Refining the phenotype of common mutations in Rett syndrome.
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The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome: clinical review and genetic updateIn Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric DisordersPeople with MECP2 mutation-positive Rett disorder who converse.InterRett, a model for international data collection in a rare genetic disorderAutonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.Bone mineral content and density in Rett syndrome and their contributing factors.Quantification of functional abilities in Rett syndrome: a comparison between stages III and IVRespiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.Gross motor profile in rett syndrome as determined by video analysis.The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationSeizures in Rett syndrome: an overview from a one-year calendar studyMethyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeSelective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging studyKaryopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2Does genotype predict phenotype in Rett syndrome?Sleep problems in Rett syndrome.The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.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.Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.Updating the profile of C-terminal MECP2 deletions in Rett syndromePeople with intellectual disability: what do we know about adulthood and life expectancy?Health service use in Rett syndrome.Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.Parental perspectives on the communication abilities of their daughters with Rett syndrome.InterRett--The application of bioinformatics to International Rett syndrome research.Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.Genotype-phenotype correlation in Brazillian Rett syndrome patients.A mutation-led search for novel functional domains in MeCP2.Transcriptome level analysis in Rett syndrome using human samples from different tissues.p.R270X MECP2 mutation and mortality in Rett syndromeDimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome
P2860
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P2860
Refining the phenotype of common mutations in Rett syndrome.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Refining the phenotype of common mutations in Rett syndrome.
@en
Refining the phenotype of common mutations in Rett syndrome.
@nl
type
label
Refining the phenotype of common mutations in Rett syndrome.
@en
Refining the phenotype of common mutations in Rett syndrome.
@nl
prefLabel
Refining the phenotype of common mutations in Rett syndrome.
@en
Refining the phenotype of common mutations in Rett syndrome.
@nl
P2093
P356
P1476
Refining the phenotype of common mutations in Rett syndrome
@en
P2093
J Christodoulou
S Williamson
P356
10.1136/JMG.2003.011130
P407
P577
2004-01-01T00:00:00Z