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Akademický článek

A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

Autor: Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN

Publikováno v: Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 63-67 (2018)

A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridiza

Externí odkaz: https://doaj.org/article/7e2dd82776644a21930ccca5fa05b9f7

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Akademický článek

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Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype

Autor: Kouvidi, E. Zachaki, S. Selenti, N. Veltra, D. Evmorfopoulou, T. Tsoutsou, E. Tzifa, G. Sofocleous, C. Gagos, S. Mavrou, A.

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

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Perinatal lipocalin-2 profile at the extremes of fetal growth

Autor: Eirini Papathanasiou, A. Malamitsi-Puchner, A. Gavrili, S. Zachaki, S. Georgantzi, S. Marmarinos, A. Christou, C. Voulgaris, K. Gourgiotis, D. Briana, D.D.

Background: Lipocalin-2 (LCN-2) has been identified as an osteoblast-secreted hormone regulating immunity, inflammation and metabolic homeostasis and has emerged as a diagnostic and prognostic biomarker for acute kidney injury in neonates. We investi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::b4546bea1c08e3ef12c35c5e314afd2e
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3120396

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