Cristina Skrypnyk

Universitatea din Oradea, Facultatea de Medicina, Departamentul de Genetica, Oradea, .

E-mail: trimite un mesaj.

Nascut(a) in: 1972

Interese: genetica umana

Detalii:
Medic primar, Genetica Medicala
asistent universitar; doctor in stiinte medicale
Domeniii de interes
-anomaliile cromozomiale
-sindroamele de contiguitate genica
-bolile genetice rare

Details:
-MD, PhD;Medical Genetics

Research interest:
-chromosomal abnormalities
-contiguous genes syndromes
-rare genetics disorders

Publicații selectate:

* V. Filip, C. Skrypnyk, E. Popescu. , 10. „A retrospective study of neural tube defects”. , European Human Genetics Conference 23-26 May 2009, Vienna, Austria. In European Journal of Human Genetics, Vol 17, Supplement 2,, 2009.

* C. Skrypnyk, M. Bembea, C. Jurca, C. Liveratou, D. Smeets, 9. „Cardiovascular spectrum in Williams Beuren syndrome”., European Human Genetics Conference 23-26 May 2009, Vienna, Austria. In European Journal of Human Genetics, Supplement 2, Vol 17, 2009.

* C Skrypnyk, M. Bembea,V Bica, C. Rusu, C. Jurca, W. Kress, A. Baumer., „From phenotype to mosaic paternal UPD11p15 in Beckwith Wiedeman Syndrome”, European Journal of Human Genetics- Conference 31 May-3 June 2008, Barcelona, Spain., Vol 16, Suppl 2, 2008.

* C. Skrypnyk, M. Bembea, C. Jurca, E. Neagu, D. Iancu, L. Barbarii, C. Rusu., „Screening for subtelomeric rearrangements by multiplex ligation-dependent probe amplification (MLPA) in 30 patients with mental retardation.”, Genomic Disorders 2008, Wellcome Trust Conference Centre, Hinxton, Cambridge, UK, 17-20 march 2008., 2008.

* C. Skrypnyk, M. Bembea, C. Jurca, E. Neagu, D. Iancu, L. Barbarii, C. Rusu, MLPA for the detection of cryptic subtelomeric rearrangements in mental retardation patients- cases report., Chromosome Research, 6th European Cytogenetics Conference, Istanbul, Turkey, volume 15, suppliment 1, 2007.

* C. Skrypnyk, M. Bembea, V. Belengeanu, E. Tomescu, P. Grigorescu Sido, I. Pascanu, M. Covic, Importance of the minor criteria for a positive clinical diagnosis of Prader Willi syndrome patients, 6th International Prader-Willi Syndrome Scientific Conference, 1st Romanian Rare Diseases Conference, Cluj-Napoca, Romania., 2007.

* Cristina Skrypnyk, Genetics test across borders, 6th International Prader-Willi Syndrome Scientific Conference, 1st Romanian Prader-Willi Syndrome and Rare Diseases Conference, Cluj Napoca, Romania, 2007.

* C. Skrypnyk, M. Bembea, C. Rusu, M. Volosciuc, M. Gramescu, M. Covic, D. Smeets, O. Bartsch., Williams Syndrome - observing the phenotype and understanding the genotype, Genomic Disorders 2007, Wellcome Trust Genome Conference, Hinxton, Cambridge, UK., 2007.

* C. Skrypnyk, M. Bembea, V. Belengeanu, E. Tomescu, P. Grigorescu Sido, M. Covic., Genetic counselling in microdeletions syndromes, The 7th Course Genetic Counselling in Practice, Bertinoro, Italye, European School of Genetic Medicine, 2006.

* C. Skrypnyk, M. Bembea, O. Bartsch, C. Aulehla-Scholz, W. Kress, Prader-Willi Syndrome: clinical and molecular particular aspects, Fostering Research on Rare Diseases in Eastern European Countries, 2006.

* C. Skrypnyk, O. Bartsch, M. Bembea, V. Filip, I. I. Vancsik, A particular case of syndromatic ichtyosis ., European Journal of Human Genetics, volume 14, supplement 1, 2006.

* C. Skrypnyk, M. Bembea, O. Vancsik, M. Barbu, C. Barbu. -, "Hereditary multiple exostoses disease- clinical and genetical aspects", European Conference of Human Genetics, Prague, 9-11 May, 2005, European Journal of Human Genetics,, volume 13, supplement 1, 2005.

* Zhu G, Bartsch O, Skrypnyk C, Rotondo A, Akhtar LA, Harris C, Virkkunen M, Cassano G, Goldman D., "Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations"., Eur J Hum Genet., Jun;12(6), 2004.

* Skrypnyk C, Goecke TO, Majewski F, Bartsch O, "Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies"., Am J Med Genet, Nov 22;113(2), 2002.

* Skrypnyk C, Bartsch O., • “Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14”., Am J Med Genet., Feb 1; 124A(4), 2004.