Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ioanna Alexandrou"'
Autor:
Athina Theodosiou, Violetta Christophidou-Anastasiadou, Angelos Alexandrou, Ludmila Kousoulidou, Ioanna Alexandrou, George A. Tanteles, Carolina Sismani, Ioannis Papaevripidou, Paola Evangelidou
Publikováno v:
Clinical Case Reports
Key Clinical Message We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7fa8faa5d0a50a041e5d7a4ce98a9a
https://doi.org/10.1002/ccr3.1985
https://doi.org/10.1002/ccr3.1985
This is the first study aiming to investigate mTOR signaling and its relation to mismatch repair status (MMR status) in colorectal cancer (CRC). MMR status and the phosphorylated proteins, pmTOR and p4EBP1, have been immunohistochemically analyzed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c1fcf3a535e2c0117ebe2a11362ed003
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3032290
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3032290
Autor:
Ioanna Alexandrou, Costas Koufaris, Violetta Christophidou-Anastasiadou, Angelos Alexandrou, Carolina Sismani, Ioannis Papaevripidou
Publikováno v:
Journal of Genetics
Prader-Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an imprinting centre in 15q11-q13. Here, we repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9720ab6f7f761fd5ced3eb5c1c441c
Autor:
M. Tryfonidis, Carolina Sismani, Ioanna Alexandrou, Eleni Zamba-Papanicolaou, Nicos Skordis, Angelos Alexandrou, Violetta Christophidou-Anastasiadou, George Koumbaris, Vassos Neocleous, Kyriakos Tsangaras, Ioannis Papaevripidou, Leonidas A. Phylactou, George A. Tanteles
Publikováno v:
Journal of Genetics
Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::294a57f07402dad4cbdd078900d94549