2013
DOI: 10.1038/ejhg.2013.117
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Clinical utility gene card for: Hereditary thrombocythemia

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Cited by 8 publications
(10 citation statements)
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“… 91 Although extremely rare, congenital limb defects have been observed in families with hereditary thrombocythemia. 91 94 Graziano et al 91 analyzed the TPO gene of one such patient with hereditary thrombocythemia and congenital unilateral limb defect (proband) and found similar limb defects in his first and third offspring. In 2012, the same group reported another family with hereditary thrombocythemia and limb defects.…”
Section: Controversies In the Effect Of Tpo-ra On The Fetus And The Nmentioning
confidence: 99%
“… 91 Although extremely rare, congenital limb defects have been observed in families with hereditary thrombocythemia. 91 94 Graziano et al 91 analyzed the TPO gene of one such patient with hereditary thrombocythemia and congenital unilateral limb defect (proband) and found similar limb defects in his first and third offspring. In 2012, the same group reported another family with hereditary thrombocythemia and limb defects.…”
Section: Controversies In the Effect Of Tpo-ra On The Fetus And The Nmentioning
confidence: 99%
“…They concluded that FT has a milder clinical course than sporadic ET. Hussein et al 7 described another genetic variant of MPL (p.Ser505Asp) and noticed that it was not associated with neoplastic features, nor does it increase the risk of developing acute leukaemia. Nonetheless, it was associated with an increased risk of developing myelofibrosis among adults and elderly, but not in children.…”
Section: Introductionmentioning
confidence: 99%
“…They concluded that FT has a milder clinical course than sporadic ET. Hussein et al 7 . described another genetic variant of MPL (p. Ser505Asp ) and noticed that it was not associated with neoplastic features, nor does it increase the risk of developing acute leukaemia.…”
Section: Introductionmentioning
confidence: 99%
“…9,10 Therefore, these recent reports of germline JAK2 mutations in HT compel the incorporation of JAK2 gene analysis, including at least those exons that encode the pseudo-kinase and kinase domains, into the molecular diagnostic algorithm for suspected HT. 11 It is likely that further HT kindreds harbouring other JAK2 mutations will be discovered, with increasing characterization likely to improve our understanding of the genotype-phenotype relationship in both HT and MPN; the immediate goal being able to select appropriately targeted, JAK2 pathway inhibitor therapies currently available or in development for MPN patients.…”
mentioning
confidence: 99%