Literature DB >> 28040788

Gene panel sequencing in idiopathic erythrocytosis.

François Girodon1,2, Fabrice Airaud3, Céline Garrec3, Stéphane Bézieau3, Betty Gardie4,5.   

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Year:  2017        PMID： 28040788      PMCID： PMC5210256          DOI： 10.3324/haematol.2016.158337

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


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  3 in total

1.  Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.

Authors:  Francesco Passamonti; Chiara Elena; Susanne Schnittger; Radek C Skoda; Anthony R Green; François Girodon; Jean-Jacques Kiladjian; Mary Frances McMullin; Marco Ruggeri; Carles Besses; Alessandro M Vannucchi; Eric Lippert; Heinz Gisslinger; Elisa Rumi; Thomas Lehmann; Christina A Ortmann; Daniela Pietra; Cristiana Pascutto; Torsten Haferlach; Mario Cazzola
Journal:  Blood       Date:  2011-01-11       Impact factor: 22.113

2.  Genetic basis of congenital erythrocytosis: mutation update and online databases.

Authors:  Celeste Bento; Melanie J Percy; Betty Gardie; Tabita Magalhães Maia; Richard van Wijk; Silverio Perrotta; Fulvio Della Ragione; Helena Almeida; Cedric Rossi; François Girodon; Maria Aström; Drorit Neumann; Susanne Schnittger; Britta Landin; Milen Minkov; Maria Luigia Randi; Stéphane Richard; Nicole Casadevall; William Vainchenker; Susana Rives; Sylvie Hermouet; M Leticia Ribeiro; Mary Frances McMullin; Holger Cario; Aurelie Chauveau; Anne-Paule Gimenez-Roqueplo; Brigitte Bressac-de-Paillerets; Didem Altindirek; Felipe Lorenzo; Frederic Lambert; Harlev Dan; Sophie Gad-Lapiteau; Ana Catarina Oliveira; Cédric Rossi; Cristina Fraga; Gennadiy Taradin; Guillermo Martin-Nuñez; Helena Vitória; Herrera Diaz Aguado; Jan Palmblad; Julia Vidán; Luis Relvas; Maria Leticia Ribeiro; Maria Luigi Larocca; Maria Luigia Randi; Maria Pedro Silveira; Melanie Percy; Mor Gross; Ricardo Marques da Costa; Soheir Beshara; Tal Ben-Ami; Valérie Ugo
Journal:  Hum Mutat       Date:  2013-10-22       Impact factor: 4.878

3.  Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Authors:  Carme Camps; Nayia Petousi; Celeste Bento; Holger Cario; Richard R Copley; Mary Frances McMullin; Richard van Wijk; Peter J Ratcliffe; Peter A Robbins; Jenny C Taylor
Journal:  Haematologica       Date:  2016-09-20       Impact factor: 9.941
  3 in total
  3 in total

Review 1.  Erythrocytosis: genes and pathways involved in disease development.

Authors:  Jernej Gašperšič; Aleša Kristan; Tanja Kunej; Irena Preložnik Zupan; Nataša Debeljak
Journal:  Blood Transfus       Date:  2020-12-16       Impact factor: 3.443

2.  Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.

Authors:  Aleša Kristan; Tadej Pajič; Aleš Maver; Tadeja Režen; Tanja Kunej; Rok Količ; Andrej Vuga; Martina Fink; Špela Žula; Helena Podgornik; Saša Anžej Doma; Irena Preložnik Zupan; Damjana Rozman; Nataša Debeljak
Journal:  Front Genet       Date:  2021-07-19       Impact factor: 4.599

3.  Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.

Authors:  Mathilde Filser; Betty Gardie; Mathieu Wemeau; Patricia Aguilar-Martinez; Muriel Giansily-Blaizot; François Girodon
Journal:  Genes (Basel)       Date:  2022-01-12       Impact factor: 4.096
  3 in total

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