Literature DB >> 12746406

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

H Leonard, L Colvin, J Christodoulou, T Schiavello, S Williamson, M Davis, D Ravine, S Fyfe, N de Klerk, T Matsuishi, I Kondo, A Clarke, S Hackwell, Y Yamashita.   

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Year:  2003        PMID： 12746406      PMCID： PMC1735457          DOI： 10.1136/jmg.40.5.e52

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  25 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

3.  Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Authors:  Hayley Archer; Julie Evans; Helen Leonard; Lyn Colvin; David Ravine; John Christodoulou; Sarah Williamson; Tony Charman; Mark E S Bailey; Julian Sampson; Nicholas de Klerk; Angus Clarke
Journal:  J Med Genet       Date:  2006-08-11       Impact factor: 6.318

4.  Development of a video-based evaluation tool in Rett syndrome.

Authors:  S Fyfe; J Downs; O McIlroy; B Burford; J Lister; S Reilly; C L Laurvick; C Philippe; M Msall; W E Kaufmann; C Ellaway; H Leonard
Journal:  J Autism Dev Disord       Date:  2006-12-16

5.  Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin.

Authors:  Tatiana Nikitina; Xi Shi; Rajarshi P Ghosh; Rachel A Horowitz-Scherer; Jeffrey C Hansen; Christopher L Woodcock
Journal:  Mol Cell Biol       Date:  2006-11-13       Impact factor: 4.272

6.  How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

Authors:  Jenny Downs; David Forbes; Michael Johnson; Helen Leonard
Journal:  J Paediatr Child Health       Date:  2016-05-31       Impact factor: 1.954

7.  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

8.  Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

Authors:  Stephanie Fehr; Jenny Downs; Ami Bebbington; Helen Leonard
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

9.  MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Authors:  Daniela Zahorakova; Petra Lelkova; Vladimir Gregor; Martin Magner; Jiri Zeman; Pavel Martasek
Journal:  J Hum Genet       Date:  2016-03-17       Impact factor: 3.172

10.  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
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