Genotypic and phenotypic variations
-
Zielenski J, Tsui LC. Cystic fibrosis: Genotypic and phenotypic variations. Ann Rev Genet 1995;29:777-807.
-
(1995)
Ann. Rev. Genet.
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.C.2
-
31
-
-
0034083024
-
Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunction
-
Durie PR. Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunction. Med Clin North Am 2000;84:609-20.
-
(2000)
Med. Clin. North Am.
, vol.84
, pp. 609-620
-
-
Durie, P.R.1
-
32
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
-
(1995)
N. Engl. J. Med.
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
-
33
-
-
0027310434
-
Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance
-
Strong TV, Wilkinson DJ, Mansoura MK, et al. Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum Mol Genet 1993;2:225-30.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 225-230
-
-
Strong, T.V.1
Wilkinson, D.J.2
Mansoura, M.K.3
-
34
-
-
0028791190
-
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
-
Costes B, Girodon E, Ghanem N, et al. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 1995;3:285-93.
-
(1995)
Eur. J. Hum. Genet.
, vol.3
, pp. 285-293
-
-
Costes, B.1
Girodon, E.2
Ghanem, N.3
-
35
-
-
0033911954
-
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia
-
Gomez Lira M, Benetazzo MG, Marzari MG, et al. High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. Am J Hum Genet 2000;66:2013-4.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 2013-2014
-
-
Gomez Lira, M.1
Benetazzo, M.G.2
Marzari, M.G.3
-
36
-
-
0035123690
-
Mutations of cystic fibrosis gene in patients with pancreatitis
-
Re: Ockenga et al. (Lett)
-
Lowenfels A, Maisonneuve P, Palys B. Re: Ockenga et al - Mutations of cystic fibrosis gene in patients with pancreatitis. Am J Gastroenterol 2001;96:614-5. (Lett)
-
(2001)
Am. J. Gastroenterol.
, vol.96
, pp. 614-615
-
-
Lowenfels, A.1
Maisonneuve, P.2
Palys, B.3
-
37
-
-
0034039048
-
Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis
-
Cohn JA, Bornstein JD, Jowell PS. Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. Med Clin North Am 2000;84:621-31.
-
(2000)
Med. Clin. North Am.
, vol.84
, pp. 621-631
-
-
Cohn, J.A.1
Bornstein, J.D.2
Jowell, P.S.3
-
38
-
-
0033842814
-
Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels
-
Massie RJ, Wilcken B, Van Asperen F, et al. Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels. J Pediatr 2000;137;214-20.
-
(2000)
J. Pediatr.
, vol.137
, pp. 214-220
-
-
Massie, R.J.1
Wilcken, B.2
Van Asperen, F.3
-
39
-
-
0026562867
-
Congenital bilateral absence of the vas deferens. A primary genital form of cystic fibrosis
-
Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens. A primary genital form of cystic fibrosis. JAMA 1992;267:1794-7.
-
(1992)
JAMA
, vol.267
, pp. 1794-1797
-
-
Anguiano, A.1
Oates, R.D.2
Amos, J.A.3
-
40
-
-
0034638436
-
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population
-
Wang X, Moylan B, Leopold DA, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 2000;284:1814-9.
-
(2000)
JAMA
, vol.284
, pp. 1814-1819
-
-
Wang, X.1
Moylan, B.2
Leopold, D.A.3
-
41
-
-
0002636260
-
Chronic pancreatitis
-
Yamada T, ed. Philadelphia: J.B. Lippincott
-
Owyang C, Levitt M. Chronic pancreatitis. In: Yamada T, ed. Textbook of Gastroenterology. Philadelphia: J.B. Lippincott, 1991:1874-93.
-
(1991)
Textbook of Gastroenterology
, pp. 1874-1893
-
-
Owyang, C.1
Levitt, M.2
-
42
-
-
0035553705
-
Third International Symposium on Inherited Diseases of the Pancreas
-
Whitcomb DC, Ulrich CD, Lerch MM, et al. Third International Symposium on Inherited Diseases of the Pancreas. Pancreatology 2001;1:423-31.
-
(2001)
Pancreatology
, vol.1
, pp. 423-431
-
-
Whitcomb, D.C.1
Ulrich, C.D.2
Lerch, M.M.3
-
44
-
-
0034111551
-
Mutation analysis of the human pancreatic secretory inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
-
Chen J-M, Mercier B, Audrezet M-P, Ferec C. Mutation analysis of the human pancreatic secretory inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J Med Genet 2000;37:67-9.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 67-69
-
-
Chen, J.-M.1
Mercier, B.2
Audrezet, M.-P.3
Ferec, C.4
-
45
-
-
0001816334
-
Mutations in the SPINK1 gene modify the phenotypic expression of hereditary pancreatitis caused by cationic trypsinogen (PRSS1) mutations R122H and N291
-
(Abst)
-
Pfützer RH, Finch R, Shapiro SE, et al. Mutations in the SPINK1 gene modify the phenotypic expression of hereditary pancreatitis caused by cationic trypsinogen (PRSS1) mutations R122H and N291. Gastroenterology 2001;120:A33. (Abst)
-
(2001)
Gastroenterology
, vol.120
-
-
Pfützer, R.H.1
Finch, R.2
Shapiro, S.E.3
-
47
-
-
0000434786
-
Screening for a point mutation of cationic trypsinogen in patients with pancreatic disease
-
(Abst)
-
Böhm A-K, Reinheckel T, Rosenstrauch D, Halangk W, Schulz HU. Screening for a point mutation of cationic trypsinogen in patients with pancreatic disease. Digestion 1999;60:369. (Abst)
-
(1999)
Digestion
, vol.60
, pp. 369
-
-
Böhm, A.-K.1
Reinheckel, T.2
Rosenstrauch, D.3
Halangk, W.4
Schulz, H.U.5
-
48
-
-
4243773431
-
Molecular pathogenesis of chronic pancreatitis associated with abnormal CFTR genotypes
-
(Abst)
-
Cohn JA, Bornstein JD, Jowell PJ, et al. Molecular pathogenesis of chronic pancreatitis associated with abnormal CFTR genotypes. Gastroenterology 2000;118:A159. (Abst)
-
(2000)
Gastroenterology
, vol.118
-
-
Cohn, J.A.1
Bornstein, J.D.2
Jowell, P.J.3
-
49
-
-
0033519935
-
Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis
-
(Lett)
-
Creighton J, Lyall R, Wilson DI, Curtis A, Charnley R. Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis. Lancet 1999;354:42-3. (Lett)
-
(1999)
Lancet
, vol.354
, pp. 42-43
-
-
Creighton, J.1
Lyall, R.2
Wilson, D.I.3
Curtis, A.4
Charnley, R.5
-
50
-
-
0018150025
-
Hereditary pancreatitis in England and Wales
-
Sibert JR. Hereditary pancreatitis in England and Wales. J Med Genet 1978;15:189-201.
-
(1978)
J. Med. Genet.
, vol.15
, pp. 189-201
-
-
Sibert, J.R.1
-
53
-
-
0030848153
-
Clinical characteristics of hereditary pancreatitis in a large family based on high-risk haplotype
-
The Midwest Multicenter Pancreatic Study Group (MMPSG)
-
Sossenheimer MJ, Aston CE, Preston RA, et al. Clinical characteristics of hereditary pancreatitis in a large family based on high-risk haplotype. The Midwest Multicenter Pancreatic Study Group (MMPSG). Am J Gastroenterol 1997;92:1113-6.
-
(1997)
Am. J. Gastroenterol.
, vol.92
, pp. 1113-1116
-
-
Sossenheimer, M.J.1
Aston, C.E.2
Preston, R.A.3
-
54
-
-
0031662469
-
The natural history of hereditary chronic pancreatitis: A study of 12 cases compared to chronic alcoholic pancreatitis
-
Paolini O, Hastier P, Buckley M, et al. The natural history of hereditary chronic pancreatitis: a study of 12 cases compared to chronic alcoholic pancreatitis. Pancreas 1998;17:266-71.
-
(1998)
Pancreas
, vol.17
, pp. 266-271
-
-
Paolini, O.1
Hastier, P.2
Buckley, M.3
|