A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Autor: Bourousis E; Child's & Adolescent's Development and Endocrinology Unit, Athens General Children's Hospital 'P. & A. Kyriakou', Athens, Greece. vbourousis@gmail.com., Xatzipsalti M; Child's & Adolescent's Development and Endocrinology Unit, Athens General Children's Hospital 'P. & A. Kyriakou', Athens, Greece., Polychroni I; Private Endocrinology Unit, Athens, Greece., Kanavakis E; Genesis Genoma' Lab, Private Clinical Genetics Lab, Athens, Greece., Stamoyannou L; Special Child's & Adolescent's Development and Endocrinology Unit, 'IASO' Children's Private Hospital, Athens, Greece.

Publikováno v: Hormones (Athens, Greece) [Hormones (Athens)] 2024 Sep; Vol. 23 (3), pp. 591-593. Date of Electronic Publication: 2024 May 24.

The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients

Autor: Pantou, A. Mitrakos, A. Kokkali, G. Petroutsou, K. Tounta, G. Lazaros, L. Dimopoulos, A. Sfakianoudis, K. Pantos, K. Koutsilieris, M. Mavrou, A. Kanavakis, E. Tzetis, M.

Purpose: To investigate whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcome in patients with advanced maternal age (AMA), recurrent miscarriages (RM), and recurrent implantation failure (RIF). Methods: Retrosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::bbe89082967392576ad4346ed4f013f4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3220419

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Proliferative and chondrogenic potential of mesenchymal stromal cells from pluripotent and bone marrow cells.

Autor: Sfougataki I; Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, Athens, Greece.; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children's Hospital, Athens, Greece. irene_sf_@hotmail.com., Varela I; Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, Athens, Greece., Stefanaki K; Department of Histopathology, Aghia Sophia Children's Hospital, Athens, Greece., Karagiannidou A; Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, Athens, Greece., Roubelakis MG; Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kalodimou V; Flow Cytometry-Research and Regenerative Medicine Department, IASO Hospital, Athens, Greece., Papathanasiou I; Laboratory of Cytogenetics and Molecular Genetics, Faculty of Medicine, University of Thessally, Thessally, Greece., Traeger-Synodinos J; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kitsiou-Tzeli S; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kanavakis E; Genesis Genoma Lab, Genetic diagnosis, Clinical Genetics and Research, Chalandri, Greece., Kitra V; Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, Athens, Greece., Tsezou A; Laboratory of Cytogenetics and Molecular Genetics, Faculty of Medicine, University of Thessally, Thessally, Greece., Tzetis M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Goussetis E; Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, Athens, Greece.

Publikováno v: Histology and histopathology [Histol Histopathol] 2020 Dec; Vol. 35 (12), pp. 1415-1426. Date of Electronic Publication: 2020 Sep 22.

Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH

Autor: Mitrakos, A. Lazaros, L. Pantou, A. Mavrou, A. Kanavakis, E. Tzetis, M.

Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplasti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::4d91aa45c6ad643e2d34ec43c77963e6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078626