scholarly article | Q13442814 |
P356 | DOI | 10.1007/S10038-007-0121-X |
P698 | PubMed publication ID | 17387578 |
P50 | author | Jiri Zeman | Q37377847 |
Pavel Martásek | Q42546185 | ||
Alice Baxová | Q56547582 | ||
Daniela Záhoraková | Q58881131 | ||
P2093 | author name string | Alena Zumrova | |
Vladimir Bzduch | |||
Nadezda Misovicova | |||
Jan Hadac | |||
Robert Rosipal | |||
P2860 | cites work | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | Q24303656 | ||
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex | Q24324026 | ||
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription | Q29547568 | ||
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
Methyl-CpG-binding protein 2 mutations in Rett syndrome | Q33927087 | ||
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases | Q34056069 | ||
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. | Q34098728 | ||
Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations | Q34141668 | ||
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms | Q34144292 | ||
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots | Q34146268 | ||
On a unusual brain atrophy syndrome in hyperammonemia in childhood | Q34230621 | ||
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome | Q34307505 | ||
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. | Q34415995 | ||
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype | Q34733527 | ||
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome | Q35447613 | ||
Rett syndrome: natural history and underlying disease mechanisms | Q41695389 | ||
Preserved speech variant is allelic of classic Rett syndrome | Q41924637 | ||
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls | Q45059315 | ||
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism | Q47306741 | ||
MECP2 is highly mutated in X-linked mental retardation | Q48369835 | ||
Rett syndrome: clinical manifestations in males with MECP2 mutations | Q48650852 | ||
Guidelines for reporting clinical features in cases with MECP2 mutations | Q48867822 | ||
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. | Q51028484 | ||
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | Q52168328 | ||
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | Q54493491 | ||
Clinical delineation of Rett syndrome variants | Q71760089 | ||
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients | Q73530772 | ||
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions | Q73593608 | ||
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA | Q73893290 | ||
MeCP2 mutations in children with and without the phenotype of Rett syndrome | Q74009717 | ||
MECP2 mutation screening in Swedish classical Rett syndrome females | Q74254024 | ||
Mutation analysis of the MECP2 gene in patients with Rett syndrome | Q78885728 | ||
P433 | issue | 4 | |
P921 | main subject | Rett syndrome | Q917357 |
P304 | page(s) | 342-348 | |
P577 | publication date | 2007-02-15 | |
P1433 | published in | Journal of Human Genetics | Q6295302 |
P1476 | title | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms | |
P478 | volume | 52 |
Q51915752 | APOE epsilon4: a potential modulation factor in Rett syndrome. |
Q52606025 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. |
Q38040446 | Complex single gene disorders and epilepsy. |
Q41248277 | Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation |
Q30717719 | InterRett, a model for international data collection in a rare genetic disorder |
Q50225101 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning |
Q41934849 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. |
Q39001896 | Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation |
Q51850375 | Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. |
Q59047735 | Rett Syndrome: Coming to Terms with Treatment |
Q40137142 | Rett syndrome: North American database |
Q37023198 | Rett syndrome: recent research progress |
Q37294982 | The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability |
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