Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young—FGF-21 Highly Associated with Overt Disease

Autor: Anna Wålinder Österberg, Ingegerd Östman-Smith, Henrik Green, Cecilia Gunnarsson, Mats Fredrikson, Petru Liuba, Eva Fernlund

Publikováno v: Journal of Cardiovascular Development and Disease, Vol 11, Iss 4, p 105 (2024)

Background: Any difference in biomarkers between genotype-positive individuals with overt hypertrophic cardiomyopathy (HCM), and genotype-positive but phenotype-negative individuals (G+P-) in HCM-associated pathways might shed light on pathophysiolog

Externí odkaz: https://doaj.org/article/929412b96f7b42c49081ef5a7bfee495

Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

Autor: Svea Horn, Magdalena Danyel, Nina Erdmann, Felix Boschann, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Christine Prager, Angela M. Kaindl

Publikováno v: Frontiers in Neurology, Vol 13 (2023)

Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly i

Externí odkaz: https://doaj.org/article/a99bee8f55f24995aa90dec2bd17a2b6

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

Autor: Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson

Publikováno v: ESC Heart Failure, Vol 7, Iss 3, Pp 1210-1216 (2020)

Abstract Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder

Externí odkaz: https://doaj.org/article/92cfb6bf59f7473f9328079f3ea55a89

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Autor: Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam

Publikováno v: European journal of medical genetics, 66(7):104754. Elsevier Masson SAS
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩

International audience; Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of Eu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f86e321faa2747a743e5105b4d414b
https://pure.amc.nl/en/publications/definition-and-clinical-variability-of-shank3related-phelanmcdermid-syndrome(b728fe2b-83e2-49d7-b696-846b60d89de8).html

Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies

Autor: Emma, Adolfsson, Daniel, Kling, Cecilia, Gunnarsson, Jon, Jonasson, Henrik, Gréen, Anna, Gréen

Publikováno v: International journal of legal medicine.

Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8e4eb68721355e79a7bd8c78ccfb50e6
https://pubmed.ncbi.nlm.nih.gov/36346469