Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Tsoutsou E"'
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
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
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c53c821804ea0b67dc45ef5a66994bd8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087278
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087278
BackroundMicrocephaly can either be isolated or it may coexist with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::2e5df9780415a49a2c63030bb801feca
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3108447
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3108447