Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rüştü Fikret Akata"'
Hyperferritinemia-cataract syndrome, characterized by high serum ferritin concentration and cataracts in early life, remains a less-known rare disease, with fewer than 100 families reported worldwide. Though benign, high ferritin levels frequently re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca7a1c449b643e45e6dc23f690e1094
https://avesis.gazi.edu.tr/publication/details/c1b15b0a-7e9e-4715-a0fc-e48067354cbe/oai
https://avesis.gazi.edu.tr/publication/details/c1b15b0a-7e9e-4715-a0fc-e48067354cbe/oai
Autor:
Shirleny Cardoso, Rüştü Fikret Akata, Juliana Teo, Amanda J. Walne, Nikolas Pontikos, Inderjeet Dokal, Jude Fitzgibbon, Alicia Ellison, Kazunori Tomita, Hemanth Tummala, Laura C. Collopy, Zhou Songyang, Tekin Aksu, Neşe Yaralı, Tom Vulliamy, Deniz Aslan
This research was originally published in Blood Online. Tummala, H., et al. (2018). "Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes." Blood 132(12): 1349-1353. Title. Blood. Prepublis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ff16736db5fcff57d1e81e84960694
https://avesis.gazi.edu.tr/publication/details/c31d0629-f448-41ba-a86b-c9b50a05b2d1/oai
https://avesis.gazi.edu.tr/publication/details/c31d0629-f448-41ba-a86b-c9b50a05b2d1/oai
Publikováno v:
American Journal of Medical Genetics Part A. 164:2947-2951
Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f837e30376e401d719ef6b3fef72d0ee
https://doi.org/10.1002/ajmg.a.36727
https://doi.org/10.1002/ajmg.a.36727
Publikováno v:
International Ophthalmology. 32:615-622
The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency. The clinical, laboratory and molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fa2d90332067a195db0761cbacdf002
https://doi.org/10.1007/s10792-012-9611-8
https://doi.org/10.1007/s10792-012-9611-8
Autor:
Deniz Aslan, Rüştü Fikret Akata
Publikováno v:
Pediatric Blood & Cancer. 65:e26922
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c15c41e524355aaff4f98e4fa6dbb28
https://doi.org/10.1002/pbc.26922
https://doi.org/10.1002/pbc.26922
Autor:
Rüştü Fikret Akata, Deniz Aslan
Publikováno v:
Stem Cells and Cancer Stem Cells, Volume 5 ISBN: 9789400728998
By the evolution of science, the basis of disorders has been located at a particular subject, stem cell. It seems that radical therapies for diseases in the near future would be achieved by treatment strategies targeting stem cells. Nowadays, therefo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e3bdc6679298586b49c32d17c0877a3
https://doi.org/10.1007/978-94-007-2900-1_17
https://doi.org/10.1007/978-94-007-2900-1_17
Autor:
Deniz Aslan, Rüştü Fikret Akata
Publikováno v:
Experimental Eye Research. 90:472-473
In light of the latest developments in the field of molecular hematology, we herein discuss the reported cases that have presented dyskeratosis congenita as one of the inherited stem cell diseases causing limbal stem cell deficiency. (C) 2009 Elsevie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb20eeb0ff60514fd7ae60e78a9b3f8
https://doi.org/10.1016/j.exer.2009.12.008
https://doi.org/10.1016/j.exer.2009.12.008