Literature DB >> 11376997

Guidelines for reporting clinical features in cases with MECP2 mutations.

A M Kerr1, Y Nomura, D Armstrong, M Anvret, P V Belichenko, S Budden, H Cass, J Christodoulou, A Clarke, C Ellaway, M d'Esposito, U Francke, M Hulten, P Julu, H Leonard, S Naidu, C Schanen, T Webb, I W Engerstrom, Y Yamashita, M Segawa.   

Abstract

An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.

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Year:  2001        PMID： 11376997     DOI： 10.1016/s0387-7604(01)00193-0

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  36 in total

1.  Describing the phenotype in Rett syndrome using a population database.

Authors:  L Colvin; S Fyfe; S Leonard; T Schiavello; C Ellaway; N De Klerk; J Christodoulou; M Msall; H Leonard
Journal:  Arch Dis Child       Date:  2003-01       Impact factor: 3.791

Review 2.  Rett syndrome: clinical review and genetic update.

Authors:  L S Weaving; C J Ellaway; J Gécz; J Christodoulou
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

3.  Level of purposeful hand function as a marker of clinical severity in Rett syndrome.

Authors:  Jenny Downs; Ami Bebbington; Peter Jacoby; Anne-Marie Williams; Soumya Ghosh; Walter E Kaufmann; Helen Leonard
Journal:  Dev Med Child Neurol       Date:  2010-03-19       Impact factor: 5.449

4.  Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

Authors:  Nicky S J Halbach; Eric E J Smeets; Jörgen Bierau; Irene M L W Keularts; Guy Plasqui; Peter O O Julu; Ingegerd Witt Engerström; Jaap A Bakker; Leopold M G Curfs
Journal:  JIMD Rep       Date:  2011-09-28

5.  Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic review

Authors:  Jatinder Singh; Evamaria Lanzarini; Paramala Santosh
Journal:  J Psychiatry Neurosci       Date:  2020-05-01       Impact factor: 6.186

6.  The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population.

Authors:  Deidra Young; Ami Bebbington; Nick de Klerk; Carol Bower; Lakshmi Nagarajan; Helen Leonard
Journal:  Res Autism Spectr Disord       Date:  2011-01

7.  Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Authors:  H L Archer; S D Whatley; J C Evans; D Ravine; P Huppke; A Kerr; D Bunyan; B Kerr; E Sweeney; S J Davies; W Reardon; J Horn; K D MacDermot; R A Smith; A Magee; A Donaldson; Y Crow; G Hermon; Z Miedzybrodzka; D N Cooper; L Lazarou; R Butler; J Sampson; D T Pilz; F Laccone; A J Clarke
Journal:  J Med Genet       Date:  2005-09-23       Impact factor: 6.318

Review 8.  The molecular pathology of Rett syndrome: synopsis and update.

Authors:  Schahram Akbarian; Yan Jiang; Genevieve Laforet
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

9.  Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Authors:  Vishnu Anand Cuddapah; Rajesh B Pillai; Kiran V Shekar; Jane B Lane; Kathleen J Motil; Steven A Skinner; Daniel Charles Tarquinio; Daniel G Glaze; Gerald McGwin; Walter E Kaufmann; Alan K Percy; Jeffrey L Neul; Michelle L Olsen
Journal:  J Med Genet       Date:  2014-01-07       Impact factor: 6.318

10.  A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.

Authors:  Rémy Choquet; Meriem Maaroufi; Albane de Carrara; Claude Messiaen; Emmanuel Luigi; Paul Landais
Journal:  J Am Med Inform Assoc       Date:  2014-07-18       Impact factor: 4.497
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