Zobrazeno 1 - 10
of 244
pro vyhledávání: '"Tsoutsou, E."'
Autor:
Chapman KA; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA., Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA., Yahiku ZA; Department of Neuroscience, University of Arizona, Tucson AZ, USA., Kodiparthi SV; AIQure LLC, El Paso, TX, USA., Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Stödberg T; Department of Women's and Children`s Health, Karolinska Institute, Stockholm, Sweden; and Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden., Sofokleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood,National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Fryssira H; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tsoutsou E; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Accogli A; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University. College London, London, WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Giannina Gaslini Institute, Genoa, Italy., Berger SI; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA., Pond KW; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine - Tucson, AZ, USA., Sirimulla S; AIQure LLC, El Paso, TX, USA., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA., Bhattacharya MR; Department of Neuroscience, University of Arizona, Tucson AZ, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 01. Date of Electronic Publication: 2024 Jul 01.
Publikováno v:
The Application of Clinical Genetics, Vol Volume 12, Pp 19-25 (2019)
Athanasios Goumenos,1 Eirini Tsoutsou,1 Joanne Traeger-Synodinos,1 Dimitrios Petychakis,1,2 Maria Gavra,3 Aggeliki Kolialexi,1 Helena Frysira1 1Choremio Research Laboratory, Department of Medical Genetics, Faculty of Medicine, National and Kapodistri
Externí odkaz:
https://doaj.org/article/f27a4974f5b845d8aeb50694918c581b
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been described and almost 4500 causative gene(s) have been identified. The advent of next-generation sequencing (NGS) technologies has revolutionized genomic research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::110d842197e037282256433f1313f856
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076611
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076611
Objective: To describe a novel unbalanced X;21 translocation resulting in a derivative pseudodicentric chromosome X;21 lacking the critical region for ovarian development and function, in a 16-year-old girl referred for cytogenetic analysis due to pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::d85676ed2b4249f8acd1667ed4bef94f
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3077302
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3077302
Autor:
Marais A; CENTOGENE GmbH Rostock, Germany. Electronic address: anett.marais@centogene.com., Bertoli-Avella AM; CENTOGENE GmbH Rostock, Germany., Beetz C; CENTOGENE GmbH Rostock, Germany., Altunoglu U; Department of Medical Genetics, Koç University, School of Medicine, 34450, Istanbul, Turkey., Alhashem A; Division of Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Mohamed S; Division of Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City Riyadh, Saudi Arabia; Prince Abdullah Bin Khaled Coeliac Disease Research Chair, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediarics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alghamdi A; Pediatrics Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Willems P; GENDIA, Genetic Diagnostic Network, Belgium., Tsoutsou E; Medical Genetics Department, Choremio Research Laboratory, 'Aghia Sophia' Children's Hospital, National and Kapodistrian University of Athens, Greece., Fryssira H; Medical Genetics Department, Choremio Research Laboratory, 'Aghia Sophia' Children's Hospital, National and Kapodistrian University of Athens, Greece., Pons R; Medical Genetics Department, Choremio Research Laboratory, 'Aghia Sophia' Children's Hospital, National and Kapodistrian University of Athens, Greece., Almarzooq R; Pediatric Department, Salmaniya Medical Complex, Manama, Bahrain., Karatoprak EY; Departments of Pediatric Neurology, İstanbul Medeniyet University Faculty of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey., Ayaz A; Istanbul Medipol University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey., Ünverengil G; Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Calvo M; CENTOGENE GmbH Rostock, Germany., Yüksel Z; CENTOGENE GmbH Rostock, Germany., Bauer P; CENTOGENE GmbH Rostock, Germany.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2022 Aug; Vol. 65 (8), pp. 104537. Date of Electronic Publication: 2022 Jun 09.
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::196b0af2ac27b7f4e343d5823bff6f9f
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078316
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078316
Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::d0836d92ea5a1535f75e0cf6a611e997
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3121895
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3121895
Autor:
Goumenos, A. Tsoutsou, E. Traeger-Synodinos, J. Petychakis, D. Gavra, M. Kolialexi, A. Frysira, H.
Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::e2c1972c71e67ed13522c17c3a40a5db
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078902
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078902
Autor:
Fryssira, H.1, Tsoutsou, E.1, Psoni, S.1, Amenta, S.2, Liehr, T.3, Anastasakis, E.4, Skentou, Ch5, Ntouflia, A.6, Papoulidis, I.6, Manolakos, E.6,7 manolakos@atg-labs.gr, Chaliasos, N.8
Publikováno v:
Molecular Cytogenetics (17558166). 8/2/2016, Vol. 9, p1-7. 7p.
Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene. The aim of this study was to identify the genetic causes underlying the disease, attempt possible phenotype/genotype correlations and add to the NF1 mutation spectrum. A screening
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::25238498abbf97ac764b76216dda9c69
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997975
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997975