Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Despina Hadjipanagi"'
Autor:
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
Publikováno v:
BMC Nephrology, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic
Externí odkaz:
https://doaj.org/article/60ea5110388c4002b20d58a5ee9ce72a
Autor:
Despina Hadjipanagi, Gregory Papagregoriou, Constantina Koutsofti, Christiana Polydorou, Polichronis Alivanis, Aimilios Andrikos, Stalo Christodoulidou, Manthos Dardamanis, Athanasios A. Diamantopoulos, Anastasios Fountoglou, Eleni Frangou, Eleni Georgaki, Ioannis Giannikouris, Velissarios Gkinis, Pavlos C. Goudas, Rigas G. Kalaitzidis, Nikolaos Kaperonis, Georgios Koutroumpas, George Makrydimas, Grigorios Myserlis, Andromachi Mitsioni, Christos Paliouras, Fotios Papachristou, Dorothea Papadopoulou, Nikolaos Papagalanis, Aikaterini Papagianni, Garyfalia Perysinaki, Ekaterini Siomou, Konstantinos Sombolos, Ioannis Tzanakis, Georgios V. Vergoulas, Nicoletta Printza, Constantinos Deltas
Publikováno v:
Genes; Volume 13; Issue 12; Pages: 2203
Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked COL4A5 (NM_000495.5) gene or recessive variants in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a5b0461682d1d3d2660ba70464fb06
Autor:
Daniel P. Gale, Eugenios Daphnis, Dimitris Goumenos, Antonia Papadaki, Alkis Pierides, George Vergoulas, Elena Frysira, Konstantinos Voskarides, Constantina Koutsofti, Constantinos Deltas, Despina Hadjipanagi, Petros Ioannou, Dimitrios Grekas, Eleni Georgaki, Ioannis Tzanakis, Christina Melexopoulou, Garyfalia Perysinaki, Athanasios Diamantopoulos, Andreas Soloukides, Alivanis P, Louiza Papazachariou, Gregory Papagregoriou, Dimitris Xydakis, Fifi Komianou, Panagiota Demosthenous, Ioannis Boletis, Nicolaos Nikolakakis, Christos Paliouras, Nicolaos Kallivretakis, Pavlos Goudas, Kostas Stylianou
Publikováno v:
Clinical Genetics. 92:517-527
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824c22b06b490fc7684341ef7c1dce35
https://doi.org/10.1111/cge.13077
https://doi.org/10.1111/cge.13077
Autor:
Konstantinos Voskarides, Stéphane Mazières, Despina Hadjipanagi, Julie Di Cristofaro, Anastasia Ignatiou, Charalambos Stefanou, Roy King, Peter Underhill, Jacques Chiaroni, Constantinos Deltas
Publikováno v:
Société d'Anthropologie de Paris
Société d'Anthropologie de Paris, Jan 2016, Lyon, France
HAL
Société d'Anthropologie de Paris, Jan 2016, Lyon, France
HAL
National audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::72b8508a61aeedc5de71002401dd4b17
https://hal.science/hal-01273386
https://hal.science/hal-01273386
Autor:
Maciej Jankowski, Hanna Nosek, Katarzyna Taranta-Janusz, Małgorzata Pańczyk-Tomaszewska, Aleksandra Żurowska, Alina Rabiega, Elżbieta Kuźma-Mroczkowska, Anna Jander, Janina Taraszkiewicz, Beata S. Lipska-Ziętkiewicz, Anna Stanisławska-Sachadyn, Anna Jakubowska, Constantinos Deltas, Anna Moczulska, Dorota Drozdz, Olga Bielska, Danuta Ostalska-Nowicka, Kinga Musiał, Maria Szczepańska, Despina Hadjipanagi, Katarzyna Jobs, Judyta Mews, Dominka Kuleszo, Ewa Ziętkiewicz, Dagmara Roszkowska-Bjanid, Constantina Koutsofti, Patrycja Daca-Roszak, Anna Wieczorkiewicz-Płaza
Publikováno v:
Kidney International
A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ebd70fa99461826b1dab2fd28faed32