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Πλοήγηση ανά Θέμα "genetic counseling"

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    • 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case 

      Paspaliaris V., Vrachnis N., Iliodromiti Z., Antonakopoulos N., Papaioannou G., Vlachadis N., Anastasiadou F., Sotiriou S., Garas A., Thomaidis L., Manolakos E. (2017)
      Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ...

    • Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report 

      Orru S., Papoulidis I., Siomou E., Papadimitriou D.T., Sotiriou S., Nikolaidis P., Eleftheriades M., Papanikolaou E., Thomaidis L., Manolakos E. (2019)
      In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ...

    • International Consensus on the Use of Genetics in the Management of Hereditary Angioedema 

      Germenis A.E., Margaglione M., Pesquero J.B., Farkas H., Cichon S., Csuka D., Lera A.L., Rijavec M., Jolles S., Szilagyi A., Trascasa M.L., Veronez C.L., Drouet C., Zamanakou M., Andrejevic S., Aygören-Pürsün E., Bara N.-A., Bernstein J., Bork K., Bouillet L., Bova M., Boysen H.H., Bygum A., Caballero T., Castaldo A., Christiansen S., Cicardi M., Fabiani J., Katelaris C., Dewald G., Gökmen N.M., Gonzalez-Quevedo M.T., Gooi J., Grivcheva-Panovska V., Grumach A., Hakl R., Hardy G., Jesenak M., Kaplan A., Kirschfink M., Köhalmi K.V., Leibovich I., Longhurst H.J., Lumry W., Magerl M., Saguer I.M., Nagy I.B., Nieto S., Nordenfelt P., Porębski G., Psarros F., Reshef A., Riedl M.A., Sheikh F., Peter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Waserman S., Weber C., Wuillemin W., Zuraw B. (2020)
      Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from ...

    • Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece 

      Fountzilas E., Apostolou P., Vasiliadis A.V., Aivazi D., Saloustros E., Fostira F. (2022)
      Genetic testing has been implemented in clinical practice. However, data on physician’s practices and education related to cancer genetics, risk assessment and clinical management in Greece, is limited. In Greece, genetic ...

    • Renin-angiotensin system single nucleotide polymorphisms are associated with bladder cancer risk 

      Samara M., Papathanassiou M., Farmakioti I., Anagnostou M., Satra M., Mitrakas L., Anastasiou D., Chasiotis G., Christopoulos A., Anagnostou A., Christodoulou A., Daponte A., Ioannou M., Koukoulis G., Tzortzis V., Vlachostergios P.J. (2021)
      The renin-angiotensin system (RAS), besides being a major regulator of blood pressure, is also involved in tumor angiogenesis. Emerging evidence suggests a correlation between the use of pharmacologic RAS inhibitors and a ...