Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Mateja Smogavec"'
Autor:
Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl, Franco Laccone
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background Diprosopus is a rare malformation of still unclear aetiology. It describes a laterally double faced monocephalic and single-trunk individual and has to be distinguished from the variant Janus type diprosopus. Results We examined s
Externí odkaz:
https://doaj.org/article/15ffbb36b22a48a6baa3400af8cb7237
Autor:
Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
We describe the case of a 44-year-old male patient with a longstanding history of microhematuria and mildly impaired kidney function (CKD G2A1). The family history disclosed three females who also had microhematuria. Genetic testing by whole exome se
Externí odkaz:
https://doaj.org/article/c29a471acb98464c9f446da987eaa898
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-5 (2018)
Abstract Background Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletion
Externí odkaz:
https://doaj.org/article/d535d188fe484cd28b4eb8ac3816d931
Autor:
Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen
Publikováno v:
Cancer Medicine, Vol 7, Iss 4, Pp 1349-1358 (2018)
Abstract The prevalence of germ line mutations in non‐BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC i
Externí odkaz:
https://doaj.org/article/ef20fad57668492e8e5c076a0c75dc32
Publikováno v:
Zdravniški Vestnik, Vol 79, Iss 11 (2010)
Background: The aim of this study was to acquire data related to the prevalence of self-medication use among inhabitants of Slovenia. We focused on the use of different self-medication practices, reasons for their use, the groups that use them, and p
Externí odkaz:
https://doaj.org/article/a593303f48eb4b329d43c8c20853d56c
Publikováno v:
Zdravniški Vestnik, Vol 78, Iss 8 (2009)
Background The aim of the current study was to find out the importance of chromosomal abnormalities in infertile patients, who were sent to Laboratory of medical genetics, University Clinical Centre Maribor, Maribor for kariotyping. The obtained resu
Externí odkaz:
https://doaj.org/article/31135e2ff18f4d1883a318a699712cee
Autor:
Mateja Smogavec, Maria Gerykova Bujalkova, Reinhard Lehner, Jürgen Neesen, Jana Behunova, Gülen Yerlikaya-Schatten, Theresa Reischer, Reinhard Altmann, Denisa Weis, Hans-Christoph Duba, Franco Laccone
Publikováno v:
European Journal of Human Genetics. 30:428-438
Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy detection and microarray analysis. We present a retrospective study of 90 fetuses with different a
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Autor:
Dóra Nagy, Sarah Verheyen, Kristen M. Wigby, Artem Borovikov, Artem Sharkov, Valerie Slegesky, Austin Larson, Christina Fagerberg, Charlotte Brasch-Andersen, Maria Kibæk, Ingrid Bader, Rebecca Hernan, Frances A. High, Wendy K. Chung, Jolanda H. Schieving, Jana Behunova, Mateja Smogavec, Franco Laccone, Martina Witsch-Baumgartner, Joachim Zobel, Hans-Christoph Duba, Denisa Weis
Publikováno v:
Nagy, D, Verheyen, S, Wigby, K M, Borovikov, A, Sharkov, A, Slegesky, V, Larson, A, Fagerberg, C, Brasch-Andersen, C, Kibæk, M, Bader, I, Hernan, R, High, F A, Chung, W K, Schieving, J H, Behunova, J, Smogavec, M, Laccone, F, Witsch-Baumgartner, M, Zobel, J, Duba, H C & Weis, D 2022, ' Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring ', Genes, vol. 13, no. 1, 154 . https://doi.org/10.3390/genes13010154
Genes, Vol 13, Iss 154, p 154 (2022)
Genes
Genes, 13
Genes; Volume 13; Issue 1; Pages: 154
Genes, 13, 1
Genes, Vol 13, Iss 154, p 154 (2022)
Genes
Genes, 13
Genes; Volume 13; Issue 1; Pages: 154
Genes, 13, 1
Contains fulltext : 248217.pdf (Publisher’s version ) (Open Access) POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca05a0f3c931696be7d3915fe5458505
https://doi.org/10.3390/genes13010154
https://doi.org/10.3390/genes13010154
Autor:
Lisa S. Knaus, Bernadette Basilico, Daniel Malzl, Maria Gerykova Bujalkova, Mateja Smogavec, Lena A. Schwarz, Sarah Gorkiewicz, Nicole Amberg, Florian Pauler, Thomas Rülicke, Jörg Menche, Simon Hippenmeyer, Gaia Novarino
Publikováno v:
bioRxiv
SUMMARYSurprisingly little is known about the critical metabolic changes that neural cells have to undergo during development and how even mild, temporary shifts in this program can influence brain circuitries and behavior. Inspired by the discovery
Publikováno v:
Wiener klinische Wochenschrift Education. 14:29-47