Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.02.001
Abstract: Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from… read more here.
Keywords: bernard soulier; soulier syndrome; pluripotent stem; induced pluripotent ... See more keywords
A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.30
Abstract: Bernard–Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and… read more here.
Keywords: syndrome two; bernard soulier; soulier syndrome; case bernard ... See more keywords
Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?
Sign Up to like & getrecommendations! Published in 2018 at "Platelets"
DOI: 10.1080/09537104.2017.1371288
Abstract: Abstract Bernard–Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding. This rare disease, initially described in the 1970s, is the result of an abnormal formation… read more here.
Keywords: bernard soulier; variants uncertain; gp9; soulier syndrome ... See more keywords
Bernard‐Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA
Sign Up to like & getrecommendations! Published in 2018 at "Haemophilia"
DOI: 10.1111/hae.13365
Abstract: of VWF:RCo/VWF:Ag was normal in the proband’s parents. Acquired von Willebrand syndrome (AVWS) related tests, such as lymphoproliferative, rheumatism and autoimmune antibody testing, were normal. Further investigation of the cause of AVWS may be of… read more here.
Keywords: mutation; bernard soulier; pakistan biochemical; soulier syndrome ... See more keywords
A case report of bernard-soulier syndrome in differential diagnosis of immune thrombocytopenic purpura
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Approximate Reasoning"
DOI: 10.21474/ijar01/3029
Abstract: Bernard-Soulier Syndrome (BSS)is a rare hereditary disorder.Platelets in patients with BSS are unable to adhere, leading to an increased bleeding tendency. BSS cases are often misdiagnosed as idiopathic thrombocytopenic purpura (ITP). We report here a… read more here.
Keywords: bernard soulier; soulier syndrome; thrombocytopenic purpura; case report ... See more keywords
Experience of kidney transplantation to a patient with Bernard Soulier syndrome: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Turkish Journal of Surgery"
DOI: 10.47717/turkjsurg.2022.4567
Abstract: Renal transplantation could be a challenging operation in patients with haemorrhagic diathesis, with predictable difficulties or even with unpredictable hurdles. Bernard Soulier Syndrome (BSS) is one of the ethiologies of the thrombocytopenia and it is… read more here.
Keywords: transplantation patient; experience kidney; bernard soulier; transplantation ... See more keywords