Zobrazeno 1 - 10
of 275
pro vyhledávání: '"Kamakari, S."'
Autor:
Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France., Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy., Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy., Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel., Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia., Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland., Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA., Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA., Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland., Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK., Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA., Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina., Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine., Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand., Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy., Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK., van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands., McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland., Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece., Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil., Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Publikováno v:
Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.
Autor:
Mise T; Department of Health and Sports, Niigata University of Health and Welfare, Niigata, Japan., Kurita T; Department of Physical Therapy, Osaka Yukioka College of Health Science, Osaka, Japan., Kamakari S; Department of Rehabilitation, Minamitani Clinic, Toyonaka, Japan., Akuzawa H; Department of Physical Therapy, Niigata University of Health and Welfare, Niigata, Japan., Oshikawa T; Faculty of Sport Sciences, Waseda University, Tokorozawa, Japan., Matsunaga N; General Education Core Curriculum Division, Seigakuin University, Saitama, Japan., Kaneoka K; Faculty of Sport Sciences, Waseda University, Tokorozawa, Japan.
Publikováno v:
Sports biomechanics [Sports Biomech] 2024 Feb 21, pp. 1-14. Date of Electronic Publication: 2024 Feb 21.
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
Autor:
Rotsos T; 1st Department of Ophthalmology, University of Athens, G. Gennimatas General Hospital, 154 Mesogion Av., 115 27, Athens, Greece., Papakonstantinou E; 1st Department of Ophthalmology, University of Athens, G. Gennimatas General Hospital, 154 Mesogion Av., 115 27, Athens, Greece., Symeonidis C; 2nd Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki Ring Road, 546 03, Thessaloniki, Greece., Krassas A; 1st Department of Ophthalmology, University of Athens, G. Gennimatas General Hospital, 154 Mesogion Av., 115 27, Athens, Greece., Kamakari S; Ophthalmic Genetics Unit, OMMA Institute, 74 Katechaki Str., 115 25, Athens, Greece.
Publikováno v:
American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2022 Mar 01; Vol. 26, pp. 101452. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).
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
Autor:
Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelis SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pozo-Valero MD; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Whelan L; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Runhart EH; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Mishra K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Bults F; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., AlSwaiti Y; St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine., AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine., De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium., Banfi S; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples and Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Bauwens M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium., Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.; The Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands., Defoort S; Service d'exploration de la vision et neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Lille, France., Devos A; Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000, Lille, France., Dockery A; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Dudakova L; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Fakin A; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Farrar GJ; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Instituto de Genética Ocular, São Paulo, SP, Brazil., Fujinami K; UCL Institute of Ophthalmology, London, UK.; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Graduate School of Health Management, Keio University, Tokyo, Japan.; Moorfields Eye Hospital, London, UK., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Glavač D; Department of Molecular Genetics, Institute of Pathology, University of Ljubljana, Ljubljana, Slovenia., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California-Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Greenberg J; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan., Hettinga YM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Hufendiek K; University Eye Hospital Hannover Medical School, Hannover, Germany., Jägle H; Department of Ophthalmology, University Hospital, University Regensburg, Regensburg, Germany., Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, Athens, Greece., Karali M; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples and Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.; RetinaScience, Bonn, Germany., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands., Kousal B; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lamey TM; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., MacDonald IM; Departments of Ophthalmology and Medical Genetics, University of Alberta, Edmonton, AB, Canada., Matynia A; Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California-Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., McLaren TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., Mena MD; Laboratory of Molecular and Cellular Therapy, Fundacion Instituto Leloir-CONICET, Buenos Aires, Argentina., Meunier I; Institut des Neurosciences de Montpellier, INSERM, Université de Montpellier, Montpellier, France., Miller R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Newman H; Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ntozini B; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Oldak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland., Pieterse M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Podhajcer OL; Laboratory of Molecular and Cellular Therapy, Fundacion Instituto Leloir-CONICET, Buenos Aires, Argentina., Puech B; Service d'exploration de la vision et neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Lille, France., Ramesar R; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Rüther K; Augenarztpraxis, Dorotheenstraße, Berlin, Germany., Salameh M; St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine., Salles MV; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Instituto de Genética Ocular, São Paulo, SP, Brazil., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Spital G; Department of Ophthalmology, St. Franziskus-Hospital, Münster, Germany., Steehouwer M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw SPKSO Ophthalmic University Hospital, Warsaw, Poland., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., Thuillier C; CHU Lille, Institut de Génétique Médicale, Lille, France., Tracewska AM; DNA Analysis Unit, ŁUKASIEWICZ Research Network-PORT Polish Center for Technology Development, Wroclaw, Poland., van Zweeden M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand., Zanlonghi X; Centre de Compétence Maladie Rare, Clinique Jules Verne, Nantes, France., Liskova P; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Stöhr H; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Roach JN; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., Ayuso C; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Roberts L; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Weber BHF; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Dhaenens CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000, Lille, France., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. frans.cremers@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. frans.cremers@radboudumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1235-1246. Date of Electronic Publication: 2020 Apr 20.
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
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
Autor:
Lagoudaki, Eleni D.1,2 (AUTHOR) akoutsop@uoc.gr, Koutsopoulos, Anastasios V.1,2 (AUTHOR) georgoul@uoc.gr, Sfakianaki, Maria3 (AUTHOR) msfakianak@uoc.gr, Papadaki, Chara3 (AUTHOR) chapapadak@uoc.gr, Manikis, Georgios C.4 (AUTHOR) gmanikis@ics.forth.gr, Voutsina, Alexandra3 (AUTHOR) voutsina@med.uoc.gr, Trypaki, Maria3 (AUTHOR) chemp945@edu.chemistry.uoc.gr, Tsakalaki, Eleftheria3 (AUTHOR) med4p1030249@med.uoc.gr, Fiolitaki, Georgia3 (AUTHOR) fiolitakigeorgia@pagni.gr, Hatzidaki, Dora3 (AUTHOR) dorachat@med.uoc.gr, Yiachnakis, Emmanuel5 (AUTHOR) giahnaki@med.uoc.gr, Koumaki, Dimitra6 (AUTHOR) dkoumaki@pagni.gr, Mavroudis, Dimitrios2,3,7 (AUTHOR) j.souglakos@med.uoc.gr, Tzardi, Maria1,2 (AUTHOR) stath@med.uoc.gr, Stathopoulos, Efstathios N.1,2 (AUTHOR), Marias, Kostas4 (AUTHOR) kmarias@ics.forth.gr, Georgoulias, Vassilis2,3,7 (AUTHOR), Souglakos, John2,3,7 (AUTHOR)
Publikováno v:
Cancers. May2024, Vol. 16 Issue 10, p1818. 22p.
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