Literature DB >> 33731121

Genetics of chronic nonbacterial osteomyelitis in the irish population: no significant association with rare FBLIM1 variants.

Daire O'Leary1,2, Orla G Killeen3, Anthony G Wilson4.   

Abstract

Entities:  

Keywords:  Autoinflammation; CNO; CRMO; Chronic nonbacterial osteomyelitis; Chronic recurrent multifocal osteomyelitis; FBLIM1 gene

Year:  2021        PMID： 33731121      PMCID： PMC7972187          DOI： 10.1186/s12969-021-00533-1

Source DB:  PubMed          Journal:  Pediatr Rheumatol Online J        ISSN： 1546-0096            Impact factor:   3.054


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  7 in total

1.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

Review 2.  Chronic recurrent multifocal osteomyelitis.

Authors:  Marion R Roderick; Athimalaipet V Ramanan
Journal:  Adv Exp Med Biol       Date:  2013       Impact factor: 2.622

3.  The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.

Authors:  Hermann Girschick; Martina Finetti; Francesca Orlando; Susanne Schalm; Antonella Insalaco; Gerd Ganser; Susan Nielsen; Troels Herlin; Isabelle Koné-Paut; Silvana Martino; Marco Cattalini; Jordi Anton; Sulaiman Mohammed Al-Mayouf; Michael Hofer; Pierre Quartier; Christina Boros; Jasmin Kuemmerle-Deschner; Denise Pires Marafon; Maria Alessio; Tobias Schwarz; Nicolino Ruperto; Alberto Martini; Annette Jansson; Marco Gattorno
Journal:  Rheumatology (Oxford)       Date:  2018-07-01       Impact factor: 7.580

4.  Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Authors:  Allison J Cox; Benjamin W Darbro; Ronald M Laxer; Gabriel Velez; Xinyu Bing; Alexis L Finer; Albert Erives; Vinit B Mahajan; Alexander G Bassuk; Polly J Ferguson
Journal:  PLoS One       Date:  2017-03-16       Impact factor: 3.240

5.  Fast and accurate long-read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2010-01-15       Impact factor: 6.937

6.  High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).

Authors:  Adamo Pio d'Adamo; Anna Monica Bianco; Giovanna Ferrara; Martina La Bianca; Antonella Insalaco; Alberto Tommasini; Manuela Pardeo; Marco Cattalini; Francesco La Torre; Martina Finetti; Clotilde Alizzi; Gabriele Simonini; Virginia Messia; Serena Pastore; Rolando Cimaz; Marco Gattorno; Andrea Taddio
Journal:  Pediatr Rheumatol Online J       Date:  2020-07-10       Impact factor: 3.054

7.  Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.

Authors:  Gunter Assmann; Michaela Köhm; Volker Schuster; Frank Behrens; Rotraut Mössner; Nina Magnolo; Vinzenz Oji; Harald Burkhardt; Ulrike Hüffmeier
Journal:  BMC Med Genet       Date:  2020-05-12       Impact factor: 2.103
  7 in total

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