Pages that link to "Q44889062"

The following pages link to RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution (Q44889062):

Displaying 50 items.

• RettBASE (Q24283710) (← links)
• Rett syndrome: clinical review and genetic update (Q24674633) (← links)
• Modifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in Disease (Q26742136) (← links)
• MECP2 disorders: from the clinic to mice and back (Q26799760) (← links)
• The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome (Q26800087) (← links)
• Rett syndrome: disruption of epigenetic control of postnatal neurological functions (Q28088283) (← links)
• Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Q28188406) (← links)
• Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor (Q28511624) (← links)
• Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations (Q28743688) (← links)
• Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). (Q30360539) (← links)
• InterRett, a model for international data collection in a rare genetic disorder (Q30717719) (← links)
• Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype (Q30823060) (← links)
• Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders (Q33594773) (← links)
• Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome (Q33765360) (← links)
• X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome (Q33911020) (← links)
• Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice (Q33915332) (← links)
• Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. (Q34665890) (← links)
• Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults. (Q34998124) (← links)
• Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome (Q35180703) (← links)
• Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study (Q35492515) (← links)
• MECP2 and beyond: phenotype-genotype correlations in Rett syndrome (Q35597795) (← links)
• Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2. (Q35606203) (← links)
• F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome. (Q35768582) (← links)
• Connections between epigenetic gene silencing and human disease (Q35843804) (← links)
• Characterisation of CDKL5 Transcript Isoforms in Human and Mouse (Q36055559) (← links)
• Experience of gastrostomy using a quality care framework: the example of rett syndrome (Q36154185) (← links)
• The phenotype associated with a large deletion on MECP2. (Q36170434) (← links)
• Does genotype predict phenotype in Rett syndrome? (Q36286566) (← links)
• Functional outcomes in Rett syndrome (Q36414822) (← links)
• Rett syndrome: new clinical and molecular insights. (Q36545755) (← links)
• The molecular pathology of Rett syndrome: synopsis and update (Q36617701) (← links)
• The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. (Q36922496) (← links)
• Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations (Q37115396) (← links)
• Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus (Q37223275) (← links)
• Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism (Q37352229) (← links)
• From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. (Q37484131) (← links)
• Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts (Q37612571) (← links)
• Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons (Q37629987) (← links)
• The role of oxidative stress in Rett syndrome: an overview. (Q38023570) (← links)
• Perspectives on hand function in girls and women with Rett syndrome. (Q38122742) (← links)
• Rett syndrome and MeCP2. (Q38194967) (← links)
• A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype (Q38359244) (← links)
• Rett syndrome: a complex disorder with simple roots (Q38366899) (← links)
• Clinical and biological progress over 50 years in Rett syndrome. (Q38375116) (← links)
• InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. (Q38425219) (← links)
• Development of the Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database and the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire (Q38715062) (← links)
• A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations (Q39132989) (← links)
• The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (Q41986666) (← links)
• Rett networked database: an integrated clinical and genetic network of Rett syndrome databases (Q43509278) (← links)
• Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. (Q44523764) (← links)