Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Sergouniotis, P"'
Autor:
Maldonado-Garcia, Cynthia, Bonazzola, Rodrigo, Ferrante, Enzo, Julian, Thomas H, Sergouniotis, Panagiotis I, Ravikumara, Nishant, Frangi, Alejandro F
We investigated the potential of optical coherence tomography (OCT) as an additional imaging technique to predict future cardiovascular disease (CVD). We utilised a self-supervised deep learning approach based on Variational Autoencoders (VAE) to lea
Externí odkaz:
http://arxiv.org/abs/2403.18873
Autor:
David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, Panagiotis I. Sergouniotis
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)
Abstract Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinatio
Externí odkaz:
https://doaj.org/article/f6ea4e64116847d9b33da3960a045729
Autor:
Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to system
Externí odkaz:
https://doaj.org/article/7b225a2d284c4310a92d08a21c5707ae
Autor:
Thomas H. Julian, Zain Girach, Eleanor Sanderson, Hui Guo, Jonathan Yu, Johnathan Cooper-Knock, Graeme C. Black, Panagiotis I. Sergouniotis
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Primary open angle glaucoma (POAG) is a chronic, adult-onset optic neuropathy associated with characteristic optic disc and/or visual field changes. With a view to identifying modifiable risk factors for this common neurodegenerative conditi
Externí odkaz:
https://doaj.org/article/b6590d0efc7f46cbb6a2f333cb03926f
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-8 (2022)
Albinism is a rare disorder often caused by high-effect rare variants in the TYR gene. Here, the authors study a large albinism cohort and find that a common variant in the TYR promoter contributes to albinism by modifying the penetrance of other com
Externí odkaz:
https://doaj.org/article/01831573c4ab4a8191b1243d40df0a50
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundIn Scandinavian countries, programs for fertility preservation (FP) are offered free of charge at tertiary-care university hospitals to all patients facing infertility risks due to malignant diagnoses or benign conditions. In this prospecti
Externí odkaz:
https://doaj.org/article/426837834ac84369a4fd1cc7107eb4b2
Autor:
Matthew Lebo, Marcie Steeves, Katherine Benson, Laura Conlin, Mythily Ganapathi, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Kelly McGoldrick, Blake Palculict, Heidi Rehm, Panagiotis Sergouniotis, Samantha Schilit, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang Zhang, Ryan Schmidt
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100457- (2023)
Externí odkaz:
https://doaj.org/article/8a665122ab624072847b796a9fdf6843