Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A

Autor: Anna Letelier, Rolf Ljung, Anna Olsson, Nadine G. Andersson

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)

Abstract One of the challenges of genetic testing in patients with hemophilia A is the interpretation of sequence variants. Here we report a silent variant found in exon 2 in the F8 gene in a 47‐year‐old patient with a previous von Willebrand dis

Externí odkaz: https://doaj.org/article/65fba4f1b4a3429699a5059e18eb080b

Mode of delivery in hemophilia: vaginal delivery and Cesarean section carry similar risks for intracranial hemorrhages and other major bleeds

Autor: Nadine G. Andersson, Elizabeth A. Chalmers, Gili Kenet, Rolf Ljung, Anne Mäkipernaa, Hervé Chambost

Publikováno v: Haematologica, Vol 104, Iss 10 (2019)

The optimal mode of delivery for a pregnant hemophilia carrier is still a matter of debate. The aim of the study was to determine the incidence of intracranial hemorrhage and other major bleeds in neonates with moderate and severe hemophilia in relat

Externí odkaz: https://doaj.org/article/4b34997a74d240b382a6d8070c9f51b8

Long‐term joint outcomes in adolescents with moderate or severe haemophilia A

Autor: David E, Schmidt, Aikaterini, Michalopoulou, Kathelijn, Fischer, Jayashree, Motwani, Nadine G, Andersson, Helen, Pergantou, Susanna, Ranta

Publikováno v: Haemophilia. 28:1054-1061

Favourable joint outcomes are expected with modern haemophilia A (HA) management. Evaluation of long-term treatment outcomes is hampered by the delay between bleeding episodes during childhood and resulting joint outcomes in adulthood.To measure the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edbf4cb6107a4a527bf8e3691a5d182b
https://doi.org/10.1111/hae.14636

A survey on thromboprophylaxis and coagulation assessment in children and young adults with acute lymphoblastic leukaemia (ALL) in the Nordic and Baltic countries:Different practices of assessment and management

Autor: Nadine G. Andersson, Mathias Rathe, Ingolf Mølle, Kirsten Brunswig Jarvis, Marianne Hoffmann, Anu Huurre, Joel Joelsson, Birgitte Klug Albertsen, Olli Lohi, Satu Långström, Ulrik Overgaard, Sonata Saulyte Trakymiene, Kaisa Vepsäläinen, Hartmut Vogt, Susanna Ranta

Publikováno v: Andersson, N G, Rathe, M, Mølle, I, Jarvis, K B, Hoffmann, M, Huurre, A, Joelsson, J, Albertsen, B K, Lohi, O, Långström, S, Overgaard, U, Saulyte Trakymiene, S, Vepsäläinen, K, Vogt, H & Ranta, S 2022, ' A survey on thromboprophylaxis and coagulation assessment in children and young adults with acute lymphoblastic leukaemia (ALL) in the Nordic and Baltic countries : Different practices of assessment and management ', British Journal of Haematology, vol. 199, no. 1, pp. 117-121 . https://doi.org/10.1111/bjh.18397
British journal of haematology, Hoboken : Wiley, 2022, first on line, p. [1-5]

Patients undergoing treatment for acute lymphoblastic leukaemia (ALL) are at risk of coagulopathy, especially thromboembolism. We conducted a survey on practices in the assessment and management of coagulopathy during the new ALLTogether protocol in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45395d7c392f8f5d50780d3605403a86
https://pure.au.dk/portal/da/publications/a-survey-on-thromboprophylaxis-and-coagulation-assessment-in-children-and-young-adults-with-acute-lymphoblastic-leukaemia-all-in-the-nordic-and-baltic-countries(3513b88b-9b99-4f49-a15d-a022adb568ef).html

Silent variant in F8 :c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A

Autor: Anna Letelier, Rolf Ljung, Anna Olsson, Nadine G. Andersson

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)

One of the challenges of genetic testing in patients with hemophilia A is the interpretation of sequence variants. Here we report a silent variant found in exon 2 in the F8 gene in a 47‐year‐old patient with a previous von Willebrand disease (VWD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b6996bf614dfa074c2db2ad1d55733
https://doi.org/10.1002/mgg3.1856