Literature DB >> 16096221

InterRett--The application of bioinformatics to International Rett syndrome research.

H Moore1, H Leonard, S Fyfe, N De Klerk, N Leonard.   

Abstract

InterRett, International Rett Syndrome Association (IRSA) Rett Phenotype Database, is a unique international project funded by the IRSA, which brings together child neurologists, geneticists, paediatricians, epidemiologists, researchers and families of affected children. The principal aim of InterRett is to increase the clinical understanding of Rett syndrome throughout the world and with the statistical power of large case numbers, determine any correlations between genotype and the phenotypic characteristics. Since establishment of the database in January 2003, InterRett has registered 286 cases from 24 countries, with family questionnaire data submitted on 242 cases and clinician data on 116 cases. Collated de-identified data gathered from families and clinicians have been incorporated into a searchable online database allowing simple and complex interrogation of the clinical phenotype information. InterRett will also serve as a clearing house for data to encourage inter-country collaboration between researchers and negotiations are in place with several countries for data contributions in excess of 1000 cases. The resulting online database will be an invaluable resource for understanding the nature and management of Rett syndrome, as well as providing a model for other rare childhood disorders.

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Mesh:

Year:  2005        PMID: 16096221     DOI: 10.1080/03014460500075068

Source DB:  PubMed          Journal:  Ann Hum Biol        ISSN: 0301-4460            Impact factor:   1.533


  5 in total

1.  Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Authors:  A Saxena; D de Lagarde; H Leonard; S L Williamson; V Vasudevan; J Christodoulou; E Thompson; P MacLeod; D Ravine
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

2.  The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

Authors:  Laila Robertson; Sonĵa E Hall; Peter Jacoby; Carolyn Ellaway; Nick de Klerk; Helen Leonard
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-03-05       Impact factor: 3.568

Review 3.  Recent advances in MeCP2 structure and function.

Authors:  Kristopher C Hite; Valerie H Adams; Jeffrey C Hansen
Journal:  Biochem Cell Biol       Date:  2009-02       Impact factor: 3.626

4.  InterRett, a model for international data collection in a rare genetic disorder.

Authors:  Sandra Louise; Sue Fyfe; Ami Bebbington; Nadia Bahi-Buisson; Alison Anderson; Mercé Pineda; Alan Percy; Bruria Ben Zeev; Xi Ru Wu; Xinhua Bao; Patrick Mac Leod; Judith Armstrong; Helen Leonard
Journal:  Res Autism Spectr Disord       Date:  2009-07

5.  The diagnosis of autism in a female: could it be Rett syndrome?

Authors:  Deidra J Young; Ami Bebbington; Alison Anderson; David Ravine; Carolyn Ellaway; Alpana Kulkarni; Nick de Klerk; Walter E Kaufmann; Helen Leonard
Journal:  Eur J Pediatr       Date:  2007-08-08       Impact factor: 3.183

  5 in total

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