Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ina Ofelia Focsa"'
Autor:
Ina Ofelia FOCSA, Magdalena BUDISTEANU, Cristina STOICA, Florina NEDELEA, Claudia JURCA, Lavinia CABA, Lacramioara BUTNARIU, Monica PANZARU, Cristina RUSU, Mihaela BALGRADEAN
Publikováno v:
Modern Medicine, Vol 29, Iss 1, Pp 37-42 (2022)
Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning diff
Externí odkaz:
https://doaj.org/article/4183892bc94249f2ae6e415605038429
Autor:
Ina-Ofelia FOCSA, Andreea TUTULAN-CUNITA, Anca PAVEL, Diana PREPELITA, Diana BRATU, Laurentiu Camil BOHILTEA, Danae STAMBOULI
Publikováno v:
Modern Medicine, Vol 29, Iss 3, Pp 187-192 (2022)
Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the
Externí odkaz:
https://doaj.org/article/1dd78e45f13e416b9056a3a0a859ffea
Autor:
Aurora Arghir, Dan Riga, Magdalena Budisteanu, Alexandru Daniel Jurcă, Ina Ofelia Focsa, Sorina Mihaela Papuc, Sorin Riga, Claudia Jurca
Publikováno v:
Open Life Sciences
Open Life Sciences, Vol 15, Iss 1, Pp 21-29 (2020)
Open Life Sciences, Vol 15, Iss 1, Pp 21-29 (2020)
Chromosomal diseases are heterogeneous conditions with complex phenotypes, which include also epileptic seizures. Each chromosomal syndrome has a range of specific characteristics regarding the type of seizures, EEG findings and specific response to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e502b35670e91756d3a78518ff0bb90
http://europepmc.org/articles/PMC8114617
http://europepmc.org/articles/PMC8114617
Autor:
Andreea Tutulan-Cunita, Ina Ofelia Focsa, Aurora Arghir, Sorina Mihaela Papuc, Magdalena Budisteanu
Phelan-McDermid (PMS) or 22q13 deletion syndrome (OMIM 606232) is a rare genetic disorder with highly variable clinical presentation. The phenotype includes generalized neonatal hypotonia, developmental delay with intellectual disability and delayed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e4a7c5c3b223c8c30a89c344e54dd68
https://doi.org/10.5772/intechopen.89399
https://doi.org/10.5772/intechopen.89399
Autor:
Ina Ofelia Focsa, Mihai Ioana, Ioana Streata, L.C. Bohiltea, Andrei Pirvu, S Serban Sosoi, Magdalena Budisteanu
Publikováno v:
Posters.
The CHL1 (OMIM 607416) is the most distal gene located on the short arm of chromosome 3 and encodes a protein that is a member of the immunoglobulin family. It is highly expressed in the brain and plays an important role in neural migration, neurite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::375cb799dcfabbd3dc781f5b091ca181
https://doi.org/10.1136/archdischild-2017-313273.228
https://doi.org/10.1136/archdischild-2017-313273.228
Publikováno v:
Journal of the Neurological Sciences. 381:381-382
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ada6d40d8f9f2837375b226938c862ae
https://doi.org/10.1016/j.jns.2017.08.3292
https://doi.org/10.1016/j.jns.2017.08.3292