Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
about
Mood disorders in mothers of children on the autism spectrum are associated with higher functioning autismThe common BDNF polymorphism may be a modifier of disease severity in Rett syndromeLoss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalitiesManagement of epilepsy in patients with Rett syndrome: perspectives and considerations5-Hydroxymethylcytosine: A new player in brain disorders?BDNF deregulation in Rett syndromeRett Syndrome: Reaching for Clinical TrialsThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyClinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceProfiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndromeDevelopmental delay in Rett syndrome: data from the natural history study.InterRett, a model for international data collection in a rare genetic disorderAutonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.Variable phenotypic expression of a MECP2 mutation in a family.Twenty years of surveillance in Rett syndrome: what does this tell us?Familial cases and male cases with MECP2 mutationsRespiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnosticsLevel of purposeful hand function as a marker of clinical severity in Rett syndromeThe relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationThe genetic basis of non-syndromic intellectual disability: a reviewRett syndrome diagnostic criteria: lessons from the Natural History StudyRevealing the complexity of a monogenic disease: rett syndrome exome sequencingPubertal development in Rett syndrome deviates from typical femalesExperimental models of Rett syndrome based on Mecp2 dysfunction.There is variability in the attainment of developmental milestones in the CDKL5 disorder.The trajectories of sleep disturbances in Rett syndrome.Trends in the diagnosis of Rett syndrome in Australia.Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeMECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in MalignancyLinking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.Validating the Rett Syndrome Gross Motor Scale.Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales.Experience of gastrostomy using a quality care framework: the example of rett syndromeParent report of community psychiatric comorbid diagnoses in autism spectrum disorders.The phenotype associated with a large deletion on MECP2.Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with Rett syndrome.Functional outcomes in Rett syndrome.
P2860
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P2860
Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Investigating genotype-phenoty ...... ing an international data set.
@ast
Investigating genotype-phenoty ...... ing an international data set.
@en
type
label
Investigating genotype-phenoty ...... ing an international data set.
@ast
Investigating genotype-phenoty ...... ing an international data set.
@en
prefLabel
Investigating genotype-phenoty ...... ing an international data set.
@ast
Investigating genotype-phenoty ...... ing an international data set.
@en
P2093
P50
P1433
P1476
Investigating genotype-phenoty ...... sing an international data set
@en
P2093
A Anderson
A Bebbington
B Ben-Zeev
N Yatawara
W E Kaufmann
P304
P356
10.1212/01.WNL.0000304752.50773.EC
P407
P577
2008-03-01T00:00:00Z