Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Erik, Björck"'
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background We describe the case of a 47-year-old man referred to a retinal clinic and diagnosed with late-onset retinitis pigmentosa. Surprisingly, genetic testing revealed compound heterozygous pathogenic variants in GNPTG, leading to the d
Externí odkaz:
https://doaj.org/article/b0f3728a7d6c4dc781823ff03b46ad90
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells.
Externí odkaz:
https://doaj.org/article/ce37dc9dd1244c1c8174ffec0c3246e7
Autor:
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD repr
Externí odkaz:
https://doaj.org/article/24239a4e507a406db912b81371637d5d
Autor:
Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck, Ann-Sofie Backman
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-8 (2021)
Abstract Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients enables surveillance an
Externí odkaz:
https://doaj.org/article/4b8e88df3ced4663b96628f389e7ae13
Publikováno v:
BMC Medical Education, Vol 20, Iss 1, Pp 1-11 (2020)
Abstract Background Faculty development is important for advancing teaching practice in health professions education. However, little is known regarding how faculty development outcomes are achieved and how change in practice may happen through these
Externí odkaz:
https://doaj.org/article/f627b6abbb9f4fae8c04856c0e75049c
Autor:
Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller, Christos Aravidis
Publikováno v:
PLoS ONE, Vol 17, Iss 2 (2022)
Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with B
Externí odkaz:
https://doaj.org/article/3b5909c710a74adc9dfc88517ffddffa
Autor:
Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-
Externí odkaz:
https://doaj.org/article/28a3f413457f4d019b78d4411ab50cb3
Autor:
Masoud Karimi, Jenny von Salomé, Christos Aravidis, Gustav Silander, Marie Stenmark Askmalm, Isabelle Henriksson, Samuel Gebre-Medhin, Jan-Erik Frödin, Erik Björck, Kristina Lagerstedt-Robinson, Annika Lindblom, Emma Tham
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-11 (2018)
Abstract Background Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer,
Externí odkaz:
https://doaj.org/article/1631392b4b01405c90c814a790407bbf
Autor:
Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Externí odkaz:
https://doaj.org/article/eee6431e8c694e7c921394922b231a66
Autor:
Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific EDS subtype characterized by early severe periodontal destruction and connective tissue ab
Externí odkaz:
https://doaj.org/article/6a2be9ba047d4e0baab6bc80b5e97b5c