Výsledky vyhledávání - "Chrysanthi Billi"

Akademický článek

Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature

Autor: Panagiotis Christopoulos, Anna Eleftheriades, George Paltoglou, Eleni Paschalidou, Emmanouil Kalampokas, Lina Florentin, Chrysanthi Billi, Makarios Eleftheriades

Publikováno v: Children, Vol 9, Iss 8, p 1229 (2022)

We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 w

Externí odkaz: https://doaj.org/article/bbfb1b4408a74c23ba3d0353046ac304

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First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic testing for hereditary angioedema

Autor: Minas Mastrominas, Anastasios Pachydakis, Lina Florentin, Chrysanthi Billi, Konstantinos Α. Economou, Ioannis Sintoris

Publikováno v: Hellenic Journal of Obstetrics and Gynecology. 20:103-108

Preimplantation genetic testing for monogenic/single-gene defects (PGT-M) is a well established tool in assisted reproduction. A couple, where the male was carrier of the c.550G>A (p.Gly184Arg) mutation of the SERPING 1 gene causing hereditary angioe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0700c7179e00765010f16206da52cfe3
https://doi.org/10.33574/hjog.0103

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