Literature DB >> 14729826

Refining the phenotype of common mutations in Rett syndrome.

L Colvin, H Leonard, N de Klerk, M Davis, L Weaving, S Williamson, J Christodoulou.   

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Year:  2004        PMID： 14729826      PMCID： PMC1757244          DOI： 10.1136/jmg.2003.011130

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


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  28 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

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.  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

4.  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

5.  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

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.  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

8.  Bone mineral content and density in Rett syndrome and their contributing factors.

Authors:  Amanda L Jefferson; Helen J Woodhead; Sue Fyfe; Julie Briody; Ami Bebbington; Boyd J Strauss; Peter Jacoby; Helen Leonard
Journal:  Pediatr Res       Date:  2011-04       Impact factor: 3.756

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.  Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study.

Authors:  J C Carter; D C Lanham; D Pham; G Bibat; S Naidu; W E Kaufmann
Journal:  AJNR Am J Neuroradiol       Date:  2007-12-07       Impact factor: 3.825
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