Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Alexandra Frohne"'
Autor:
Leo Kager, Raúl Jimenez‐Heredia, Petra Zeitlhofer, Wolfgang Novak, Sebastian K. Eder, Anna Segarra‐Roca, Alexandra Frohne, Karin Nebral, Matthias Haimel, René Geyeregger, Katharina Roetzer‐Londgin, Oskar A. Haas, Kaan Boztug
Publikováno v:
HemaSphere, Vol 8, Iss 1, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/1389b30af5c249f6b082f2f8426229cf
Autor:
Wolfgang Novak, Alexandra Frohne, Susanne Karlhuber, Raúl Jimenez-Heredia, Leo Kager, Michael Dworzak, Kaan Boztug
Publikováno v:
EJC Paediatric Oncology, Vol 2, Iss , Pp 100086- (2023)
Externí odkaz:
https://doaj.org/article/30e9ea6d51af4ccebe56bbfc793612a7
Autor:
Mazdak Fallahi, Mahnaz Jamee, Javad Enayat, Fahimeh Abdollahimajd, Mehrnaz Mesdaghi, Maliheh Khoddami, Anna Segarra-Roca, Alexandra Frohne, Jasmin Dmytrus, Mohammad Keramatipour, Mahboubeh Mansouri, Golnaz Eslamian, Shahrzad Fallah, Kaan Boztug, Zahra Chavoshzadeh
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 18, Iss 1, Pp 1-9 (2022)
Abstract Background Bullous pemphigoid is the most common autoimmune subepidermal blistering disorder with a low incidence in childhood. Combined immunodeficiencies (CIDs) are a group of monogenic inborn errors of immunity (IEIs) characterized by T-
Externí odkaz:
https://doaj.org/article/b250d0026bbb4f12b69b30110bb1542c
Autor:
Martin Koenighofer, Thomas Parzefall, Alexandra Frohne, Matthew Allen, Ursula Unterberger, Franco Laccone, Christian Schoefer, Klemens Frei, Trevor Lucas
Publikováno v:
Clinical and Experimental Otorhinolaryngology, Vol 12, Iss 4, Pp 405-411 (2019)
Objectives Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused by variants in endoglin (ENG) an
Externí odkaz:
https://doaj.org/article/2bfc308fff304b45aeaf0a5b978a2b9c
Autor:
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Juergen Neesen, Franco Laccone, Julia Eckl-Dorna, Jonathan J. Waters, Markus Schreiner, Sami Samir Amr, Emma Ashton, Christian Schoefer, Wolfgang Gstœttner, Klemens Frei, Trevor Lucas
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
Background: Hereditary hearing loss is a disorder with high genetic and allelic heterogeneity. Diagnostic screening of candidate genes commonly yields novel variants of unknown clinical significance. TBC1D24 is a pleiotropic gene associated with rece
Externí odkaz:
https://doaj.org/article/16015d4b45144763b1c1e2ac0e3f6326
Autor:
Nima Rezaei, Shaghayegh Khanmohammadi, Samaneh Zoghi, Elham Rayzan, Sepideh Shahkarami, Raul Jimenez Heredia, Alexandra Frohne, Simin Seyedpour, Kaan Boztug
Publikováno v:
Current Pharmacogenomics and Personalized Medicine. 19:112-117
Background: Juvenile myelomonocytic leukemia (JMML) is a rare childhood disease characterized by hepatosplenomegaly, monocytosis, anemia, increased white blood cell count, thrombocytopenia, skin infiltration, and elevated fetal hemoglobin. Mutation i
Autor:
Ceyda Tuna Kırsaçlıoğlu, Alexandra Frohne, Zarife Kuloğlu, Engin Demir, Cansu Altuntaş, Zehra Şule Haskoloğlu, Fatma Nazan Çobanoğlu, Tanıl Kendirli, Halil Özdemir, Zeynep Birsin Özçakar, Berna Savaş, Figen Doğu, Aydan İkincioğulları, Kaan Boztuğ, Aydan Kansu
The monogenic causes of very early-onset inflammatory bowel disease (VEO-IBD) have been defined by advanced genetic studies, which were usually related to primary immunodeficiencies. Receptor-interacting serine/threonine-protein kinase-1 RIPK-1 prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45b6d49de0bf681b1f8b962bc8599b13
https://doi.org/10.21203/rs.3.rs-2632287/v1
https://doi.org/10.21203/rs.3.rs-2632287/v1
Autor:
Trevor Lucas, Christian Schoefer, Franco Laccone, Thomas Parzefall, Martin Koenighofer, Patricia Feil, Alexandra Frohne, Elisabeth Frei, Klemens Frei
Publikováno v:
Clinical Otolaryngology
Objective Identification of variations in tumour suppressor genes encoding the tetrameric succinate dehydrogenase (SDHx) mitochondrial enzyme complex may lead to personalised therapeutic concepts for the orphan disease, familial paraganglioma (PGL) t
Autor:
Alexandra Frohne, Martin Koenighofer, Hakan Cetin, Michael Nieratschker, David T. Liu, Franco Laccone, Juergen Neesen, Stefan F. Nemec, Ursula Schwarz-Nemec, Christian Schoefer, Karen B. Avraham, Klemens Frei, Katharina Grabmeier-Pfistershammer, Bernhard Kratzer, Klaus Schmetterer, Winfried F. Pickl, Thomas Parzefall
Publikováno v:
Human genetics.
Loss-of-function variants in AP3D1 have been linked to Hermansky–Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abnor
Autor:
Martin Koenighofer, Franco Laccone, Trevor Lucas, David T. Liu, Klemens Frei, Juergen Neesen, Alexandra Frohne, Christian Schoefer, Wolfgang Gstoettner, Thomas Parzefall
Publikováno v:
Otology & Neurotology. 42:e648-e657
Introduction Genetic hearing loss (HL) is often monogenic. Whereas more than half of autosomal recessive (AR) cases in Austria are caused by mutations in a single gene, no disproportionately frequent contributing genetic factor has been identified in