Literature DB >> 17768118

Inherited thrombocytopenias.

Alan T Nurden, Paquita Nurden.   

Abstract

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Year:  2007        PMID： 17768118     DOI： 10.3324/haematol.11256

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  8 in total

1.  Busy signal: platelet-derived growth factor activation in myelofibrosis.

Authors:  Anna E Marneth; Ann Mullally
Journal:  Haematologica       Date:  2020-08       Impact factor: 9.941

Review 2.  [Differential diagnosis and treatment of thrombocytopenia].

Authors:  V Kiefel; A Greinacher
Journal:  Internist (Berl)       Date:  2010-11       Impact factor: 0.743

3.  Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Authors:  Tommaso Pippucci; Anna Savoia; Silverio Perrotta; Núria Pujol-Moix; Patrizia Noris; Giovanni Castegnaro; Alessandro Pecci; Chiara Gnan; Francesca Punzo; Caterina Marconi; Samuele Gherardi; Giuseppe Loffredo; Daniela De Rocco; Saverio Scianguetta; Serena Barozzi; Pamela Magini; Valeria Bozzi; Luca Dezzani; Mariateresa Di Stazio; Marcella Ferraro; Giovanni Perini; Marco Seri; Carlo L Balduini
Journal:  Am J Hum Genet       Date:  2011-01-07       Impact factor: 11.025

4.  Mutation in GNE is associated with severe congenital thrombocytopenia.

Authors:  Jane Futterer; Amanda Dalby; Gillian C Lowe; Ben Johnson; Michael A Simpson; Jayashree Motwani; Mike Williams; Steve P Watson; Neil V Morgan
Journal:  Blood       Date:  2018-06-25       Impact factor: 22.113

5.  Evaluation of the immature platelet fraction contribute to the differential diagnosis of hereditary, immune and other acquired thrombocytopenias.

Authors:  F L B Ferreira; M P Colella; S S Medina; C Costa-Lima; M M L Fiusa; L N G Costa; F A Orsi; J M Annichino-Bizzacchi; K Y Fertrin; M F P Gilberti; M C Ozelo; E V De Paula
Journal:  Sci Rep       Date:  2017-06-13       Impact factor: 4.379

6.  Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.

Authors:  Sarah J Fletcher; Vera P Pisareva; Abdullah O Khan; Andrew Tcherepanov; Neil V Morgan; Andrey V Pisarev
Journal:  RNA       Date:  2018-04-20       Impact factor: 4.942

7.  Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.

Authors:  Qi Wang; Lijuan Cao; Guangying Sheng; Hongjie Shen; Jing Ling; Jundan Xie; Zhenni Ma; Jie Yin; Zhaoyue Wang; Ziqiang Yu; Suning Chen; Yiming Zhao; Changgeng Ruan; Lijun Xia; Miao Jiang
Journal:  Clin Appl Thromb Hemost       Date:  2018-08-13       Impact factor: 2.389

8.  SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

Authors:  Sarah J Fletcher; Ben Johnson; Gillian C Lowe; Danai Bem; Sian Drake; Marie Lordkipanidzé; Isabel Sánchez Guiú; Ban Dawood; José Rivera; Michael A Simpson; Martina E Daly; Jayashree Motwani; Peter W Collins; Steve P Watson; Neil V Morgan
Journal:  J Clin Invest       Date:  2015-08-17       Impact factor: 19.456
  8 in total

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