Articles with "bernard soulier" as a keyword



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Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.

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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
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A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations

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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
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Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?

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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
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Bernard‐Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA

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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
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A case report of bernard-soulier syndrome in differential diagnosis of immune thrombocytopenic purpura

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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
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Experience of kidney transplantation to a patient with Bernard Soulier syndrome: A case report

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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