Pubblications
UNIBO Alma Mater Studiorum - Università di Bologna, Italy
1) FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. C. Garone, T.Pippucci, D. M. Cordelli, R. Zuntini, G. Castegnaro, C. Marconi, C. Graziano, V. Marchiani, A. Verrotti, M. Seri, E. Franzoni DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY In press.
2) Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Am J Hum Genet. 2009 Sep;85(3):394-400.
Posters :
1) Is CADPS2 involved in autism and intellectual disability? G. Tortora1, C. Graziano1, S. Miccoli1, E. Bacchelli2, F. Minopoli1, A. Battaglia3, L. Mazzone4, G. Romeo1, E. Maestrini2, E. Bonora1; 1U.O. Genetica Medica, Policlinico S.Orsola-Malpighi, Università di Bologna, Bologna, Italy, 2Dipartimento di Biologia Evoluzionistica Sperimentale, Università di Bologna, Bologna, Italy, 3Stella Maris Istituto Scientifico per la Neuropsichiatria dell'Infanzia e dell'Adolescenza, Calambrone (Pisa), Italy, 4U.O. Neuropsichiatria Infantile, Dipartimento di Pediatria, Università di Catania, Catania, Italy, ESHG meeting, Amsterdam 2011.
2) CHERISH - Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics .
C. Graziano, E. Bonora, P. Magini, J. Baptista, G. Tortora, S. Miccoli, P. C. Patsalis, J. A. Hettinger, V. Anastasiadou, L. Kousoulidou, A. Kurg, K. Männik, S. Parkel, O. Zilina, M. Nõukas, E. Õiglane-Slik, V. Kučinskas, J. Kasnauskienè, I. Lebedev, A. Latos-Bieleńska, M. Badura-Stronka, B. Budny, Z. Sedlacek, M. Havlovicova, M. Vlckova, M. Hancarova, T. Sarkisian, D. Babikyan, S. Midyan, L. A. Livshits, A. Cuppoletti, G. Romeo. ESHG Meeting, Goteborg 2010.
3) Independent patients with an identical 9q31.1q31.3 deletion showing similar clinical features: a new microdeletion syndrome? Marozza A, Magini P, Mari F, Miccoli S, Mencarelli MA, Romeo G, Hayek G, Tavalazzi F, Contini P, Seri M, Renieri A, Graziano C. ESHG Meeting, Vienna 2009.
Tartu Uelikool UTARTU, Estonia
1) Genomic aberrations in relation to unexplained mental retardation in Estonian patients.
K. Männik, S. Parkel, O. Zilina, P. Palta, H. Puusepp, A. Veidenberg, K. Õunap, A. Kurg. 14th International Workshop on Fragile X and X-linked Mental Retardation, Sept. 15-19, 2009, Salvador, Brazil Novel cryptic genomic aberrations associated with mental retardation. K. Männik, S. Parkel, O. Žilina, M. Nõukas, P. Palta, T. Esko, H. Puusepp, M. Remm, K. Õunap, A. Kurg. European Human Genetics Conference 2010, - June 12 - 15, 2010, Gothenburg, Sweden DHMGVU Vilnius University, Lithuania.
2) Structural rearrangements of chromosome 8p23.1-p23.3 related to mental retardation. V.Dirsė, Ž.Čiuladaitė, A.Utkus, A.Kurg3, V.Kucinskas. European Human Genetics Conference 2010, Gothenburg, Sweden - June 12 - 15, 2010, poster presentation.
3) Mental retardation in a patient with 14q32.33 and 19p13.3 microdeletions characterized using array-based CGH. E.Preikšaitienė, L.Cimbalistienė, P.Magini, V.Kučinskas. European Human Genetics Conference 2010, Gothenburg, Sweden - June 12 - 15, 2010, poster presentation.
4) Genome-wide detection of CNVs in Lithuanian patients with mental retardation. V. Kucinskas1,2, V. Dirse1, A. Utkus1,2, E.Preiksaitiene1, K. Männik3, A. Kurg3. ASHG Annual Meeting 2010, Washington, November 2-6, poster presentation.
5) Detection of genomic imbalances in chromosome 11 in three children with mental retardation. V. Dirsė1, E.Preikšaitienė1, Ž.Čiuladaitė1,2, A.Matulevičienė1,2, B.Tumienė1,2, K. Männik3, V. Kučinskas1,2, A. Kurg3. The 1st OpenGENE Workshop on functional genomics and complex phenotypes in the Baltic Region “GWAS: from genotyping to sequencing”, August 22-26 2010, Tartu, Estonia, poster presentation.
Uniwersytet Medyczny im. Karola Marcinkowskego w Poznaniu PUMS, Poland
1) FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z.. Am J Med Genet A. 2010 May;152A(5):1273-7.
2) Molecular genetic analysis of a new case of interstitial deletion of proximal chromosome 6q. Tan Y., Vlckova M., Raskova D., Trkova M., Sedlacek Z: (poster). International Medical Students´ Research Congress 2009, Istanbul, Turkey, May 8-10, 2009.
3) A new case of proximal interstitial deletion of 6q analysed using array CGH. Vlckova M., Raskova D., Trkova M., Zemanova Z., Tan Y., Sedlacek Z: (poster). European Human Genetics Conference 2009, Vienna, Austria, May 23-26, 2009.
4) FMR1 gene expansion, large deletion of Xp and skewed X-inactivation in a girl with autism and mentalretardation. A. Vazna, Z. Musova, M. Vlckova, D. Novotna, L. Dvorakova, M. Hrdlicka, M. Havlovicova, Z. Sedlacek: (poster). 7th European Cytogenetics Conference, Stockholm, Sweden, July 4-7, 2009.
5) FMR1 gene expansion, large deletion of Xp and skewed X-inactivation in a girl with MR and autism. M. Havlovicova, A. Vazna, Z. Musova, M. Vlckova, D. Novotna, L. Dvorakova, M. Hrdlicka, Z. Sedlacek: (poster). 14th International Workshop on Fragile X and X-Linked MR, Praia do Forte, Brazil, Sept 15 -19, 2009.
6) Complex glycerol kinase deficiency in a patient with psychomotor retardation: molecular analysis andcomparison to published data. M. Hančárová, M. Vlčková, P. Hedvičáková, D. Novotná, Š. Vejvalková, Z. Sedláček: (poster). 20th Izakovic Memorial Meeting, Terchová, Slovakia, October 8-9, 2009.
7) Genotype-phenotype correlation and mechanism of aberration in two patients with proximal 6q deletioncharacterised using FISH, mBAND and aCGH. M. Vlčková, M. Trková, Z. Zemanová, D. Novotná, D. Rašková, A. Puchmajerová, M. Hančárová, Y. Tan, Z. Sedláček: (poster). 20th Izakovic Memorial Meeting, Terchová, Slovakia, October 8-9, 2009.
8) Detailed analysis of chromosome rearrangements in patients with autism and mental retardation. Z. Sedlacek, M. Vlckova, M. Hancarova, J. Drabova, Z. Zmitkova, P. Hedvicakova, D. Novotna, M. Trkova,Z. Zemanova, M. Palanova, R. Mihalova, A. Baxova, A. Puchmajerova, J. Djakow, D. Raskova,S. Vejvalkova, M. Simandlova, R. Alanova (poster). 4th ESF Conference on Functional Genomics and Disease, Dresden, Germany, April 14-17, 2010.
9) Balanced and unbalanced forms of transmission of a complex chromosomal rearrangement involving chromosomes 3, 8 and 10 in two generations. Zmitkova Z., Simandlova M., Vlckova M., Baxova A., Drabova J., Novotna D., Vlckova Z., Zemanova Z., Kocarek E., Sedlacek Z. (poster). European Human Genetics Conference 2010, Gothenburg, Sweden, June 12-15, 2010.
10) Complex glycerol kinase deficiency in a patient with psychomotor retardation: molecular analysis and comparison to published data. Miroslava Hančárová, Markéta Vlčková, Petra Hedvičáková, Drahuše Novotná, Zdeňka Vlčková, Šárka Vejvalková, Zdeněk Sedláček. (poster). European Human Genetics Conference 2010, Gothenburg, Sweden, June 12-15, 2010.
11) MECP2 gene duplication in a Czech family with four affected boys. Simandlová M., Vlčková M., Hedvičáková P., Hančárová M., Vážna A., Sedláček Z., Havlovicová M. (poster). European Human Genetics Conference 2010, Gothenburg, Sweden, June 12-15, 2010.
12) Duplications 20p and 3q as a consequence of familial complex chromosomal rearrangement. Drabova Jana, Puchmajerova Alena, Novotna Drahuse, Vlckova Zdenka, Zmitkova Zuzana, Sedlacek Zdenek. (poster). European Human Genetics Conference 2010, Gothenburg, Sweden, June 12-15, 2010.
Institute of Medical Genetics (IMG)
Russian Academy of Medical Sciences, Tomsk Scientific Centre
Cytogenetics Laboratory
Prof. Igor Lebedev (Team Leader)
1) Clinical aspects of intellectual disorders // Molecular biological technologies in medical practice. Nazarenko L.P., Nazarenko M.S. Novosibirsk.: Alfa-Vista. 2009. V. 13. P. 139-163.