Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sofia Frisk"'
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing i
Externí odkaz:
https://doaj.org/article/96cebae7c62045a88a31471616db7dd4
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene‑Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger‑Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf‑Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/cc63cf2072d440f7ae2985dfe1cfb842
Autor:
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher. S
Externí odkaz:
https://doaj.org/article/d92f1dcc8f8747edad52176180df7ee1
Autor:
Emeli, Pontén, Sofia, Frisk, Fulya, Taylan, Raquel, Vaz, Sandra, Wessman, Leanne, de Kock, Niklas, Pal, William D, Foulkes, Kristina, Lagerstedt-Robinson, Ann, Nordgren
Publikováno v:
Journal of Medical Genetics
Background Germline pathogenic variants in DICER1 cause DICER1 syndrome, an autosomal dominant, pleiotropic tumour predisposition syndrome with variable expressivity and reduced penetrance for specific dysplastic and neoplastic lesions. Recently, a s
Autor:
Dimitris Chatzianastassiou, Karin Popovic Silwerfeldt, Catherine Grandpeix-Guyodo, Irina Magnusson, Tobias Laurell, Sofia Frisk, Ann Nordgren, Helgi Thor Hjartarson
Publikováno v:
Clinical Case Reports
Key Clinical Message Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phen
Autor:
Inger Nennesmo, Izabela Blaszczyk, Bianca Tesi, Sofia Frisk, Bettina Herm, Ann Nordgren, Fulya Taylan, Göran Annerén, Vasilios Zachariadis, Anna Lindstrand, Eva-Lena Stattin, Tobias Laurell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ec30b9fd736e287eb32cfd29056cab2
https://doi.org/10.1111/cge.13543/v2/response1
https://doi.org/10.1111/cge.13543/v2/response1
Autor:
Vasilios Zachariadis, Anna Lindstrand, Bianca Tesi, Izabela Blaszczyk, Eva-Lena Stattin, Tobias Laurell, Bettina Herm, Inger Nennesmo, Göran Annerén, Fulya Taylan, Sofia Frisk, Ann Nordgren
Publikováno v:
Clinical Genetics
PIK3CA‐related overgrowth spectrum is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic PIK3CA mutations. Here, we report clinical data and molecular findings from two patients with congenital muscular upper limb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eec4fa713bb1b5b8e103c4e8219af09
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-390499
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-390499
Publikováno v:
Biophysical Journal. 102(3)
The lower liability of atypical antipsychotics to produce side-effects correlates with their faster rates of dissociation from the dopamine D2 receptor. Recent studies indicate that the novel D2 ligands, ACR16 and OSU6162, act as antagonists with sim
Autor:
Daniel Marcellino, Kjell Fuxe, Peter Århem, Johanna Nilsson, Sofia Frisk, Kristoffer Sahlholm, Sven Ove Ögren
Publikováno v:
Biophysical Journal. 104:26a
All antipsychtics currently in clinical use are antagonists or weak partial agonists at the dopamine D2 receptor (D2R). Antipsychotic medication is associated with adverse effects such as extrapyramidal symptoms (EPS). The lower EPS liability of newe