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V Anastasovska and M Kocova

individual with congenital adrenal hyperplasia. EMBO J 1987; 6(6): 1653-1661. Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romana region. Clin Endocrinol 2000; 53(1): 117-125. Charmandari E, Eisenhofer G, Mehlinger SL, Carlson A, Wesley R, Keil MF, Chrousos GP, New MI, Merke DP. Adrenomedullary function may predict phenotype and

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Zamin S. Siddiqui, Jung-Il Cho, Sung-Han Park, Taek-Ryoun Kwon, Gang-Seob Lee, Mi-Jeong Jeong, Kyung-Whan Kim, Seong-Kon Lee and Soo-Chul Park

, G. N., 2000: Chlorophyll fluorescence - a practical guide. Journal of Experimental Botany 51, 659-668. MERLOT, S.,MUSTILLI, A. C., GENTY, B., NORTH, H., LEFEBVRE, V., SOTTA, B., VAVASSEUR, A., GIRAUDAT, J., 2002: Use of infrared thermal imaging to isolate Arabidopsis mutants defective in stomatal regulation. The Plant Journal 30, 601-609. MUNNS, R., JAMES, R. A., SIRAULT, X. R. R., FURBANK, R. T., JONES, H. G., 2010: New phenotyping methods for screening wheat and barley for beneficial responses to water deficit. Journal of

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Hamit Yasar Ellidag, Esin Eren, Ozgur Aydin, Salim Neselioglu and Necat Yilmaz

: the potential role of paraoxonase (PON1). Environ Health Perspect 2005; 113(7): 909-13. 18. Arpaci A, Gormus U, Dalan B, Berkman S, Isbir T. Inves - tigation of PON1 192 and PON1 55 polymorphisms in ovarian cancer patients in Turkish population. In Vivo 2009; 23(3): 421-4. 19. Eckerson HW, Wyte MC, LaDu BN. The human serum paraoxonase/arylesterase polymorphism. Am J Hum Genet 1983; 35: 1126-38. 20. Haagen L, Brock A. A new automated method for phenotyping arylesterase (E.C.3.1.1.2.) based upon inhibi tion of enzymatic

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Ioana Todor, Dana Muntean, Maria Neag, Corina Bocsan, Anca Buzoianu, Laurian Vlase, Daniel Leucuta, Ana-Maria Gheldiu, Adina Popa and Corina Briciu

polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J. 2005;5:6-13. 14. Brown JT, Bishop JR. Atomoxetine pharmacogenetics: associations with pharmacokinetics, treatment response and tolerability. Pharmacogenomics. 2015;16(13):1513-20. 15. LLerena A, Naranjo MEG, Rodrigues-Soares F, Penas-LLedo EM, Farinas H, Tarazona-Santos E. Interethnic variability of CYP2D6 alleles and of predicted and measured metabolic phenotypes across world populations. Expert Opin Drug

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Rogério Parentoni Martins, Rosana Tidon and José Alexandre Felizola Diniz-Filho

, A., McCleery, R.H., Cole, L.R., Perrins, C., Kruuk, L.E.B. & Sheldon, B.C. (2008) Adaptive phenotypic plasticity in response to climate change in a wild bird population. Science, 320, 800-803. Clark, W.E & Martins, R.P. (1987) Anthonomus biplagiatus Redentbach (Coleoptera: Curculionidae), a Brazilian weevil associated with Kielmeyera (Guttiferae). Coleopterist Bulletin, 41, 157-164. Cobb, J.N., DeClerck, G., Greenberg, A., Clark, R. & McCouch, S. (2013) Next-generation phenotyping: requirements and strategies for enhancing our

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Tatjana Isailovic, Ivana Milicevic, Djuro Macut, Milan Petakov, Sanja Ognjanovic, Bojana Popovic, Ivana Bozic Antic, Tamara Bogavac, Valentina Elezovic Kovacevic, Dusan Ilic and Svetozar Damjanovic

Endocrine Neoplasia Type 1 Syndrome: What’s New and What’s Old. F1000 Research 2017; 6. 7. Lim LC, Tan MH, Eng C, Teh BT, Rajasoorya RC. Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. J Intern Med 2006; 259(4): 428–32. 10.1111/j.1365-2796.2006.01619.x 8. Bartsch DK, Langer P, Wild A, Schilling T, Celik I, Rothmund M, et al. Pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1: surgery or surveillance? Surgery 2000; 128(6): 958–66. 9. Thevenon J, Bourredjem A, Faivre L, Cardot

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Tatjana Isailovic, Ivana Milicevic, Djuro Macut, Milan Petakov, Sanja Ognjanovic, Bojana Popovic, Ivana Bozic Antic, Tamara Bogavac, Valentina Elezovic Kovacevic, Dusan Ilic and Svetozar Damjanovic

Research 2017; 6. 7. Lim LC, Tan MH, Eng C, Teh BT, Rajasoorya RC. Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. J Intern Med 2006; 259(4): 428–32. 8. Bartsch DK, Langer P, Wild A, Schilling T, Celik I, Rothmund M, et al. Pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1: surgery or surveillance? Surgery 2000; 128(6): 958–66. 9. Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Murat A, et al. Higher risk of death among MEN1 patients with mutations in the JunD

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F Battal, F Silan, N Topaloğlu, H Aylanç, Ş Yıldırım, F Köksal Binnetoğlu, M Tekin, N Kaymaz and O Ozdemir

48 (80.0)  untreated 12 (20.0) FMF: familial Mediterranean fever; MEFV gene: Mediterranean fever gene. Table 2 Frequency of common clinical manifestations related to the 12 pathogenic variant types in the presented cases and gen-otype-phenotype correlation in patients with familial Mediterranean fever according to the method of Mor et al . [ 11 ]. FMF Patients Clinical Characteristics Erythema Fever Abdominal Pain Arthritis Mutation Type n % n With (%) Total (%) n With (%) Total

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Alexander Rehders, Stefan Hosch, Nikolaus Stoecklein, Peter Scheunemann, Matthias Peiper and Wolfram Knoefel

Metastatic Phenotype of Disseminated Nodal Tumor Cells in Esophageal Cancer

The prognostic relevance of disseminated nodal tumor cells has been demonstrated by several groups. However, their biological behaviour still remains unclear.

The aim of the study. Analyse the phenotypic characteristics of disseminated tumor cells in lymph nodes.

Material and methods. We established an immuno-enzymatic immuno-gold double-staining technique to simultaneously identify an epithelial antigen as well as the co-expression of plakoglobin, HLA class-I, ICAM-I and Ki-67 on isolated tumor cells. Epithelial cells were marked by the monoclonal antibody Ber-EP4. These results were compared with the corresponding primary tumors.

Results. Loss of HLA class-I expression on Ber-EP4+ cells was observed in 33.3% of the patients. ICAM-I neo-expression was detected in 46%, whereas 54% of the cases were ICAM-1 negative. Plakoglobin was expressed in 16% while Ki-67 was detectable only in 5% of the patients. Comparison with the corresponding primary tumors revealed phenotypic alterations of the disseminated cells. In 20% of the cases HLA class-I down-regulation was found, while in 38% plakoglobin was not detectable. In contrast to the primary tumors with a proliferation index of 39%, the nodal Ber-EP4+ cells appeared to be Ki-67 negative in 95% of the patients.

Conclusions. Our phenotypic analysis demonstrates that Ber-EP4+ cells in lymph nodes not only display characteristics typical of malignant cells but also phenotypic alterations, in comparison with primary tumors. This is indicative of a selective process which might result in adapted metastatic phenotypes.

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Danica Labudovic, Katerina Tosheska-Trajkovska and Sonja Alabakovska

, Alabakovska S, et al. Lipoprotein( a) and apolipoprotein(a) phenotypes in healthy Macedonian children. Bratisl Lek Listy 2007; 108(4-5): 179-183. 7. Labudovic D, Toseska Trajkovska K, Alabakovska S, et al. Lipoprotein(a) and lipid status in ESRD patients on hemodialysis. MMP 2007; (1-3): 16-20. 8. Albers JJ, Koschinski ML, Marcovina SM. Evidence mounts for a role of the kidney in lipoprotein(a) catabolism. Kidney Int 2007; 71(10): 961-962. 9. Shojaei MH, Djelali M, Siassi F, et al. Serum levels of lipoprotein( a) and