TY  - CONF
AU  - Stojiljković, Maja
AU  - Jovanović, J.
AU  - Đorđević, M.
AU  - Grković, S.
AU  - Cvorkov-Drazić, M.
AU  - Petručev, Branka
AU  - Tošić, Nataša
PY  - 2007
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/267
PB  - Blackwell Publishing, Oxford
C3  - FEBS Journal
T1  - Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro
EP  - 287
SP  - 287
VL  - 274
UR  - https://hdl.handle.net/21.15107/rcub_imagine_267
ER  - 

@conference{
author = "Stojiljković, Maja and Jovanović, J. and Đorđević, M. and Grković, S. and Cvorkov-Drazić, M. and Petručev, Branka and Tošić, Nataša",
year = "2007",
publisher = "Blackwell Publishing, Oxford",
journal = "FEBS Journal",
title = "Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro",
pages = "287-287",
volume = "274",
url = "https://hdl.handle.net/21.15107/rcub_imagine_267"
}

Stojiljković, M., Jovanović, J., Đorđević, M., Grković, S., Cvorkov-Drazić, M., Petručev, B.,& Tošić, N.. (2007). Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. in FEBS Journal
Blackwell Publishing, Oxford., 274, 287-287.
https://hdl.handle.net/21.15107/rcub_imagine_267

Stojiljković M, Jovanović J, Đorđević M, Grković S, Cvorkov-Drazić M, Petručev B, Tošić N. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. in FEBS Journal. 2007;274:287-287.
https://hdl.handle.net/21.15107/rcub_imagine_267 .

Stojiljković, Maja, Jovanović, J., Đorđević, M., Grković, S., Cvorkov-Drazić, M., Petručev, Branka, Tošić, Nataša, "Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro" in FEBS Journal, 274 (2007):287-287,
https://hdl.handle.net/21.15107/rcub_imagine_267 .

TY  - JOUR
AU  - Pavlović, Sonja
AU  - Urosević, J
AU  - Poznanić, J
AU  - Perisić, LJ
AU  - Petručev, Branka
AU  - Tošić, Nataša
AU  - Krivokapić-Dokmanović, L
AU  - Janić, D
AU  - Cvorkov-Drazić, M
AU  - Bunjevacki, G
PY  - 2005
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/226
AB  - This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight beta-thalassemia mutations [codon 39 (C - gt  T), IVS-I-110 (G - gt  A), IVS-II-745 (C - gt  G), codon 44 (-C), -87 (C - gt  G), IVS-II-1 (G - gt  A), IVS-I-6 (T - gt  C), IVS I-1 (G - gt  A)] in 70 members of 29 families using polymerase chain reaction, reverse dot blot, amplification refractory mutation system and direct sequencing analysis. Hemoglobin (Hb) Lepore was found to be the most common cause of the thalassemia phenotype. Hb Sabine and alpha-thalassemia were detected as well. We also studied beta-globin gene cluster haplotypes and their association with the most common mutations. A novel haplotype associated with the Hb Lepore gene was identified. The results presented herein allowed the implementation of a prenatal diagnosis program in Serbia and Montenegro.
PB  - Karger, Basel
T2  - Acta Haematologica
T1  - Molecular basis of Thalassemia syndromes in Serbia and Montenegro
EP  - 180
IS  - 3
SP  - 175
VL  - 113
DO  - 10.1159/000084447
ER  - 

@article{
author = "Pavlović, Sonja and Urosević, J and Poznanić, J and Perisić, LJ and Petručev, Branka and Tošić, Nataša and Krivokapić-Dokmanović, L and Janić, D and Cvorkov-Drazić, M and Bunjevacki, G",
year = "2005",
abstract = "This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight beta-thalassemia mutations [codon 39 (C - gt  T), IVS-I-110 (G - gt  A), IVS-II-745 (C - gt  G), codon 44 (-C), -87 (C - gt  G), IVS-II-1 (G - gt  A), IVS-I-6 (T - gt  C), IVS I-1 (G - gt  A)] in 70 members of 29 families using polymerase chain reaction, reverse dot blot, amplification refractory mutation system and direct sequencing analysis. Hemoglobin (Hb) Lepore was found to be the most common cause of the thalassemia phenotype. Hb Sabine and alpha-thalassemia were detected as well. We also studied beta-globin gene cluster haplotypes and their association with the most common mutations. A novel haplotype associated with the Hb Lepore gene was identified. The results presented herein allowed the implementation of a prenatal diagnosis program in Serbia and Montenegro.",
publisher = "Karger, Basel",
journal = "Acta Haematologica",
title = "Molecular basis of Thalassemia syndromes in Serbia and Montenegro",
pages = "180-175",
number = "3",
volume = "113",
doi = "10.1159/000084447"
}

Pavlović, S., Urosević, J., Poznanić, J., Perisić, L., Petručev, B., Tošić, N., Krivokapić-Dokmanović, L., Janić, D., Cvorkov-Drazić, M.,& Bunjevacki, G.. (2005). Molecular basis of Thalassemia syndromes in Serbia and Montenegro. in Acta Haematologica
Karger, Basel., 113(3), 175-180.
https://doi.org/10.1159/000084447

Pavlović S, Urosević J, Poznanić J, Perisić L, Petručev B, Tošić N, Krivokapić-Dokmanović L, Janić D, Cvorkov-Drazić M, Bunjevacki G. Molecular basis of Thalassemia syndromes in Serbia and Montenegro. in Acta Haematologica. 2005;113(3):175-180.
doi:10.1159/000084447 .

Pavlović, Sonja, Urosević, J, Poznanić, J, Perisić, LJ, Petručev, Branka, Tošić, Nataša, Krivokapić-Dokmanović, L, Janić, D, Cvorkov-Drazić, M, Bunjevacki, G, "Molecular basis of Thalassemia syndromes in Serbia and Montenegro" in Acta Haematologica, 113, no. 3 (2005):175-180,
https://doi.org/10.1159/000084447 . .

TY  - JOUR
AU  - Pavlović, Sonja
AU  - Kuzmanović, M
AU  - Urosević, J
AU  - Poznanić, J
AU  - Zoranović, T
AU  - Đorđević, Valentina
AU  - Rasović, N
AU  - Bunjevacki, G
AU  - Cvorkov-Drazić, M
AU  - Colović, M
PY  - 2004
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/197
AB  - Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG -- gt  CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of Ggamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.
PB  - Wiley, Hoboken
T2  - European Journal of Haematology
T1  - Severe central nervous system thrombotic events in hemoglobin Sabine patient
EP  - 70
IS  - 1
SP  - 67
VL  - 72
DO  - 10.1046/j.0902-4441.2004.00174.x
ER  - 

@article{
author = "Pavlović, Sonja and Kuzmanović, M and Urosević, J and Poznanić, J and Zoranović, T and Đorđević, Valentina and Rasović, N and Bunjevacki, G and Cvorkov-Drazić, M and Colović, M",
year = "2004",
abstract = "Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG -- gt  CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of Ggamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.",
publisher = "Wiley, Hoboken",
journal = "European Journal of Haematology",
title = "Severe central nervous system thrombotic events in hemoglobin Sabine patient",
pages = "70-67",
number = "1",
volume = "72",
doi = "10.1046/j.0902-4441.2004.00174.x"
}

Pavlović, S., Kuzmanović, M., Urosević, J., Poznanić, J., Zoranović, T., Đorđević, V., Rasović, N., Bunjevacki, G., Cvorkov-Drazić, M.,& Colović, M.. (2004). Severe central nervous system thrombotic events in hemoglobin Sabine patient. in European Journal of Haematology
Wiley, Hoboken., 72(1), 67-70.
https://doi.org/10.1046/j.0902-4441.2004.00174.x

Pavlović S, Kuzmanović M, Urosević J, Poznanić J, Zoranović T, Đorđević V, Rasović N, Bunjevacki G, Cvorkov-Drazić M, Colović M. Severe central nervous system thrombotic events in hemoglobin Sabine patient. in European Journal of Haematology. 2004;72(1):67-70.
doi:10.1046/j.0902-4441.2004.00174.x .

Pavlović, Sonja, Kuzmanović, M, Urosević, J, Poznanić, J, Zoranović, T, Đorđević, Valentina, Rasović, N, Bunjevacki, G, Cvorkov-Drazić, M, Colović, M, "Severe central nervous system thrombotic events in hemoglobin Sabine patient" in European Journal of Haematology, 72, no. 1 (2004):67-70,
https://doi.org/10.1046/j.0902-4441.2004.00174.x . .

TY  - JOUR
AU  - Urosević, J.
AU  - Đureinović, T.
AU  - Poznanić, J.
AU  - Cvorkov-Drazić, M.
AU  - Bunjevacki, G.
AU  - Janić, D.
AU  - Krivokapić-Dokmanović, L.
AU  - Popović, Z.
AU  - Pavlović, Sonja
PY  - 2001
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/152
AB  - Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients' DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base substitution within the second intervening sequence [IVS-II-74 (G→T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity represent additional data for the probable Balkan origin of this mutation.
PB  - Macedonian Academy Of Sciences And Arts
T2  - Balkan Journal of Medical Genetics
T1  - Homogeneity of the Hb Lepore gene in FR Yugoslavia
EP  - 32
IS  - 1-2
SP  - 29
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_152
ER  - 

@article{
author = "Urosević, J. and Đureinović, T. and Poznanić, J. and Cvorkov-Drazić, M. and Bunjevacki, G. and Janić, D. and Krivokapić-Dokmanović, L. and Popović, Z. and Pavlović, Sonja",
year = "2001",
abstract = "Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients' DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base substitution within the second intervening sequence [IVS-II-74 (G→T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity represent additional data for the probable Balkan origin of this mutation.",
publisher = "Macedonian Academy Of Sciences And Arts",
journal = "Balkan Journal of Medical Genetics",
title = "Homogeneity of the Hb Lepore gene in FR Yugoslavia",
pages = "32-29",
number = "1-2",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_152"
}

Urosević, J., Đureinović, T., Poznanić, J., Cvorkov-Drazić, M., Bunjevacki, G., Janić, D., Krivokapić-Dokmanović, L., Popović, Z.,& Pavlović, S.. (2001). Homogeneity of the Hb Lepore gene in FR Yugoslavia. in Balkan Journal of Medical Genetics
Macedonian Academy Of Sciences And Arts., 4(1-2), 29-32.
https://hdl.handle.net/21.15107/rcub_imagine_152

Urosević J, Đureinović T, Poznanić J, Cvorkov-Drazić M, Bunjevacki G, Janić D, Krivokapić-Dokmanović L, Popović Z, Pavlović S. Homogeneity of the Hb Lepore gene in FR Yugoslavia. in Balkan Journal of Medical Genetics. 2001;4(1-2):29-32.
https://hdl.handle.net/21.15107/rcub_imagine_152 .

Urosević, J., Đureinović, T., Poznanić, J., Cvorkov-Drazić, M., Bunjevacki, G., Janić, D., Krivokapić-Dokmanović, L., Popović, Z., Pavlović, Sonja, "Homogeneity of the Hb Lepore gene in FR Yugoslavia" in Balkan Journal of Medical Genetics, 4, no. 1-2 (2001):29-32,
https://hdl.handle.net/21.15107/rcub_imagine_152 .