Literature DB >> 25638803

Inherited thrombocytopenias in the era of personalized medicine.

Patrizia Noris1, Carlo L Balduini2.   

Abstract

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Year:  2015        PMID： 25638803      PMCID： PMC4803125          DOI： 10.3324/haematol.2014.122549

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


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Journal:  Semin Thromb Hemost       Date:  2011-11-18       Impact factor: 4.180

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Authors:  Elena Liew; Carolyn Owen
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3.  Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.

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Journal:  J Pediatr Hematol Oncol       Date:  2010-08       Impact factor: 1.289

4.  Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Authors:  Meral Gunay-Aygun; Yifat Zivony-Elboum; Fatma Gumruk; Dan Geiger; Mualla Cetin; Morad Khayat; Robert Kleta; Nehama Kfir; Yair Anikster; Judith Chezar; Mauricio Arcos-Burgos; Adel Shalata; Horia Stanescu; Joseph Manaster; Mutlu Arat; Hailey Edwards; Andrew S Freiberg; P Suzanne Hart; Lauren C Riney; Katherine Patzel; Pranoot Tanpaiboon; Tom Markello; Marjan Huizing; Irina Maric; McDonald Horne; Beate E Kehrel; Kerstin Jurk; Nancy F Hansen; Praveen F Cherukuri; Marypat Jones; Pedro Cruz; Jim C Mullikin; Alan Nurden; James G White; William A Gahl; Tzippora Falik-Zaccai
Journal:  Blood       Date:  2010-08-13       Impact factor: 22.113

5.  Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.

Authors:  Alessandro Pecci; Paolo Gresele; Catherine Klersy; Anna Savoia; Patrizia Noris; Tiziana Fierro; Valeria Bozzi; Anna Maria Mezzasoma; Federica Melazzini; Carlo L Balduini
Journal:  Blood       Date:  2010-09-15       Impact factor: 22.113

Review 6.  Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Authors:  Carlo L Balduini; Alessandro Pecci; Anna Savoia
Journal:  Br J Haematol       Date:  2011-05-04       Impact factor: 6.998

Review 7.  Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.

Authors:  Amy E Geddis
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722

8.  Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Authors:  Patrizia Noris; Silverio Perrotta; Marco Seri; Alessandro Pecci; Chiara Gnan; Giuseppe Loffredo; Nuria Pujol-Moix; Marco Zecca; Francesca Scognamiglio; Daniela De Rocco; Francesca Punzo; Federica Melazzini; Saverio Scianguetta; Maddalena Casale; Caterina Marconi; Tommaso Pippucci; Giovanni Amendola; Lucia D Notarangelo; Catherine Klersy; Elisa Civaschi; Carlo L Balduini; Anna Savoia
Journal:  Blood       Date:  2011-04-05       Impact factor: 22.113

9.  ANKRD26-related thrombocytopenia and myeloid malignancies.

Authors:  Patrizia Noris; Remi Favier; Marie-Christine Alessi; Amy E Geddis; Shinji Kunishima; Paula G Heller; Paola Giordano; Karen Y Niederhoffer; James B Bussel; Gian Marco Podda; Nicola Vianelli; Rogier Kersseboom; Alessandro Pecci; Chiara Gnan; Caterina Marconi; Anne Auvrignon; William Cohen; Jennifer C Yu; Akihiro Iguchi; Allison Miller Imahiyerobo; Francoise Boehlen; Dorsaf Ghalloussi; Daniela De Rocco; Pamela Magini; Elisa Civaschi; Ginevra Biino; Marco Seri; Anna Savoia; Carlo L Balduini
Journal:  Blood       Date:  2013-09-12       Impact factor: 22.113

10.  Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.

Authors:  Patrizia Noris; Alessandro Pecci; Filomena Di Bari; Maria Teresa Di Stazio; Michele Di Pumpo; Iride F Ceresa; Nicoletta Arezzi; Chiara Ambaglio; Anna Savoia; Carlo L Balduini
Journal:  Haematologica       Date:  2004-10       Impact factor: 9.941
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Authors:  Paquita Nurden; Alan T Nurden
Journal:  Haematologica       Date:  2019-06       Impact factor: 9.941

2.  A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

Authors:  Fabio Busonero; Maristella Steri; Valeria Orrù; Gabriella Sole; Stefania Olla; Michele Marongiu; Andrea Maschio; Carlo Sidore; Sandra Lai; Antonella Mulas; Magdalena Zoledziewska; Matteo Floris; Mauro Pala; Paola Forabosco; Isadora Asunis; Maristella Pitzalis; Francesca Deidda; Marco Masala; Cristian Antonio Caria; Susanna Barella; Goncalo R Abecasis; David Schlessinger; Serena Sanna; Edoardo Fiorillo; Francesco Cucca
Journal:  Br J Haematol       Date:  2020-11-20       Impact factor: 8.615
  2 in total

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