-
1
-
-
0000050066
-
An efficient protocol for CFTR mutation detection based on multiplex heteroduplex analysis (mHET)
-
Abstract
-
Aznarez, I., Onay, T., Tzounzouris, J., Markiewicz, D., Mak, V., Tsui, L.C. and Zielenski, J. (1998). An efficient protocol for CFTR mutation detection based on multiplex heteroduplex analysis (mHET). Pediatr. Pulmonol. (Suppl.) 17: 332 (Abstract).
-
(1998)
Pediatr. Pulmonol. (Suppl.)
, vol.17
, pp. 332
-
-
Aznarez, I.1
Onay, T.2
Tzounzouris, J.3
Markiewicz, D.4
Mak, V.5
Tsui, L.C.6
Zielenski, J.7
-
2
-
-
0034090798
-
Molecular analysis on Brazilian cystic fibrosis patients reveals five novel mutations
-
Bernardino, A.L., Ferri, A., Passos-Bueno, M.R., Kim, C.E., Nakaie, C.M., Gomes, C., Damaceno, N. and Zatz, M. (2000). Molecular analysis on Brazilian cystic fibrosis patients reveals five novel mutations. Genet. Test 4: 69-74.
-
(2000)
Genet. Test.
, vol.4
, pp. 69-74
-
-
Bernardino, A.L.1
Ferri, A.2
Passos-Bueno, M.R.3
Kim, C.E.4
Nakaie, C.M.5
Gomes, C.6
Damaceno, N.7
Zatz, M.8
-
3
-
-
0031048465
-
Spectrum of CFTR mutations in Argentine cystic fibrosis patients
-
Chertkoff, L., Visich, A., Bienvenu, T., Grenoville, M., Segal, E., Carniglia, L., Kaplan, J.C. and Barreiro, C. (1997). Spectrum of CFTR mutations in Argentine cystic fibrosis patients. Clin. Genet. 51: 43-47.
-
(1997)
Clin. Genet.
, vol.51
, pp. 43-47
-
-
Chertkoff, L.1
Visich, A.2
Bienvenu, T.3
Grenoville, M.4
Segal, E.5
Carniglia, L.6
Kaplan, J.C.7
Barreiro, C.8
-
4
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillón, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silver, S., Romey, M.C., Ruíz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C. and Estivill, X. (1995). Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New Eng. J. Med. 332: 1475-1480.
-
(1995)
New Eng. J. Med.
, vol.332
, pp. 1475-1480
-
-
Chillón, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silver, S.6
Romey, M.C.7
Ruíz-Romero, J.8
Verlingue, C.9
Claustres, M.10
Nunes, V.11
Ferec, C.12
Estivill, X.13
-
7
-
-
0342657015
-
Characterization of a novel 21-kilobase deletion, CFTRdele2,3 (21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe
-
Dörk, T., Macek Jr., M., Mekus, F., Tümmler, B., Tzountzouris, J., Casals, T., Krebsová, A., Koudová, M., Sakmaryová, I., Macek Sr., M., Vávrová, V., Zemková, D., Ginter, E., Petrova, N.V., Ivaschenko, T., Baranov, V., Witt, M., Pogorzelski, A., Bal, J., Zékanowsky, C., Wagner, W., Stuhrmann, M., Bauer, I., Seydewitz, H.H., Neumann, T., Jakubiczka, S., Kraus, C., Thamm, B., Nechiporenko, M., Livshits, L., Mosse, N., Tsukerman, G., Kadási, L., Ravnik-Glavac, M., Glavac, D., Komel, R., Vouk, K., Kucinskas, V., Krumina, A., Teder, M., Kocheva, S., Efremov, G.D., Onay, T., Kirdar, B., Malone, G., Schwarz, M., Zhou, Z., Friedman, K.J., Carles, S., Claustres, M., Bozon, D., Verlingue, C., Férec, C., Tzetis, M., Kanavakis, E., Cuppens, H., Bombieri, C., Pignatti, P.F., Sangiuolo, F., Jordanova, A., Kusic, J., Radojkovic, D., Sertic, J., Richter, D., Stavljenic Rukavina, A., Bjorck, E., Strandvik, B., Cardoso, H., Montgomery, M., Nakielna, B., Hughes, D., Estivill, X., Aznarez, I., Tullis, E., Tsui, L.-C. and Zielenski, J. (2000). Characterization of a novel 21-kilobase deletion, CFTRdele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum. Genet. 106: 259-268.
-
(2000)
Hum. Genet.
, vol.106
, pp. 259-268
-
-
Dörk, T.1
Macek Jr., M.2
Mekus, F.3
Tümmler, B.4
Tzountzouris, J.5
Casals, T.6
Krebsová, A.7
Koudová, M.8
Sakmaryová, I.9
Macek Sr., M.10
Vávrová, V.11
Zemková, D.12
Ginter, E.13
Petrova, N.V.14
Ivaschenko, T.15
Baranov, V.16
Witt, M.17
Pogorzelski, A.18
Bal, J.19
Zékanowsky, C.20
Wagner, W.21
Stuhrmann, M.22
Bauer, I.23
Seydewitz, H.H.24
Neumann, T.25
Jakubiczka, S.26
Kraus, C.27
Thamm, B.28
Nechiporenko, M.29
Livshits, L.30
Mosse, N.31
Tsukerman, G.32
Kadási, L.33
Ravnik-Glavac, M.34
Glavac, D.35
Komel, R.36
Vouk, K.37
Kucinskas, V.38
Krumina, A.39
Teder, M.40
Kocheva, S.41
Efremov, G.D.42
Onay, T.43
Kirdar, B.44
Malone, G.45
Schwarz, M.46
Zhou, Z.47
Friedman, K.J.48
Carles, S.49
Claustres, M.50
Bozon, D.51
Verlingue, C.52
Férec, C.53
Tzetis, M.54
Kanavakis, E.55
Cuppens, H.56
Bombieri, C.57
Pignatti, P.F.58
Sangiuolo, F.59
Jordanova, A.60
Kusic, J.61
Radojkovic, D.62
Sertic, J.63
Richter, D.64
Stavljenic Rukavina, A.65
Bjorck, E.66
Strandvik, B.67
Cardoso, H.68
Montgomery, M.69
Nakielna, B.70
Hughes, D.71
Estivill, X.72
Aznarez, I.73
Tullis, E.74
Tsui, L.-C.75
Zielenski, J.76
more..
-
8
-
-
0026780584
-
Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
-
Fanen, P., Ghanem, N., Vidaud, M., Besmond, C., Martin, J., Costes, B., Plassa, F. and Goossens, M. (1992). Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13: 770-776.
-
(1992)
Genomics
, vol.13
, pp. 770-776
-
-
Fanen, P.1
Ghanem, N.2
Vidaud, M.3
Besmond, C.4
Martin, J.5
Costes, B.6
Plassa, F.7
Goossens, M.8
-
9
-
-
0025762972
-
The search for south European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences
-
Gasparini, P., Nunes, V., Savoia, A., Dognini, M., Morral, N., Gaona, A., Bonizzato, A., Chillon, M., Sangiuolo, F., Novelli, G., Dallapiccola, B., Pignatti, P.F. and Estivill, X. (1991). The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Genomics 10: 193-200.
-
(1991)
Genomics
, vol.10
, pp. 193-200
-
-
Gasparini, P.1
Nunes, V.2
Savoia, A.3
Dognini, M.4
Morral, N.5
Gaona, A.6
Bonizzato, A.7
Chillon, M.8
Sangiuolo, F.9
Novelli, G.10
Dallapiccola, B.11
Pignatti, P.F.12
Estivill, X.13
-
10
-
-
9244225677
-
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine iontophoresis
-
Gibson, L.E. and Cooke, R.E. (1959). A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine iontophoresis. Pediatrics 23: 545-549.
-
(1959)
Pediatrics
, vol.23
, pp. 545-549
-
-
Gibson, L.E.1
Cooke, R.E.2
-
13
-
-
0024595101
-
Detection of polymorphisms on human DNA by gel electrophoresis as single strand conformation polymorphisms
-
Orita, M., Iwahara, H., Kanazawa, H., Hayashai, K. and Sekiya, T. (1989). Detection of polymorphisms on human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86: 2766-2770.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahara, H.2
Kanazawa, H.3
Hayashai, K.4
Sekiya, T.5
-
14
-
-
0027156775
-
Frequency of ΔF508 in a Mexican sample of cystic fibrosis patients
-
Orozco, L., Salsedo, M., Lezana, J.L., Chavez, M., Valdez, H., Moreno, M. and Carnevale, A. (1993). Frequency of ΔF508 in a Mexican sample of cystic fibrosis patients. J. Med. Genet. 30: 501-502.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 501-502
-
-
Orozco, L.1
Salsedo, M.2
Lezana, J.L.3
Chavez, M.4
Valdez, H.5
Moreno, M.6
Carnevale, A.7
-
16
-
-
0003531952
-
-
Oxford University Press, New York, NY, USA
-
PNUD (1997). Human Development: Report 1997. Oxford University Press, New York, NY, USA, pp. 350.
-
(1997)
Human Development: Report 1997
, pp. 350
-
-
-
17
-
-
0027303876
-
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from guthrie cards
-
Raskin, S., Phillips III, J.A., Krishnamani, M.R.S., Vnencak-Jones, C., Parker, R.A., Rozov, T., Cardieri, J.M., Marostica, P., Abreu, F., Giugliani, R., Reis, F., Rosario, N.A., Ludwig, N. and Pilotto, R.F. (1993). DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from guthrie cards. Am. J. Med. Genet. 46: 665-669.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 665-669
-
-
Raskin, S.1
Phillips III, J.A.2
Krishnamani, M.R.S.3
Vnencak-Jones, C.4
Parker, R.A.5
Rozov, T.6
Cardieri, J.M.7
Marostica, P.8
Abreu, F.9
Giugliani, R.10
Reis, F.11
Rosario, N.A.12
Ludwig, N.13
Pilotto, R.F.14
-
18
-
-
0027998620
-
CFTR mutations in Chilean cystic fibrosis patients
-
Røos, J., Orellana, O., Aspillaga, M., Avedano, I., Largo, I. and Riveros, N. (1994). CFTR mutations in Chilean cystic fibrosis patients. Hum. Genet. 94: 291-294.
-
(1994)
Hum. Genet.
, vol.94
, pp. 291-294
-
-
Røos, J.1
Orellana, O.2
Aspillaga, M.3
Avedano, I.4
Largo, I.5
Riveros, N.6
-
19
-
-
0031900652
-
The diagnosis of cystic fibrosis: A consensus statement
-
Cystic Fibrosis Foundation Consensus Panel
-
Rosenstein, B.J. and Cutting, G.R. (1998). The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J. Pediatr. 132: 589-595.
-
(1998)
J. Pediatr.
, vol.132
, pp. 589-595
-
-
Rosenstein, B.J.1
Cutting, G.R.2
-
20
-
-
0016800090
-
A rapid method for determining sequences in DNA by primer synthesis with DNA polymerase
-
Sanger, F. and Coulson, A.R. (1975). A rapid method for determining sequences in DNA by primer synthesis with DNA polymerase. J. Mol. Biol. 94: 441-448.
-
(1975)
J. Mol. Biol.
, vol.94
, pp. 441-448
-
-
Sanger, F.1
Coulson, A.R.2
-
21
-
-
84894070904
-
El problema de la integración de los negros a la sociedad general
-
Sociedad y Cultura en el Montevideo Colonial (Behares, L.E. and Cures, O., eds.). Cabildo de Montevideo, Uruguay
-
Sans, M. and Barreto, I. (1998). El problema de la integración de los negros a la sociedad general. In: Sociedad y Cultura en el Montevideo Colonial (Behares, L.E. and Cures, O., eds.). Recopilación de ponencias del seminario "Sociedad y Cultura en el Montevideo del Siglo XVIII". Cabildo de Montevideo, Uruguay.
-
(1998)
Recopilación de Ponencias del Seminario "Sociedad y Cultura en el Montevideo del Siglo XVIII"
-
-
Sans, M.1
Barreto, I.2
-
22
-
-
0031128108
-
Historical genetics in Uruguay: Estimates of biological origins and their problems
-
Sans, M., Salzano, F.M. and Chakraborty, R. (1997). Historical genetics in Uruguay: estimates of biological origins and their problems. Hum. Biol. 69: 161-170.
-
(1997)
Hum. Biol.
, vol.69
, pp. 161-170
-
-
Sans, M.1
Salzano, F.M.2
Chakraborty, R.3
-
23
-
-
0028033069
-
Population variations of common cystic fibrosis mutations
-
The Cystic Fibrosis Genetic Analysis Consortium (1994). Population variations of common cystic fibrosis mutations. Hum. Mutat. 4: 167-177.
-
(1994)
Hum. Mutat.
, vol.4
, pp. 167-177
-
-
-
24
-
-
0026641782
-
The spectrum of cystic fibrosis mutations
-
Tsui, L.-C. (1992). The spectrum of cystic fibrosis mutations. Trends Genet. 8: 392-398.
-
(1992)
Trends Genet.
, vol.8
, pp. 392-398
-
-
Tsui, L.-C.1
-
25
-
-
0346994966
-
Genética de la fibrosis quística
-
Valenzuela, C. (1988). Genética de la fibrosis quística. Rev. Chil. Pediatr. 31: 218-219.
-
(1988)
Rev. Chil. Pediatr.
, vol.31
, pp. 218-219
-
-
Valenzuela, C.1
-
26
-
-
0000026508
-
Cystic fibrosis
-
(Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., eds.). 7th edn. McGraw Hill, New York, NY, USA
-
Welsh, M., Tsui, L.-C., Boat, T.F. and Beaudet, A.L. (1995). Cystic fibrosis, In: The Metabolic and Molecular Basis of Inherited Disease (Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., eds.). 7th edn. McGraw Hill, New York, NY, USA, pp. 3799-3876.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3799-3876
-
-
Welsh, M.1
Tsui, L.-C.2
Boat, T.F.3
Beaudet, A.L.4
-
27
-
-
0029616734
-
Cystic fibrosis: Genotypic and phenotypic variations
-
Zielenski, J. and Tsui, L.-C. (1995). Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet. 29: 777-807.
-
(1995)
Annu. Rev. Genet.
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.-C.2
-
28
-
-
0025909386
-
Identification of mutations in exon 1 through 8 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene
-
Zielenski, J., Bozon, D., Kerem, B., Markiewicz, D., Durie, P., Rommens, J. and Tsui, L.C. (1991). Identification of mutations in exon 1 through 8 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Genomics 10: 229-235.
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.3
Markiewicz, D.4
Durie, P.5
Rommens, J.6
Tsui, L.C.7
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