TY  - JOUR
AU  - Mizzi, C.
AU  - Dalabira, E.
AU  - Kumuthini, J.
AU  - Dzimiri, N.
AU  - Balogh, I.
AU  - Başak, N.
AU  - Böhm, R.
AU  - Borg, J.
AU  - Borgiani, P.
AU  - Bozina, N.
AU  - Bruckmueller, B.
AU  - Burzynska, B.
AU  - Carracedo, A.
AU  - Cascorbi, I.
AU  - Deltas, C.
AU  - Dolzan, V.
AU  - Fenech, A.
AU  - Grech, G.
AU  - Kasiulevicius, V.
AU  - Kádaši, D.
AU  - Kučinskas, V.
AU  - Khusnutdinova, E.
AU  - Loukas, Y.L.
AU  - Macek, M.
AU  - Makukh, H.
AU  - Mathijssen, R.
AU  - Mitropoulos, K.
AU  - Mitropoulou, C.
AU  - Novelli, G.
AU  - Papantoni, I.
AU  - Pavlović, Sonja
AU  - Saglio, G.
AU  - Setrić, J.
AU  - Stojiljković, Maja
AU  - Stubbs, A.P.
AU  - Squassina, A.
AU  - Torres, M.
AU  - Turnovec, M.
AU  - van Schaik, R.H.
AU  - Voskarides, K.
AU  - Wakil, S.M.
AU  - Werk, A.
AU  - del Zompo, M.
AU  - Zukić, Branka
AU  - Katsila, T.
AU  - Ta Michael Lee, M.
AU  - Motsinger-Rief, A.
AU  - Mc Leod, H.L.
AU  - van der Spek, P.J.
AU  - Patrinos, G.P.
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1027
AB  - The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić.
PB  - Public Library of Science
T2  - PLoS One
T1  - Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)
IS  - 2
VL  - 12
DO  - 10.1371/journal.pone.0172595
ER  - 

@article{
author = "Mizzi, C. and Dalabira, E. and Kumuthini, J. and Dzimiri, N. and Balogh, I. and Başak, N. and Böhm, R. and Borg, J. and Borgiani, P. and Bozina, N. and Bruckmueller, B. and Burzynska, B. and Carracedo, A. and Cascorbi, I. and Deltas, C. and Dolzan, V. and Fenech, A. and Grech, G. and Kasiulevicius, V. and Kádaši, D. and Kučinskas, V. and Khusnutdinova, E. and Loukas, Y.L. and Macek, M. and Makukh, H. and Mathijssen, R. and Mitropoulos, K. and Mitropoulou, C. and Novelli, G. and Papantoni, I. and Pavlović, Sonja and Saglio, G. and Setrić, J. and Stojiljković, Maja and Stubbs, A.P. and Squassina, A. and Torres, M. and Turnovec, M. and van Schaik, R.H. and Voskarides, K. and Wakil, S.M. and Werk, A. and del Zompo, M. and Zukić, Branka and Katsila, T. and Ta Michael Lee, M. and Motsinger-Rief, A. and Mc Leod, H.L. and van der Spek, P.J. and Patrinos, G.P.",
year = "2017",
abstract = "The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić.",
publisher = "Public Library of Science",
journal = "PLoS One",
title = "Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)",
number = "2",
volume = "12",
doi = "10.1371/journal.pone.0172595"
}

Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, I., Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, B., Burzynska, B., Carracedo, A., Cascorbi, I., Deltas, C., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, D., Kučinskas, V., Khusnutdinova, E., Loukas, Y.L., Macek, M., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlović, S., Saglio, G., Setrić, J., Stojiljković, M., Stubbs, A.P., Squassina, A., Torres, M., Turnovec, M., van Schaik, R.H., Voskarides, K., Wakil, S.M., Werk, A., del Zompo, M., Zukić, B., Katsila, T., Ta Michael Lee, M., Motsinger-Rief, A., Mc Leod, H.L., van der Spek, P.J.,& Patrinos, G.P.. (2017). Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866). in PLoS One
Public Library of Science., 12(2).
https://doi.org/10.1371/journal.pone.0172595

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller B, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši D, Kučinskas V, Khusnutdinova E, Loukas Y, Macek M, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlović S, Saglio G, Setrić J, Stojiljković M, Stubbs A, Squassina A, Torres M, Turnovec M, van Schaik R, Voskarides K, Wakil S, Werk A, del Zompo M, Zukić B, Katsila T, Ta Michael Lee M, Motsinger-Rief A, Mc Leod H, van der Spek P, Patrinos G. Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866). in PLoS One. 2017;12(2).
doi:10.1371/journal.pone.0172595 .

Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, I., Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, B., Burzynska, B., Carracedo, A., Cascorbi, I., Deltas, C., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, D., Kučinskas, V., Khusnutdinova, E., Loukas, Y.L., Macek, M., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlović, Sonja, Saglio, G., Setrić, J., Stojiljković, Maja, Stubbs, A.P., Squassina, A., Torres, M., Turnovec, M., van Schaik, R.H., Voskarides, K., Wakil, S.M., Werk, A., del Zompo, M., Zukić, Branka, Katsila, T., Ta Michael Lee, M., Motsinger-Rief, A., Mc Leod, H.L., van der Spek, P.J., Patrinos, G.P., "Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)" in PLoS One, 12, no. 2 (2017),
https://doi.org/10.1371/journal.pone.0172595 . .

TY  - JOUR
AU  - Dork, T
AU  - Macek, M
AU  - Mekus, F
AU  - Tummler, B
AU  - Tzountzouris, J
AU  - Casals, T
AU  - Krebsova, A
AU  - Koudova, M
AU  - Sakmaryova, I
AU  - Macek, M
AU  - Vavrova, V
AU  - Zemkova, D
AU  - Ginter, E
AU  - Petrova, NV
AU  - Ivaschenko, T
AU  - Baranov, V
AU  - Witt, M
AU  - Pogorzelski, A
AU  - Bal, J
AU  - Zekanowsky, C
AU  - Wagner, K
AU  - Stuhrmann, M
AU  - Bauer, I
AU  - Seydewitz, HH
AU  - Neumann, T
AU  - Jakubiczka, S
AU  - Kraus, C
AU  - Thamm, B
AU  - Nechiporenko, M
AU  - Livshits, L
AU  - Mosse, N
AU  - Tsukerman, G
AU  - Kadasi, L
AU  - Ravnik-Glavac, M
AU  - Glavac, D
AU  - Komel, R
AU  - Vouk, K
AU  - Kucinskas, V
AU  - Krumina, A
AU  - Teder, M
AU  - Kocheva, S
AU  - Efremov, GD
AU  - Onay, T
AU  - Kirdar, B
AU  - Malone, G
AU  - Schwarz, M
AU  - Zhou, ZQ
AU  - Friedman, KJ
AU  - Carles, S
AU  - Claustres, M
AU  - Bozon, D
AU  - Verlingue, C
AU  - Ferec, C
AU  - Tzetis, M
AU  - Kanavakis, E
AU  - Cuppens, H
AU  - Bombieri, C
AU  - Pignatti, PF
AU  - Sangiuolo, F
AU  - Jordanova, A
AU  - Kušić-Tišma, Jelena
AU  - Radojković, Dragica
AU  - Sertić, J
AU  - Richter, D
AU  - Rukavina, AS
AU  - Bjorck, E
AU  - Strandvik, B
AU  - Cardoso, H
AU  - Montgomery, M
AU  - Nakielna, B
AU  - Hughes, D
AU  - Estivill, X
AU  - Aznarez, I
AU  - Tullis, E
AU  - Tsui, LC
AU  - Zielenski, J
PY  - 2000
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/138
AB  - We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz.. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2.3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2.3(21 kb) homozygotes and a comparison of compound heterozygotes for Delta F508/CFTRdele2,3(21 kb) with pairwise-matched Delta F508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%). Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype: XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVSI7bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.
PB  - Springer, New York
T2  - Human Genetics
T1  - Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
EP  - 268
IS  - 3
SP  - 259
VL  - 106
DO  - 10.1007/s004390000246
ER  - 

@article{
author = "Dork, T and Macek, M and Mekus, F and Tummler, B and Tzountzouris, J and Casals, T and Krebsova, A and Koudova, M and Sakmaryova, I and Macek, M and Vavrova, V and Zemkova, D and Ginter, E and Petrova, NV and Ivaschenko, T and Baranov, V and Witt, M and Pogorzelski, A and Bal, J and Zekanowsky, C and Wagner, K and Stuhrmann, M and Bauer, I and Seydewitz, HH and Neumann, T and Jakubiczka, S and Kraus, C and Thamm, B and Nechiporenko, M and Livshits, L and Mosse, N and Tsukerman, G and Kadasi, L and Ravnik-Glavac, M and Glavac, D and Komel, R and Vouk, K and Kucinskas, V and Krumina, A and Teder, M and Kocheva, S and Efremov, GD and Onay, T and Kirdar, B and Malone, G and Schwarz, M and Zhou, ZQ and Friedman, KJ and Carles, S and Claustres, M and Bozon, D and Verlingue, C and Ferec, C and Tzetis, M and Kanavakis, E and Cuppens, H and Bombieri, C and Pignatti, PF and Sangiuolo, F and Jordanova, A and Kušić-Tišma, Jelena and Radojković, Dragica and Sertić, J and Richter, D and Rukavina, AS and Bjorck, E and Strandvik, B and Cardoso, H and Montgomery, M and Nakielna, B and Hughes, D and Estivill, X and Aznarez, I and Tullis, E and Tsui, LC and Zielenski, J",
year = "2000",
abstract = "We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz.. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2.3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2.3(21 kb) homozygotes and a comparison of compound heterozygotes for Delta F508/CFTRdele2,3(21 kb) with pairwise-matched Delta F508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%). Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype: XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVSI7bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.",
publisher = "Springer, New York",
journal = "Human Genetics",
title = "Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe",
pages = "268-259",
number = "3",
volume = "106",
doi = "10.1007/s004390000246"
}

Dork, T., Macek, M., Mekus, F., Tummler, B., Tzountzouris, J., Casals, T., Krebsova, A., Koudova, M., Sakmaryova, I., Macek, M., Vavrova, V., Zemkova, D., Ginter, E., Petrova, N., Ivaschenko, T., Baranov, V., Witt, M., Pogorzelski, A., Bal, J., Zekanowsky, C., Wagner, K., Stuhrmann, M., Bauer, I., Seydewitz, H., Neumann, T., Jakubiczka, S., Kraus, C., Thamm, B., Nechiporenko, M., Livshits, L., Mosse, N., Tsukerman, G., Kadasi, L., Ravnik-Glavac, M., Glavac, D., Komel, R., Vouk, K., Kucinskas, V., Krumina, A., Teder, M., Kocheva, S., Efremov, G., Onay, T., Kirdar, B., Malone, G., Schwarz, M., Zhou, Z., Friedman, K., Carles, S., Claustres, M., Bozon, D., Verlingue, C., Ferec, C., Tzetis, M., Kanavakis, E., Cuppens, H., Bombieri, C., Pignatti, P., Sangiuolo, F., Jordanova, A., Kušić-Tišma, J., Radojković, D., Sertić, J., Richter, D., Rukavina, A., Bjorck, E., Strandvik, B., Cardoso, H., Montgomery, M., Nakielna, B., Hughes, D., Estivill, X., Aznarez, I., Tullis, E., Tsui, L.,& Zielenski, J.. (2000). Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. in Human Genetics
Springer, New York., 106(3), 259-268.
https://doi.org/10.1007/s004390000246

Dork T, Macek M, Mekus F, Tummler B, Tzountzouris J, Casals T, Krebsova A, Koudova M, Sakmaryova I, Macek M, Vavrova V, Zemkova D, Ginter E, Petrova N, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zekanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz H, Neumann T, Jakubiczka S, Kraus C, Thamm B, Nechiporenko M, Livshits L, Mosse N, Tsukerman G, Kadasi L, Ravnik-Glavac M, Glavac D, Komel R, Vouk K, Kucinskas V, Krumina A, Teder M, Kocheva S, Efremov G, Onay T, Kirdar B, Malone G, Schwarz M, Zhou Z, Friedman K, Carles S, Claustres M, Bozon D, Verlingue C, Ferec C, Tzetis M, Kanavakis E, Cuppens H, Bombieri C, Pignatti P, Sangiuolo F, Jordanova A, Kušić-Tišma J, Radojković D, Sertić J, Richter D, Rukavina A, Bjorck E, Strandvik B, Cardoso H, Montgomery M, Nakielna B, Hughes D, Estivill X, Aznarez I, Tullis E, Tsui L, Zielenski J. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. in Human Genetics. 2000;106(3):259-268.
doi:10.1007/s004390000246 .

Dork, T, Macek, M, Mekus, F, Tummler, B, Tzountzouris, J, Casals, T, Krebsova, A, Koudova, M, Sakmaryova, I, Macek, M, Vavrova, V, Zemkova, D, Ginter, E, Petrova, NV, Ivaschenko, T, Baranov, V, Witt, M, Pogorzelski, A, Bal, J, Zekanowsky, C, Wagner, K, Stuhrmann, M, Bauer, I, Seydewitz, HH, Neumann, T, Jakubiczka, S, Kraus, C, Thamm, B, Nechiporenko, M, Livshits, L, Mosse, N, Tsukerman, G, Kadasi, L, Ravnik-Glavac, M, Glavac, D, Komel, R, Vouk, K, Kucinskas, V, Krumina, A, Teder, M, Kocheva, S, Efremov, GD, Onay, T, Kirdar, B, Malone, G, Schwarz, M, Zhou, ZQ, Friedman, KJ, Carles, S, Claustres, M, Bozon, D, Verlingue, C, Ferec, C, Tzetis, M, Kanavakis, E, Cuppens, H, Bombieri, C, Pignatti, PF, Sangiuolo, F, Jordanova, A, Kušić-Tišma, Jelena, Radojković, Dragica, Sertić, J, Richter, D, Rukavina, AS, Bjorck, E, Strandvik, B, Cardoso, H, Montgomery, M, Nakielna, B, Hughes, D, Estivill, X, Aznarez, I, Tullis, E, Tsui, LC, Zielenski, J, "Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe" in Human Genetics, 106, no. 3 (2000):259-268,
https://doi.org/10.1007/s004390000246 . .