|
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 |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].
|
11402105 |
2001 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome: North American database.
|
18174548 |
2007 |
|
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 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
|
rs28934906
|
|
A |
0.900 |
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 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
|
10944854 |
2000 |
|
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 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
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 |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
|
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 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
|
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 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
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 |