|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.
|
27255190 |
2016 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Functional outcomes in Rett syndrome.
|
26175308 |
2016 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
|
24399845 |
2014 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Pubertal trajectory in females with Rett syndrome: a population-based study.
|
23270700 |
2013 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
|
23810759 |
2013 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
MeCP2 deficiency is associated with impaired microtubule stability.
|
23238081 |
2013 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.
|
23452848 |
2013 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.
|
21764336 |
2011 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
R270X is one of the most frequent recurrent MECP2 mutations among RTT cohorts.
|
20625242 |
2010 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X).
|
17914728 |
2007 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome.
|
16077729 |
2005 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X.
|
11896459 |
2002 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
|
11524741 |
2001 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
|
10767337 |
2000 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
|
rs61750240
|
|
Rett Syndrome
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
|
10814718 |
2000 |