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Πλοήγηση ανά Θέμα "preimplantation genetic diagnosis"

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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 ...

    • Clinical Outcome, Socioeconomic Status and Psychological Constrains of Patients Undergoing Preimplantation Genetic Testing (PGT) in Northern Greece 

      Patrikiou A., Papadopoulou A., Noutsos C., Tzekis P., Koios N., Kourempeles I., Anifandis G., Sioga A., Grimbizis G., Tarlatzis B.C., Chatzimeletiou K. (2022)
      Background and objectives: Preimplantation genetic testing (PGT) offers patients the possibility of having a healthy baby free of chromosomal or genetic disorders. The present study focuses on the application of PGT for ...

    • 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 ...