Literature DB >> 20705719

The importance of rare diseases: from the gene to society.

John A Dodge, Tamara Chigladze, Jean Donadieu, Zachi Grossman, Feliciano Ramos, Angelo Serlicorni, Liesbeth Siderius, Constantinos J Stefanidis, Velibor Tasic, Arunas Valiulis, Jola Wierzba.   

Abstract

Mesh：

Year:  2010        PMID： 20705719     DOI： 10.1136/adc.2010.193664

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  20 in total

Review 1.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

Review 2.  Role of bacteria in leukocyte adhesion deficiency-associated periodontitis.

Authors:  George Hajishengallis; Niki M Moutsopoulos
Journal:  Microb Pathog       Date:  2015-09-14       Impact factor: 3.738

3.  FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Authors:  Chandree L Beaulieu; Jacek Majewski; Jeremy Schwartzentruber; Mark E Samuels; Bridget A Fernandez; Francois P Bernier; Michael Brudno; Bartha Knoppers; Janet Marcadier; David Dyment; Shelin Adam; Dennis E Bulman; Steve J M Jones; Denise Avard; Minh Thu Nguyen; Francois Rousseau; Christian Marshall; Richard F Wintle; Yaoqing Shen; Stephen W Scherer; Jan M Friedman; Jacques L Michaud; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2014-06-05       Impact factor: 11.025

Review 4.  Neutrophil homeostasis and inflammation: novel paradigms from studying periodontitis.

Authors:  George Hajishengallis; Triantafyllos Chavakis; Evlambia Hajishengallis; John D Lambris
Journal:  J Leukoc Biol       Date:  2014-12-29       Impact factor: 4.962

Review 5.  Immune and regulatory functions of neutrophils in inflammatory bone loss.

Authors:  George Hajishengallis; Niki M Moutsopoulos; Evlambia Hajishengallis; Triantafyllos Chavakis
Journal:  Semin Immunol       Date:  2016-02-28       Impact factor: 11.130

Review 6.  Proceedings of the fourth international conference on central hypoventilation.

Authors:  Ha Trang; Jean-François Brunet; Hermann Rohrer; Jorge Gallego; Jeanne Amiel; Tiziana Bachetti; Kenneth H Fischbeck; Thomas Similowski; Christian Straus; Isabella Ceccherini; Debra E Weese-Mayer; Matthias Frerick; Katarzyna Bieganowska; Linda Middleton; Francesco Morandi; Giancarlo Ottonello
Journal:  Orphanet J Rare Dis       Date:  2014-12-05       Impact factor: 4.123

7.  The supportive care needs of parents with a child with a rare disease: results of an online survey.

Authors:  Lemuel J Pelentsov; Andrea L Fielder; Thomas A Laws; Adrian J Esterman
Journal:  BMC Fam Pract       Date:  2016-07-21       Impact factor: 2.497

Review 8.  Zebrafish, an In Vivo Platform to Screen Drugs and Proteins for Biomedical Use.

Authors:  Hung-Chieh Lee; Cheng-Yung Lin; Huai-Jen Tsai
Journal:  Pharmaceuticals (Basel)       Date:  2021-05-24

Review 9.  Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.

Authors:  Eleanor G Seaby; Heidi L Rehm; Anne O'Donnell-Luria
Journal:  Front Genet       Date:  2021-06-17       Impact factor: 4.599

10.  Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Authors:  Juan Liu; Yu Zheng; Jiaotian Huang; Desheng Zhu; Ping Zang; Zhenqing Luo; Yongjia Yang; Yu Peng; Zhenghui Xiao; Yimin Zhu; Xiulan Lu
Journal:  Hum Mutat       Date:  2021-08-15       Impact factor: 4.700
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