Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Line Borgwardt"'
Autor:
Sara Bohnstedt Mørup, Preston Leung, Cavan Reilly, Brad T. Sherman, Weizhong Chang, Maja Milojevic, Ana Milinkovic, Angelike Liappis, Line Borgwardt, Kathy Petoumenos, Roger Paredes, Shweta S. Mistry, Cameron R. MacPherson, Jens Lundgren, Marie Helleberg, Joanne Reekie, Daniel D. Murray, for the INSIGHT FIRST and START study groups
Publikováno v:
AIDS Research and Therapy, Vol 21, Iss 1, Pp 1-14 (2024)
Abstract Background Human genetic contribution to HIV progression remains inadequately explained. The type 1 interferon (IFN) pathway is important for host control of HIV and variation in type 1 IFN genes may contribute to disease progression. This s
Externí odkaz:
https://doaj.org/article/8aa261a5c95940b6ad7f4516bcd362c8
Autor:
Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-16 (2024)
Abstract Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most g
Externí odkaz:
https://doaj.org/article/bdac98f0449e44859e7474c9ecbed628
Autor:
Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100014- (2023)
Externí odkaz:
https://doaj.org/article/1bae87a6f6674e5dbe3f38584fe8b2dc
Autor:
Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100003- (2023)
Externí odkaz:
https://doaj.org/article/48842969715f4642b3ff6e32e3b9c66b
Autor:
Simone Diedrichsen Marstrand, Charlotte Landbo Tofteng, Anne Jarløv, Line Borgwardt, Peter Schwarz
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Abstract Background Primary hyperparathyroidism (PHPT) is a common endocrine disorder and the most frequent benign cause of hypercalcemia. PHPT is characterized by autonomous hypersecretion of parathyroid hormone (PTH), regardless of serum calcium le
Externí odkaz:
https://doaj.org/article/8d21c079855745b4a10b823eab9ce3eb
Autor:
Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V. Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Terese L. Katzenstein, Tania N. Masmas, Jens Lundgren, Daniel D. Murray, Marie Helleberg, Line Borgwardt
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundKnowledge of the genetic variation underlying Primary Immune Deficiency (PID) is increasing. Reanalysis of genome-wide sequencing data from undiagnosed patients with suspected PID may improve the diagnostic rate.MethodsWe included patients
Externí odkaz:
https://doaj.org/article/2e05dd59a171477cb2f3ab6549040ea7
Autor:
Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velma
Externí odkaz:
https://doaj.org/article/90630bbf711a4b969e8a97693805faa5
Autor:
Ailsa Maria Main, Maria Rossing, Line Borgwardt, Birgitte Grønkær Toft, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen
Publikováno v:
Endocrine Connections, Vol 9, Iss 8, Pp 793-803 (2020)
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system which often secrete catecholamines. Variants of the SDHX (SDHA, -AF2, -B, -C, -D) genes are a frequent cause of familial PPG
Externí odkaz:
https://doaj.org/article/3fa304e469fc41b8968532d4986a7017
Autor:
Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe, Morten Møller Poulsen, Filipe G. Vieira, Jes Sloth Mathiesen, Maria Rossing
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Activating variants in the receptor tyrosine kinase REarranged during Transfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was
Externí odkaz:
https://doaj.org/article/c8956c858a2e49a5a601b88ae41a02d3
Autor:
Camilla Heldbjerg Drabe, Rasmus L. Marvig, Line Borgwardt, Jens D. Lundgren, Hanne Vibeke Hansen Maquart, Terese Lea Katzenstein, Marie Helleberg
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
A previously healthy 19-year-old Syrian man presented with atypical and severe mucosal leishmaniasis caused by Leishmania tropica. During a 2-year period, he had three severe relapses despite various treatment strategies, including liposomal amphoter
Externí odkaz:
https://doaj.org/article/46bac5692dfe4fbd962d9ec719719477