| scholarly article | Q13442814 |
| P2093 | author name string | Hong Pan | |
| Xi-Ru Wu | |||
| Xin-Hua Bao | |||
| Mei-Rong Li | |||
| Yu-Zhi Zhang | |||
| P2860 | cites work | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update | Q82532344 |
| 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 | ||
| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
| Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 | Q28188406 | ||
| The major form of MeCP2 has a novel N-terminus generated by alternative splicing | Q28511496 | ||
| Functional consequences of Rett syndrome mutations on human MeCP2. | Q33826022 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| Rett syndrome: a surprising result of mutation in MECP2. | Q34045865 | ||
| 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 | ||
| Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | Q34206865 | ||
| A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome | Q34307505 | ||
| Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases | Q35445817 | ||
| Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome | Q35447613 | ||
| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 | ||
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
| Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. | Q36993814 | ||
| Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome | Q41924460 | ||
| Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients | Q43168346 | ||
| Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls | Q45059315 | ||
| Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients | Q48000965 | ||
| Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls | Q48490930 | ||
| Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene | Q48573765 | ||
| MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region | Q48692954 | ||
| Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms | Q49012662 | ||
| Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. | Q50542499 | ||
| Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. | Q51028484 | ||
| Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
| MECP2 gene mutation analysis in Chinese patients with Rett syndrome. | Q53882784 | ||
| Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | Q54493491 | ||
| Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome | Q57215472 | ||
| Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome | Q73692260 | ||
| Rett syndrome in adolescent and adult females: clinical and molecular genetic findings | Q73924688 | ||
| The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA | Q77828158 | ||
| An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 | Q78369107 | ||
| Rett syndrome in females with CTS hot spot deletions: a disorder profile | Q81094258 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Rett syndrome | Q917357 |
| P304 | page(s) | 38-47 | |
| P577 | publication date | 2007-01-01 | |
| P1433 | published in | Journal of Human Genetics | Q6295302 |
| P1476 | title | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome | |
| P478 | volume | 52 |
| Q49032666 | CDKL5 alterations lead to early epileptic encephalopathy in both genders |
| Q28260149 | Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature |
| Q38040446 | Complex single gene disorders and epilepsy. |
| Q95841115 | Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia |
| Q92344634 | Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy |
| Q37223574 | Feeding and swallowing dysfunction in genetic syndromes |
| Q58580302 | Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort |
| Q36131883 | Induced pluripotent stem cells to model and treat neurogenetic disorders |
| 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. |
| Q39001885 | Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients |
| Q28236247 | Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes |
| Q59047735 | Rett Syndrome: Coming to Terms with Treatment |
| Q36484372 | The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. |
| Q37294982 | The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability |
| Q90173981 | Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome |
| Q38921134 | Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan |
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