|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Molecular diagnostic dilemmas in Rett syndrome.
|
22277191 |
2012 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
|
20116947 |
2011 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
|
20661168 |
2010 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
|
20631224 |
2010 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length.
|
19217433 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.
|
19573459 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The spectrum of MECP2 mutations within the mainland Chinese RTT patients is similar to that of those patients reported in the world. p.T158M, p.R168X, c.806delG, p.R255X, p.R270X, p.R133C, p.R306C, and p.R106W are the hotspot mutations of MECP2 and c.806delG is a specific hotspot mutation in Chinese patients with RTT.
|
19552836 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course.
|
19133691 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients.
|
19309269 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
18989701 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
|
19442733 |
2009 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
|
18499664 |
2008 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome: North American database.
|
18174548 |
2007 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |