Amenta-Kyriazi Stella PEDIATRICIAN Head of Clinical Genetics Department

• European Society of Human Genetics
• Hellenic Pediatric Society
• Hellenic Society of Medical Geneticists (General Secretary)
• Athens Medical Association

• 2009-today  Clinical Genetics outpatient clinic
• 1999-today   Private practice in pediatrics

Clinical interest:

• Pediatrics and Genetics

Research interest:

• Genetics

• 1985-1987 National Scholarship Programm
• 2004 Β’ Choremio Award – 42ο Panhellenic Pediatric Congress

Williams Syndrome: Guidelines and long term follow up

• Fryssira H, et al: Cantu syndrome associated with ovarian agenesis, Molecular Syndromology, in press
• Fryssira H, Tsoutsou E, Psoni S, Amenta S, ……..Chaliasos N: Partial Monosomy 14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay, Mol Cytogenet 2016, Aug 2
• Helen Fryssira, Stella Amenta, Deniz Kanber,……..Karin Buiting: A novel large deletion of the ICR1 region including H19 and putative enhancer elements, BMC Medical Genetics, 2015
• Fryssira H, Kakourou T, Valari M, Stefanaki K, Amenta S, Kanavakis E.: “Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene”. Acta Paediatr. 2011 Jan; 100(1):128-33.
• Howald C, Merla G, Digilio MC, Amenta S, Lyle R, Deutsch S, Choudhury U, Bottani A, Antonarakis SE, Fryssira H, Dallapiccola B, Reymond A. “Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions”. J Med Genet. 2006 Mar; 43(3):266-73. Epub 2005 Jul 1.
• S Amenta, C Sofocleous, A Kolialexi, L Thomaidis, S Giouroukos, E Karavitakis, A Mavrou, S Kitsiou, E Kanavakis, and H Fryssira : “Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population”. Pediatr Res. 2005 Jun; 57(6):789-95. Epub 2005 Mar 17.
• Xekouki S,Fryssira H, Maniati-Christidi M, Amenta S, Karavitakis E, Kanaka-Gantenbein C, Dakou- Voutetakis C: “Growth Hormone Deficiency in a Child with Williams-Beuren Syndrome. The Response to Growth Hormone Therapy”. Journal of Pediatric Endocrinology & Metabolism 2005, 18 (2): 205-207.
• Amenta S, Moschovi M, Sofocleous C, Kostaridou S, Mavrou A, Fryssira H: “Non–Hodgkin lymphoma in a child with Williams syndrome”. Cancer Genet and Cytogenet, 2004, 154(1)86-88.
• Hasan AA., Amenta S., Schmaier AH: “Bradykinin and its metabolite, Arg-Pro-Pro-Gly-Phe, are selective inhibitors of alpha –thrombin induced platelet activation”, Circulation, 1996; 94(3):517-528.
• Gluszko P.,Undas A., Amenta S., Szczeklik A., Schmaier AH: “Administration of gamma interferon in human subjects decreases plasminogen activation and fibrinolysis without influencing C1 inhibitor”, JLab Clin Med 1994, 123(2):232-40
• Schmaier A.H., Amenta S., Xiong T., Heda G.D., Gewirtz A.M: “Expression of Platelet C1 Inhibitor”, Blood 1993, 82(2):465-47