Literature DB >> 18389888

[Orphanet: a European database for rare diseases].

S S Weinreich1, R Mangon, J J Sikkens, M E en Teeuw, M C Cornel.   

Abstract

Orphanet is a European initiative that aims to improve the management and treatment of rare diseases. It comprises a database dedicated to information on rare diseases and orphan drugs, and offers services adapted to the needs of patients and their families, health professionals, and researchers. The database can be accessed through the website (www.orpha.net) and has some interesting options for searching, for example research projects, support groups or searching by clinical signs. Health professionals are encouraged to add activities concerning rare diseases to the database.

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Mesh:

Year:  2008        PMID: 18389888

Source DB:  PubMed          Journal:  Ned Tijdschr Geneeskd        ISSN: 0028-2162


  39 in total

Review 1.  New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.

Authors:  Paul N Schofield; John P Sundberg; Robert Hoehndorf; Georgios V Gkoutos
Journal:  Brief Funct Genomics       Date:  2011-09       Impact factor: 4.241

2.  A network-based machine-learning framework to identify both functional modules and disease genes.

Authors:  Kuo Yang; Kezhi Lu; Yang Wu; Jian Yu; Baoyan Liu; Yi Zhao; Jianxin Chen; Xuezhong Zhou
Journal:  Hum Genet       Date:  2021-01-07       Impact factor: 4.132

3.  Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Authors:  Chao Wu; Batsal Devkota; Perry Evans; Xiaonan Zhao; Samuel W Baker; Rojeen Niazi; Kajia Cao; Michael A Gonzalez; Pushkala Jayaraman; Laura K Conlin; Bryan L Krock; Matthew A Deardorff; Nancy B Spinner; Ian D Krantz; Avni B Santani; Ahmad N Abou Tayoun; Mahdi Sarmady
Journal:  Eur J Hum Genet       Date:  2019-01-09       Impact factor: 4.246

Review 4.  Mouse genetic and phenotypic resources for human genetics.

Authors:  Paul N Schofield; Robert Hoehndorf; Georgios V Gkoutos
Journal:  Hum Mutat       Date:  2012-05       Impact factor: 4.878

Review 5.  Computational tools for comparative phenomics: the role and promise of ontologies.

Authors:  Georgios V Gkoutos; Paul N Schofield; Robert Hoehndorf
Journal:  Mamm Genome       Date:  2012-07-20       Impact factor: 2.957

6.  Analysis of disease organ as a novel phenotype towards disease genetics understanding.

Authors:  Lingyun Luo; Chunlei Zheng; Jiaolong Wang; Minsheng Tan; Yanshu Li; Rong Xu
Journal:  J Biomed Inform       Date:  2019-06-15       Impact factor: 6.317

7.  A non-negative matrix factorization based method for predicting disease-associated miRNAs in miRNA-disease bilayer network.

Authors:  Yingli Zhong; Ping Xuan; Xiao Wang; Tiangang Zhang; Jianzhong Li; Yong Liu; Weixiong Zhang
Journal:  Bioinformatics       Date:  2018-01-15       Impact factor: 6.937

8.  An integrative, translational approach to understanding rare and orphan genetically based diseases.

Authors:  Robert Hoehndorf; Paul N Schofield; Georgios V Gkoutos
Journal:  Interface Focus       Date:  2013-04-06       Impact factor: 3.906

9.  Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Authors:  Y Shinar; L Obici; I Aksentijevich; B Bennetts; F Austrup; I Ceccherini; J M Costa; A De Leener; M Gattorno; U Kania; I Kone-Paut; S Lezer; A Livneh; I Moix; R Nishikomori; S Ozen; L Phylactou; L Risom; D Rowczenio; T Sarkisian; M E van Gijn; M Witsch-Baumgartner; M Morris; H M Hoffman; I Touitou
Journal:  Ann Rheum Dis       Date:  2012-06-01       Impact factor: 19.103

10.  PhenCards: a data resource linking human phenotype information to biomedical knowledge.

Authors:  James M Havrilla; Cong Liu; Xiangchen Dong; Chunhua Weng; Kai Wang
Journal:  Genome Med       Date:  2021-05-25       Impact factor: 11.117

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