Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Silvia Andonova"'
Autor:
Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todorova
Publikováno v:
Biomedicines, Vol 12, Iss 7, p 1528 (2024)
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is stil
Externí odkaz:
https://doaj.org/article/0cf3b85c0f7044d1a4832216fd49515b
Autor:
Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Publikováno v:
Endocrine Connections, Vol 11, Iss 22, Pp 1-7 (2022)
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions,
Externí odkaz:
https://doaj.org/article/2d8fa80d5d96414aaaa8f97a72aee4ac
Autor:
Ralitsa Robeva, Elena Marinova, Silvia Andonova, Georgi Nikolaev, Alexey Savov, Dobromir Tanev, Gueorgui Nikolov, Rossitza Konakchieva
Publikováno v:
Frontiers in Bioscience-Landmark, Vol 28, Iss 6, p 122 (2023)
Background: The development of assisted reproductive techniques has significantly improved fertility chances in many women, but recurrent implantation failure (RIF) and miscarriages (RM) might preclude successful pregnancy. Alterations in the intrins
Externí odkaz:
https://doaj.org/article/7762f3e9c7df44299cfe7390cdea8425
Autor:
Maya Atanasoska, Radoslava Vazharova, Ivan Ivanov, Lubomir Balabanski, Silvia Andonova, Samuil Ivanov, Iliana Pacheva, Maxim Malinov, Draga Toncheva
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 32, Iss 6, Pp 1345-1351 (2018)
Early infantile epileptic encephalopathy (EIEE) is a disorder with variable genetic heterogeneity. Symptoms are mostly presented with generalised epileptic seizures with an infantile onset and progressive neurodevelopmental delay. Early infantile epi
Externí odkaz:
https://doaj.org/article/55309ff54a6f4886821c7554ab69568d
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 32, Iss 2, Pp 427-432 (2018)
Polycystic ovarian syndrome (PCOS) is a common heterogeneous disorder characterized by multiple clinical features including chronic anovulation, infertility, polycystic ovaries and hyperandrogenic signs. Heredity is an important factor for the develo
Externí odkaz:
https://doaj.org/article/8f58ded58728496481a1c0c30b68f6d0
Autor:
Ralitsa Robeva, Elena Marinova, Georgi Nikolaev, Silvia Andonova, Alexey Savov, Dobromir Tanev, Gueorgui Nikolov, Rossitza Konakchieva
Publikováno v:
Proceedings of the Bulgarian Academy of Sciences. 75:745-751
The present study aimed to investigate the possible associations between the melatonin receptor 1B (MTNR1b) genetic polymorphisms and the presence of reproductive disturbances due to spontaneous abortion and implantation failure leading to pregnancy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa0be3f7076f648860333bf925ae2215
https://doi.org/10.7546/crabs.2022.05.15
https://doi.org/10.7546/crabs.2022.05.15
Autor:
Irena Bradinova, Silvia Andonova, Radoslava Vazharova, Stiliyana Tomova, Lubomir Balabanski, Alexey Savov
Publikováno v:
Clinical genetics. 102(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::051dd67e7c248f6691638529d0b10339
https://pubmed.ncbi.nlm.nih.gov/35338657
https://pubmed.ncbi.nlm.nih.gov/35338657
Autor:
Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Publikováno v:
Persani, L, Cools, M, Ioakim, S, Ahmed, S F, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367
ENDOCRINE CONNECTIONS
Scientia
Endocrine Connections, 11(12):e220367. Bioscientifica Ltd
Persani, L, Cools, M, Ioakim, S, Faisal Ahmed, S, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367
ENDOCRINE CONNECTIONS
Scientia
Endocrine Connections, 11(12):e220367. Bioscientifica Ltd
Persani, L, Cools, M, Ioakim, S, Faisal Ahmed, S, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367
Disorders of sex development; Next-generation sequencing; Primary ovarian insufficiency Trastornos del desarrollo sexual; Secuenciación de próxima generación; Insuficiencia ovárica primaria Trastorns del desenvolupament sexual; Seqüenciació de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bf22d3a829ee297bbeee0b4ae6bc974
https://curis.ku.dk/ws/files/345685724/2049_3614_EC_22_0367.pdf
https://curis.ku.dk/ws/files/345685724/2049_3614_EC_22_0367.pdf
Publikováno v:
J Pediatr Genet
Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. Pontocerebellar hypoplasia type 1B is caused by mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::233f360e41c3337f74f4bec074d88d00
https://europepmc.org/articles/PMC9385256/
https://europepmc.org/articles/PMC9385256/
Autor:
Radoslava Vazharova, Draga Toncheva, Iliana Pacheva, Samuil Ivanov, Maya Atanasoska, Silvia Andonova, Ivan Ivanov, Maxim Malinov, Lubomir Balabanski
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 32, Iss 6, Pp 1345-1351 (2018)
Early infantile epileptic encephalopathy (EIEE) is a disorder with variable genetic heterogeneity. Symptoms are mostly presented with generalised epileptic seizures with an infantile onset and progressive neurodevelopmental delay. Early infantile epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::031d813ea099313b915b8a78e1b72cc4
https://doi.org/10.1080/13102818.2018.1532815
https://doi.org/10.1080/13102818.2018.1532815