-
1
-
-
0038542859
-
-
Foster City, CA: Applied Biosystems
-
Applied Biosystems (2001) User Bulletin 2. Foster City, CA: Applied Biosystems
-
(2001)
User Bulletin 2
-
-
-
2
-
-
0033227657
-
Interference of P1290P polymorphism (4002 A > G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: An example of a diagnostic trap
-
Bienvenu T, Bousquet S, Souville I, Beldjord C (1999) Interference of P1290P polymorphism (4002 A > G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: An example of a diagnostic trap. Ann Biol Clin 57:741-742
-
(1999)
Ann Biol Clin
, vol.57
, pp. 741-742
-
-
Bienvenu, T.1
Bousquet, S.2
Souville, I.3
Beldjord, C.4
-
3
-
-
0031292837
-
Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis
-
Brinson EC, Adriano T, Bloch W, Chang CC, Chen J, Eggerding FA, Grossman PD, Iovannisci DM, Madonik AM, Sherman DG, Tam RW, Winn-Deen ES, Woo SL, Fung S, Iovannisci DA (1997) Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis. Genet Test 1:61-68
-
(1997)
Genet Test
, vol.1
, pp. 61-68
-
-
Brinson, E.C.1
Adriano, T.2
Bloch, W.3
Chang, C.C.4
Chen, J.5
Eggerding, F.A.6
Grossman, P.D.7
Iovannisci, D.M.8
Madonik, A.M.9
Sherman, D.G.10
Tam, R.W.11
Winn-Deen, E.S.12
Woo, S.L.13
Fung, S.14
Iovannisci, D.A.15
-
5
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Férec C, Estivill X (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332:1475-1480
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.C.7
Ruiz-Romero, J.8
Verlingue, C.9
Claustres, M.10
Nunes, V.11
Férec, C.12
Estivill, X.13
-
6
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 339:653-658
-
(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
-
7
-
-
0029782355
-
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens
-
Colin AA, Sawyer SM, Mickle JE, Oates RD, Milunsky A, Amos JA (1996) Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest 110:440-445
-
(1996)
Chest
, vol.110
, pp. 440-445
-
-
Colin, A.A.1
Sawyer, S.M.2
Mickle, J.E.3
Oates, R.D.4
Milunsky, A.5
Amos, J.A.6
-
8
-
-
1842339924
-
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
-
Dork T, Dworniczak B, Aulehla-Scholz C, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M (1997) Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 100:365-377
-
(1997)
Hum Genet
, vol.100
, pp. 365-377
-
-
Dork, T.1
Dworniczak, B.2
Aulehla-Scholz, C.3
Bohm, I.4
Mayerova, A.5
Seydewitz, H.H.6
Nieschlag, E.7
Meschede, D.8
Horst, J.9
Pander, H.J.10
Sperling, H.11
Ratjen, F.12
Passarge, E.13
Schmidtke, J.14
Stuhrmann, M.15
-
9
-
-
0032993421
-
Analysis of 31 CFTR mutations by polymerase chain reaction/ oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis
-
Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P (1999) Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. J Med Screen 6:67-69
-
(1999)
J Med Screen
, vol.6
, pp. 67-69
-
-
Gasparini, P.1
Arbustini, E.2
Restagno, G.3
Zelante, L.4
Stanziale, P.5
Gatta, L.6
Sbaiz, L.7
Sedita, A.M.8
Banchieri, N.9
Sapone, L.10
Fiorucci, G.C.11
Brinson, E.12
Shulse, E.13
Rappaport, E.14
Fortina, P.15
-
10
-
-
0028150976
-
High-density multiplex detection of nucleic acid sequences: Oligonucleotide ligation assay and sequence-coded separation
-
Grossman PD, Bloch W, Brinson E, Chang CC, Eggerding FA, Fung S, Iovannisci DM, Woo S, Winn-Deen ES (1994) High-density multiplex detection of nucleic acid sequences: Oligonucleotide ligation assay and sequence-coded separation. Nucleic Acids Res 22:4527-4534
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 4527-4534
-
-
Grossman, P.D.1
Bloch, W.2
Brinson, E.3
Chang, C.C.4
Eggerding, F.A.5
Fung, S.6
Iovannisci, D.M.7
Woo, S.8
Winn-Deen, E.S.9
-
11
-
-
0034953244
-
Quantitative real-time PCR assay for determining transgene copy number in transformed plants
-
Ingham DJ, Beer S, Money S, Hansen G (2001) Quantitative real-time PCR assay for determining transgene copy number in transformed plants. Biotechniques 31:132-140
-
(2001)
Biotechniques
, vol.31
, pp. 132-140
-
-
Ingham, D.J.1
Beer, S.2
Money, S.3
Hansen, G.4
-
12
-
-
21644480223
-
Rapid detection of CFTR gene re-arrangements impacts on genetic counselling in cystic fibrosis
-
Niel F, Martin J, Dastot-Le Moal F, Costes B, Boissier B, Delattre V, Goossens M, Girondon E (2004) Rapid detection of CFTR gene re-arrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 41:e118
-
(2004)
J Med Genet
, vol.41
-
-
Niel, F.1
Martin, J.2
Dastot-Le Moal, F.3
Costes, B.4
Boissier, B.5
Delattre, V.6
Goossens, M.7
Girondon, E.8
-
13
-
-
0006616755
-
-
Online April 14-16, 1997
-
NIH Consensus Statement (1997) Genetic Testing for Cystic Fibrosis. 15(4):1-37. Online April 14-16, 1997.
-
(1997)
Genetic Testing for Cystic Fibrosis
, vol.15
, Issue.4
, pp. 1-37
-
-
-
14
-
-
0037299355
-
On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis
-
Perri F, Piepoli A, Andriulli A (2003a) On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis. Eur J Hum Genet 2:107
-
(2003)
Eur J Hum Genet
, vol.2
, pp. 107
-
-
Perri, F.1
Piepoli, A.2
Andriulli, A.3
-
15
-
-
0141590214
-
A mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis
-
Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A (2003b) A Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis. Eur J Hum Genet 1:687-692
-
(2003)
Eur J Hum Genet
, vol.1
, pp. 687-692
-
-
Perri, F.1
Piepoli, A.2
Stanziale, P.3
Merla, A.4
Zelante, L.5
Andriulli, A.6
-
16
-
-
0028958565
-
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
-
Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M (1995) Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 4:635-639.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 635-639
-
-
Pignatti, P.F.1
Bombieri, C.2
Marigo, C.3
Benetazzo, M.4
Luisetti, M.5
-
17
-
-
0036178715
-
Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient
-
Spitzer E, Staab D, Hanke R, Wahn U, Grosse R (2002) Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient. Eur Respir J 19:374-376
-
(2002)
Eur Respir J
, vol.19
, pp. 374-376
-
-
Spitzer, E.1
Staab, D.2
Hanke, R.3
Wahn, U.4
Grosse, R.5
-
18
-
-
0034035576
-
CFTR gene mutations and male infertility
-
Stuhrmann M, Dork T (2000) CFTR gene mutations and male infertility. Andrologia 32:71-83
-
(2000)
Andrologia
, vol.32
, pp. 71-83
-
-
Stuhrmann, M.1
Dork, T.2
-
19
-
-
0037214955
-
Molecular diagnosis of cystic fibrosis: Comparison of four analytical procedures
-
Tomaiuolo R, Spina M, Castaldo G (2003) Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 41:26-32
-
(2003)
Clin Chem Lab Med
, vol.41
, pp. 26-32
-
-
Tomaiuolo, R.1
Spina, M.2
Castaldo, G.3
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