Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Robert Petrovic"'
Autor:
Lajos Gergely, Vanda Repiska, Robert Petrovic, Miroslav Korbel, Ludovit Danihel, Jozef Sufliarsky, Michaela Kubickova, Helena Gbelcova, Petra Priscakova
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 1, Pp 73-76 (2024)
Objective: This short communication demonstrates how short tandem repeat genotyping can identify the origin of gestational choriocarcinoma. Materials and methods: The origin of gestational choriocarcinoma in our three cases was determined using the s
Externí odkaz:
https://doaj.org/article/6eb057414dbf4106bf5e455639509a7c
Autor:
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slo
Externí odkaz:
https://doaj.org/article/bdd447f54e584782960d2e7d0280fe60
Autor:
Vladimira Durmanova, Juraj Javor, Zuzana Parnicka, Gabriel Minarik, Agata Ocenasova, Barbora Vaseckova, Iliana Kiralyova, Stanislav Sutovsky, Robert Petrovic, Ivana Shawkatova
Publikováno v:
Journal of Integrative Neuroscience, Vol 21, Iss 4, p 105 (2022)
Background: Triggering receptor expressed on myeloid cells 2 (TREM2) is an important modulator of innate immune responses. In the human brain, TREM2 is primarily expressed on microglia and is involved in cell survival, phagocytosis, and regulation of
Externí odkaz:
https://doaj.org/article/05043cbaac3e464bb17ca1a78c9fb46a
Autor:
Eleni Tsiantouli, Emmanuel Biver, Thierry Chevalley, Robert Petrovic, Didier Hannouche, Serge Ferrari
Publikováno v:
Calcified Tissue International. 110:703-711
Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline phosphatase (ALP), its manifestations may include atypical femoral fractures (AFF). However, the prevalence of low serum ALP and HPP in patients with AFF remains un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f875eae1d647c8e81229c478d9b64d3e
https://doi.org/10.1007/s00223-022-00949-1
https://doi.org/10.1007/s00223-022-00949-1
Autor:
Katarina Jurickova, Petra Jungova, Robert Petrovic, Slavomira Mattosova, Tereza Hlavata, Ludmila Kostalova, Anna Hlavata
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 922
Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b160d9ddd02c9c785984233ebc129da2
https://pubmed.ncbi.nlm.nih.gov/35743707
https://pubmed.ncbi.nlm.nih.gov/35743707
Autor:
Stanislav Sutovsky, Robert Petrovic, Viera Haverlíková, Jozef Ukropec, Maria Fischerova, Barbara Ukropcova, Peter Turcani
Publikováno v:
Journal of Alzheimer's Disease
Background: Genetic risk factors play an important role in the pathogenesis of Alzheimer’s disease (AD). However, the gene-gene interaction (epistasis) between specific allelic variants is only partially understood. Objective: In our study, we exam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c794c195e3d4dd5fd99f4b85bafb6dd4
https://doi.org/10.3233/jad-200321
https://doi.org/10.3233/jad-200321
Autor:
Franco Laccone, Martina Witsch-Baumgartner, Matthias Meyer‐Wittkopf, Helga Rehder, Johannes Zschocke, Barbara Fritz, Robert Petrovic, Annette Ramaswamy, Ralf Schmitz, Jana Behunova, Katharina Schoner, Britta Kluge, Susanne Gerit Kircher, Rainer Bald
Publikováno v:
Birth Defects Research
Background Autosomal‐recessive SLOS is caused by mutations in the DHCR7 gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is oft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fc76ea07ac6734415342ad813fa634
https://doi.org/10.1002/bdr2.1620
https://doi.org/10.1002/bdr2.1620
E-business is playing a larger and more important role in today's modern business environment. In many firms, regardless of their activity or size, electronic communication has become an unavoidable part of business processes. This entails the develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd90e30ed60763ae18ee2d676ab89151
https://doi.org/10.9734/bpi/mplle/v7/11389d
https://doi.org/10.9734/bpi/mplle/v7/11389d
Autor:
Ivana Shawkatova, Robert Petrovic, Stanislav Sutovsky, Iliana Kiralyova, Barbora Vaseckova, Agata Ocenasova, Gabriel Minarik, Zuzana Parnicka, Juraj Javor, Vladimira Durmanova
Publikováno v:
Journal of Integrative Neuroscience. 21:105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ff7bc017fa92833f81081c041d42d05
https://doi.org/10.31083/j.jin2104105
https://doi.org/10.31083/j.jin2104105
Autor:
Małgorzata Stępień-Wojno, Dorota Rowczenio, Anna Kostera-Pruszczyk, Robert Petrovic, Joanna Brydak-Godowska, Jacek Grzybowski, Ján Chandoga, Marta Lipowska, Monika Gawor, Agnieszka Ptasińska-Perkowska, Hanna Drac, Philip N. Hawkins, Janusz Szewczuk, Maria Franaszczyk, Anetta Lasek-Bal, Renata Śmierciak, Janet A. Gilbertson
Publikováno v:
Neurologia i neurochirurgia polska. 54(6)
Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde596b492d1b50f293666118a4eef0c
https://pubmed.ncbi.nlm.nih.gov/33373035
https://pubmed.ncbi.nlm.nih.gov/33373035