Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Nadja Kokalj-Vokac"'
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
A variety of commercially available urinary molecular markers have been introduced for detecting and monitoring urothelial carcinoma (UC). We prospectively evaluated the UroVysionTM Bladder Cancer Kit (FISH) and the Xpert® Bladder Cancer Detection (
Externí odkaz:
https://doaj.org/article/665665d8597745de93942d73bbb114a3
Autor:
Danijela Krgovic, Mario Gorenjak, Nika Rihar, Iva Opalic, Spela Stangler Herodez, Hojka Gregoric Kumperscak, Peter Dovc, Nadja Kokalj Vokac
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WE
Externí odkaz:
https://doaj.org/article/56792fe92daa4880b46113f111c64a01
Autor:
Hojka Gregoric Kumperscak, Danijela Krgovic, Maja Drobnic Radobuljac, Nina Senica, Andreja Zagorac, Nadja Kokalj Vokac
Publikováno v:
Frontiers in Psychiatry, Vol 11 (2021)
Introduction: Early-onset schizophrenia (EOS) and bipolar disorder (EOB) start before the age of 18 years and have a more severe clinical course, a worse prognosis, and a greater genetic loading compared to the late-onset forms. Copy number variation
Externí odkaz:
https://doaj.org/article/50f54d481d8f467496f521c24e5c7d2b
Autor:
Andreja Golub, Nina Prepeluh, Andreja Zagorac, Boris Zagradišnik, Nadja Kokalj Vokac, Bojan Korpar
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-5 (2018)
BMC Pediatrics
BMC Pediatrics
Background Microphthalmia with linear skin defects (MLS) syndrome is a rare neurodevelopmental X-dominant disorder. It presents in females as it is normally lethal in males. Three causative genes for MLS syndrome (OMIM 309801) have been identified al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b8c4399aa0362412a2496bb7904d21
http://link.springer.com/article/10.1186/s12887-018-1234-4
http://link.springer.com/article/10.1186/s12887-018-1234-4
Autor:
Yajuan Liu, Allen N. Lamb, Jeanne Meck, Zoe K Lewis, Jennifer N. Sanmann, Linda Haglund-Hazy, Brian Bunke, Denae M. Golden, Christin D. Collins, Marwan K. Tayeh, Erica F. Andersen, Cassandra K. Runke, Dimitri J. Stavropoulos, Whitney Neufeld-Kaiser, Emma Strong, Guang Li, Yao Shan Fan, Meng Su, Andrew Merz, McKinsey L. Goodenberger, Tristan Nelson, Todd Ackley, Christa Lese Martin, Erik C. Thorland, Danijela Krgovic, Erin Rooney Riggs, Morag N. Collinson, Nadja Kokalj Vokac
Publikováno v:
Hum Mutat
Conflict resolution in genomic variant interpretation is a critical step towards improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus on gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472f4808747a9db5a43076253ef88a52
https://europepmc.org/articles/PMC7374944/
https://europepmc.org/articles/PMC7374944/
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-7 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-7 (2018)
Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microdupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4f459ca4e1b11e142cef7a1c8c5be1
https://pubmed.ncbi.nlm.nih.gov/29930340
https://pubmed.ncbi.nlm.nih.gov/29930340
Publikováno v:
The Journal of International Medical Research
Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc4efc0c5b816c92d4a8b1d1ec12f88
https://doi.org/10.1177/0300060515595651
https://doi.org/10.1177/0300060515595651
Publikováno v:
Brain and Development. 37:868-873
Purpose of the study To reassess the predictive role of clinical parameters and epileptiform paroxysmal EEG abnormalities for subsequent epilepsy in patients with febrile seizures. Patients and methods 179 patients with febrile seizures were included
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7d3c158ce8bce328e59e856b9c2e53
https://doi.org/10.1016/j.braindev.2015.02.005
https://doi.org/10.1016/j.braindev.2015.02.005
Autor:
Špela Stangler Herodež, Danijela Krgovic, Boris Zagradišnik, Andreja Zagorac, Bogdan Ćižmarević, Nadja Kokalj Vokac
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)
Background Copy number variations (CNSs) of large genomic regions are an important mechanism implicated in the development of head and neck cancer, however, for most changes their exact role is not well understood. The aim of this study was to find p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f876f4c24638cf6006388fc75c5b1ca
https://doi.org/10.1186/s13039-018-0354-8
https://doi.org/10.1186/s13039-018-0354-8
Publikováno v:
Thrombosis Research. 132:e86-e93
Background The inherited JAK2 46/1 haplotype is strongly associated with the development of myeloproliferative neoplasms (MPNs), and its increased frequency has also been reported in splanchnic venous thrombosis (SVT). In the present study, the role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176a05458dc8f3cf7acbe46ca1beb9b9
https://doi.org/10.1016/j.thromres.2013.06.021
https://doi.org/10.1016/j.thromres.2013.06.021