Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Anca Lelia Riza"'
Autor:
Andreea Teodora Constantin, Ioana Streata, Mirela Silvia Covăcescu, Anca Lelia Riza, Ioana Roșca, Corina Delia, Lucia Maria Tudor, Ștefania Dorobanțu, Adina Dragoș, Diana Ristea, Mihai Ioana, Ioan Gherghina
Publikováno v:
Diagnostics, Vol 13, Iss 12, p 1988 (2023)
Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a single-cente
Externí odkaz:
https://doaj.org/article/6e0c07a7745c430d871fc88b3e9ddc87
Autor:
Bianca Petre-Mandache, Emilia Burada, Mihai Gabriel Cucu, Diter Atasie, Anca-Lelia Riza, Ioana Streață, Radu Mitruț, Răzvan Pleșea, Amelia Dobrescu, Andrei Pîrvu, Gabriela Popescu-Hobeanu, Paul Mitruț, Florin Burada
Publikováno v:
Current Oncology, Vol 31, Iss 10, Pp 6406-6418 (2024)
Colorectal cancer (CRC) is a major public health problem worldwide, currently ranking third in cancer incidence and second in mortality. Multiple genes and environmental factors have been involved in the complex and multifactorial process of CRC carc
Externí odkaz:
https://doaj.org/article/f47b0aa1510d4090890fd2665d485e79
Autor:
Cristina Elena Negroiu, Anca-Lelia Riza, Ioana Streață, Iulia Tudorașcu, Cristina Maria Beznă, Adrian Ionuț Ungureanu, Suzana Dănoiu
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 8, Pp 8512-8525 (2024)
Fibroblast growth factor 21 (FGF21) is a hormone involved in regulating the metabolism, energy balance, and glucose homeostasis, with new studies demonstrating its beneficial effects on the heart. This study investigated the relationship between FGF2
Externí odkaz:
https://doaj.org/article/46ac8a5ce72648fea4228aaf273f513e
Autor:
Andreea Teodora Constantin, Corina Delia, Lucia Maria Roșu, Ioana Roșca, Ioana Streață, Anca-Lelia Riza, Ioan Gherghina
Publikováno v:
Medicina, Vol 60, Iss 10, p 1602 (2024)
Background and Objectives: Familial hypercholesterolemia (FH) is a genetic disease that is massively underdiagnosed worldwide. Affected patients are at high risk of cardiovascular events at young ages. Early intervention in childhood could help preve
Externí odkaz:
https://doaj.org/article/75663a89b5d343a7b3ced712776eb952
Autor:
Gherghina, Andreea Teodora Constantin, Ioana Streata, Mirela Silvia Covăcescu, Anca Lelia Riza, Ioana Roșca, Corina Delia, Lucia Maria Tudor, Ștefania Dorobanțu, Adina Dragoș, Diana Ristea, Mihai Ioana, Ioan
Publikováno v:
Diagnostics; Volume 13; Issue 12; Pages: 1988
Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a single-cente
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::6e99763df398ce7ce82060d934ed9ffa
Autor:
Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 327
Volume 14
Issue 2
Pages: 327
Orofaciodigital syndrome I (OFD1–MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36b7cfd977f799c00d19a4c3cac8c501
Autor:
Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, null on behalf of the HINT Study, null on behalf of the FUSE Study, Mihai Ioana, Radu Popp
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 69
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2af2688fedf252aa1cd9c47097f5c45
Autor:
Ioana, Streață, Alexandru, Caramizaru, Anca-Lelia, Riza, Simona, Șerban-Sosoi, Andrei, Pîrvu, Monica-Laura, Cara, Mihai-Gabriel, Cucu, Amelia Mihaela, Dobrescu, Ro-Nmca-Id Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology V Gomoiu Hospital Group, Elena-Silvia, Shelby, Adriana, Albeanu, Florin, Burada, Mihai, Ioana
Publikováno v:
Diagnostics; Volume 12; Issue 12; Pages: 3137
The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c6680fbd1fb6e16306c2269c2c88b3
https://pubmed.ncbi.nlm.nih.gov/36553144
https://pubmed.ncbi.nlm.nih.gov/36553144
Autor:
Anca-Lelia, Riza, Ioana, Streață, Eugenia, Roza, Magdalena, Budișteanu, Catrinel, Iliescu, Carmen, Burloiu, Mihaela-Amelia, Dobrescu, Stefania, Dorobanțu, Adina, Dragoș, Andra, Grigorescu, Tiberiu, Tătaru, Mihai, Ioana, Raluca, Teleanu
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1253
Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Genetic DEEs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f240990efeca2faa0c158db7fc87b77
Autor:
Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Streață, Codruța Petcheși, Andra Dan, Cristian Sava, Andreea Balmoș, Cristian Marinău, Larisa Niulaș, Mihai Ioana, Marius Bembea
Publikováno v:
Diagnostics; Volume 13; Issue 8; Pages: 1483
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene and is characterized by altered amino acid metabolism. More than 1500 known PAH variants intricately determine a spectrum of metabolic phenotypes. We aim to repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c441bdb6b0e3be96f1e7874c69f376
https://doi.org/10.3390/diagnostics13081483
https://doi.org/10.3390/diagnostics13081483