Literature DB >> 23736217

Clinical utility gene card for: hereditary thrombocythemia.

Kais Hussein1, Melanie Percy2, Mary Frances McMullin3, Jiří Schwarz4, Susanne Schnittger5, Naomi Porret6, Luz Maria Martinez-Aviles7, Beatriz Bellosillo Paricio7, Stéphane Giraudier8, Radek Skoda9, Eric Lippert10, Sylvie Hermouet11, Holger Cario12.   

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Year:  2013        PMID： 23736217      PMCID： PMC3895637          DOI： 10.1038/ejhg.2013.117

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  26 in total

1.  Benign familial microcytic thrombocytosis with autosomal dominant transmission.

Authors:  N Cohen; D Almoznino-Sarafian; J Weissgarten; I Alon; R Zaidenstein; V Dishi; N Rahimi-Levene; K Fried; D Modai; A Golik
Journal:  Clin Genet       Date:  1997-07       Impact factor: 4.438

2.  A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

Authors:  Chloé James; Valérie Ugo; Jean-Pierre Le Couédic; Judith Staerk; François Delhommeau; Catherine Lacout; Loïc Garçon; Hana Raslova; Roland Berger; Annelise Bennaceur-Griscelli; Jean Luc Villeval; Stefan N Constantinescu; Nicole Casadevall; William Vainchenker
Journal:  Nature       Date:  2005-04-28       Impact factor: 49.962

3.  Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene.

Authors:  N Ghilardi; A Wiestner; M Kikuchi; A Ohsaka; R C Skoda
Journal:  Br J Haematol       Date:  1999-11       Impact factor: 6.998

4.  Familial essential thrombocythemia: clinical characteristics of 11 cases in one family.

Authors:  R J Schlemper; A P van der Maas; J C Eikenboom
Journal:  Ann Hematol       Date:  1994-03       Impact factor: 3.673

5.  An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

Authors:  A Wiestner; R J Schlemper; A P van der Maas; R C Skoda
Journal:  Nat Genet       Date:  1998-01       Impact factor: 38.330

6.  Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis.

Authors:  Alison R Moliterno; Donna M Williams; Laura I Gutierrez-Alamillo; Roberto Salvatori; Roxann G Ingersoll; Jerry L Spivak
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-21       Impact factor: 11.205

7.  Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.

Authors:  Jianmin Ding; Hirokazu Komatsu; Atsushi Wakita; Miyuki Kato-Uranishi; Masato Ito; Atsushi Satoh; Kazuya Tsuboi; Masakazu Nitta; Hiroshi Miyazaki; Shinsuke Iida; Ryuzo Ueda
Journal:  Blood       Date:  2004-02-05       Impact factor: 22.113

8.  Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene.

Authors:  T Kondo; M Okabe; M Sanada; M Kurosawa; S Suzuki; M Kobayashi; M Hosokawa; M Asaka
Journal:  Blood       Date:  1998-08-15       Impact factor: 22.113

9.  Familial thrombocytosis.

Authors:  M Kikuchi; T Tayama; H Hayakawa; I Takahashi; H Hoshino; A Ohsaka
Journal:  Br J Haematol       Date:  1995-04       Impact factor: 6.998

10.  Germline JAK2 mutation in a family with hereditary thrombocytosis.

Authors:  Adam J Mead; Michelle J Rugless; Sten Eirik W Jacobsen; Anna Schuh
Journal:  N Engl J Med       Date:  2012-03-08       Impact factor: 91.245
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  3 in total

1.  Chasing down the triple-negative myeloproliferative neoplasms: Implications for molecular diagnostics.

Authors:  Stephen E Langabeer
Journal:  JAKSTAT       Date:  2016-11-14

2.  JAK2 mutations to the fore in hereditary thrombocythemia.

Authors:  Stephen E Langabeer
Journal:  JAKSTAT       Date:  2014-10-30

3.  Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

Authors:  Stephen E Langabeer; Karl Haslam; Jennifer Linders; Melanie J Percy; Eibhlin Conneally; Amjad Hayat; Brian Hennessy; Maeve Leahy; Karen Murphy; Margaret Murray; Fionnuala Ni Ainle; Patrick Thornton; Jeremy Sargent
Journal:  Fam Cancer       Date:  2014-12       Impact factor: 2.375
  3 in total

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