Literature DB >> 19594744

Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene.

Marina Lanciotti, Gianluca Caridi, Camillo Rosano, Simona Pigullo, Tiziana Lanza, Carlo Dufour.   

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Year:  2009        PMID： 19594744     DOI： 10.1111/j.1365-2141.2009.07787.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  4 in total

1.  Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.

Authors:  Marina Lanciotti; Stefania Indaco; Sonia Bonanomi; Tiziana Coliva; Elena Mastrodicasa; Gianluca Caridi; Michaela Calvillo; Carlo Dufour
Journal:  Haematologica       Date:  2010-01       Impact factor: 9.941

Review 2.  ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Authors:  Marshall S Horwitz; Seth J Corey; H Leighton Grimes; Timothy Tidwell
Journal:  Hematol Oncol Clin North Am       Date:  2012-11-07       Impact factor: 3.722

Review 3.  Neutrophil Elastase Defects in Congenital Neutropenia.

Authors:  Zuzanna Rydzynska; Bartlomiej Pawlik; Damian Krzyzanowski; Wojciech Mlynarski; Joanna Madzio
Journal:  Front Immunol       Date:  2021-04-22       Impact factor: 7.561

Review 4.  Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.

Authors:  Valentino Bezzerri; Martina Api; Marisole Allegri; Benedetta Fabrizzi; Seth J Corey; Marco Cipolli
Journal:  Int J Mol Sci       Date:  2020-06-30       Impact factor: 5.923
  4 in total

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