Zobrazeno 1 - 10
of 27
pro vyhledávání: '"A Galla-Voumvouraki"'
Autor:
Zoe Kosmaidou, George Stavrides, Christina Eftychi, Philippos C. Patsalis, Nicos Skordis, Carolina Sismani, Ludmila Kousoulidou, George Koumbaris, Sophia Kitsiou-Tzeli, Angeliki Galla-Voumvouraki, Charalambos G Hadjiathanasiou, Ken McElreavey, Antonis Ioulianos
Publikováno v:
American Journal of Medical Genetics Part A. :145-149
A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinical phenotypes. The aim of this study was to investigate pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0402343e7d57a8061fa201fc2eb0137
https://doi.org/10.1002/ajmg.a.30712
https://doi.org/10.1002/ajmg.a.30712
A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinical phenotypes. The aim of this study was to investigate pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::1db71ca80f6bdf6a03e64281ac68782f
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3094145
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3094145
Autor:
S, Kitsiou-Tzeli, A, Kolialexi, H, Fryssira, A, Galla-Voumvouraki, K, Salavoura, M, Kanariou, G Th, Tsangaris, E, Kanavakis, A, Mavrou
Publikováno v:
In vivo (Athens, Greece). 18(5)
Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c83fdf0e60d39854bc248f6c97fb7744
https://pubmed.ncbi.nlm.nih.gov/15523900
https://pubmed.ncbi.nlm.nih.gov/15523900
Autor:
Sophia Kitsiou-Tzeli, E. Kavazarakis, A Tsezou, C Sinamniotis, A Galla-Voumvouraki, P Koukoutsakis, A Skardoutsou
Publikováno v:
Acta Paediatrica. 83:672-673
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e0e32c028bf53d1cae92c688737282
https://doi.org/10.1111/j.1651-2227.1994.tb13110.x
https://doi.org/10.1111/j.1651-2227.1994.tb13110.x
Autor:
Didier Lacombe, Michael B. Petersen, Milan Macek, Göran Annerén, Gunnar Houge, Sofia Kitsiou-Tzeli, Aspasia Tsezou, Anne Moncla, Niels Clausen, Karen Brøndum-Nielsen, Michel Vekemans, Gabriela von Beust, I López Pajares, Dimitris Avramopoulos, Elisabeth Blennow, Johanne M D Hahnemann, Angeliki Galla-Voumvouraki, Maria Grigoriadou, Georgia Karadima, Philippos C. Patsalis, Eberhard Passarge, Dimitris Vassilopoulos, Konstantin Miller, Peter Nicolaidis, Beate Albrecht, Marguerite Prieur, Jens Michael Hertz, Merete Bugge, Miloslav Kuklík
Publikováno v:
Scopus-Elsevier
Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b8606637eec0cb52ed3c5d7d8c1897
https://pubmed.ncbi.nlm.nih.gov/9801867
https://pubmed.ncbi.nlm.nih.gov/9801867
Autor:
Maria Alevizaki, C Sinaniotis, Elisabeth Blennow, Aspasia Tsezou, A Galla-Voumvouraki, S Bajalica, Sofia Kitsiou-Tzeli
Publikováno v:
Journal of medical genetics. 32(12)
We present a study of a mentally retarded and mildly dysmorphic female in whom initial cytogenetic studies identified the karyotype 46,X, + mar. Further characterisation of the structurally abnormal chromosome by fluorescence in situ hybridisation (F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac37e0946e5080b971f779e0b3902251
https://pubmed.ncbi.nlm.nih.gov/8825932
https://pubmed.ncbi.nlm.nih.gov/8825932
Autor:
A. D. Galla-Voumvouraki, S. A. Kitsiou, M. K. Kyriakidis, Theodoros Apostolopoulos, A. N. Tsezou, P. K. Toutouzas
Publikováno v:
Postgraduate medical journal. 70(829)
Summary We present a case of a female patient with monosomy of X chromosome in peripheral lymphocytes and skin fibroblasts, normal ovarian function and associated multiple congenital abnormalities of the aorta: bicuspid aortic valve, dilatation of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc386b08629aade817b1864480f634f
https://pubmed.ncbi.nlm.nih.gov/7824424
https://pubmed.ncbi.nlm.nih.gov/7824424
Akademický článek
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Akademický článek
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Autor:
Karadima, Georgia, Bugge, Merete, Nicolaidis, Peter, Vassilopoulos, Dimitris, Avramopoulos, Dimitris, Grigoriadou, Maria, Albrecht, Beate, Passarge, Eberhard, Annerén, Göran, Blennow, Elisabeth, Clausen, Niels, Galla-Voumvouraki, Angeliki, Tsezou, Aspasia, Kitsiou-Tzeli, Sofia, Hahnemann, Johanne M, Hertz, Jens M, Houge, Gunnar, Kuklík, Miloslav, Macek, Milan
Publikováno v:
European Journal of Human Genetics; Sep98, Vol. 6 Issue 5, p432, 7p