Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Kamakari S"'
Purpose: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. Observations: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence. They were ref
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::1364b6374f6c4fc48e566c5c86ca5ead
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3100288
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3100288
Akademický článek
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Akademický článek
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Publikováno v:
Molecular Vision
Scopus-Elsevier
Scopus-Elsevier
Purpose To describe the genotype–phenotype correlation in four Greek pedigrees with autosomal dominant optic atrophy (ADOA) and OPA1 mutations. Methods Seven patients from four unrelated families (F1, F2, F3, F4) were clinically assessed for visual
Background and purpose Although the first mutation associated with Parkinson’s disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic study of this and other kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::78bad7db55bca3389e3d231cec92caeb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3162318
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3162318
Akademický článek
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Oral squamous cell carcinoma (OSCC) is the sixth most common cancer in the world. The phosphatidylinositol 3 kinase (PI3K) signalling pathway has been reported to play an important role in OSCC. Since we have previously detected absence of hotspot PI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::ceef104bc7b7b28d0bbc7436fc9fca8a
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090447
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090447
The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::24599e4a5e73c5376fdcba947a37e8cf
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111690
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111690
Objective: Phosphatidylinositol-3 kinases (PI3K) are a group of heterodimeric lipid kinases that regulate many cellular processes. Recent studies have reported high frequencies of somatic hotspot mutations in the phosphatidylinositol-3 kinase catalyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::7aead5c80228d6cd5df94e5d96178d69
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2991557
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2991557
Background:In most Western populations, 5-10% of all breast cancer cases can be attributed to major genetic factors such as predisposing mutations in BRCA1 and BRCA2, with early-onset cases generally considered as an indicator of genetic susceptibili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::37b3380d1247a6fc34951549da8827a7
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3089825
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3089825