Literature DB >> 22397670

Germline JAK2 mutation in a family with hereditary thrombocytosis.

Adam J Mead, Michelle J Rugless, Sten Eirik W Jacobsen, Anna Schuh.   

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Year:  2012        PMID： 22397670     DOI： 10.1056/NEJMc1200349

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  30 in total

Review 1.  Primary thrombocytosis in children.

Authors:  Nicole Kucine; Katherine M Chastain; Michelle B Mahler; James B Bussel
Journal:  Haematologica       Date:  2014-04       Impact factor: 9.941

2.  Clinical utility gene card for: hereditary thrombocythemia.

Authors:  Kais Hussein; Melanie Percy; Mary Frances McMullin; Jiří Schwarz; Susanne Schnittger; Naomi Porret; Luz Maria Martinez-Aviles; Beatriz Bellosillo Paricio; Stéphane Giraudier; Radek Skoda; Eric Lippert; Sylvie Hermouet; Holger Cario
Journal:  Eur J Hum Genet       Date:  2013-06-05       Impact factor: 4.246

3.  Inherited predisposition to myeloproliferative neoplasms.

Authors:  Amy V Jones; Nicholas C P Cross
Journal:  Ther Adv Hematol       Date:  2013-08

4.  Essential thrombocytosis attributed to JAK2-T875N germline mutation.

Authors:  Makoto Yoshimitsu; Miho Hachiman; Yuichiro Uchida; Naosuke Arima; Akihiko Arai; Yuhei Kamada; Kotaro Shide; Masafumi Ito; Kazuya Shimoda; Kenji Ishitsuka
Journal:  Int J Hematol       Date:  2019-08-19       Impact factor: 2.490

5.  Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Authors:  Lucie Lanikova; Olga Babosova; Sabina Swierczek; Linghua Wang; David A Wheeler; Vladimir Divoky; Vladimir Korinek; Josef T Prchal
Journal:  Blood       Date:  2016-09-19       Impact factor: 22.113

6.  Germline JAK2 L611S mutation in a child with thrombocytosis.

Authors:  Bernard Aral; Martine Courtois; Sylviane Ragot; Valentin Bourgeois; Elodie Bottolier-Lemallaz; Claire Briandet; François Girodon
Journal:  Haematologica       Date:  2018-03-22       Impact factor: 9.941

7.  Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Authors:  Jelena D Milosevic Feenstra; Harini Nivarthi; Heinz Gisslinger; Emilie Leroy; Elisa Rumi; Ilyas Chachoua; Klaudia Bagienski; Blanka Kubesova; Daniela Pietra; Bettina Gisslinger; Chiara Milanesi; Roland Jäger; Doris Chen; Tiina Berg; Martin Schalling; Michael Schuster; Christoph Bock; Stefan N Constantinescu; Mario Cazzola; Robert Kralovics
Journal:  Blood       Date:  2015-09-30       Impact factor: 22.113

8.  Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.

Authors:  Andreea Ilinca; Nicolas Martinez-Majander; Sofie Samuelsson; Paul Piccinelli; Katarina Truvé; John Cole; Steven Kittner; Maria Soller; Ulf Kristoffersson; Turgut Tatlisumak; Andreas Puschmann; Jukka Putaala; Arne Lindgren
Journal:  Stroke       Date:  2020-03-16       Impact factor: 7.914

9.  JAK2 mutations to the fore in hereditary thrombocythemia.

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

10.  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
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