Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Archives of Disease in Childhood: Fetal and Neonatal Edition

• Publication date

  2003-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1136/fn.88.3.F250PMID 12719401PMCID PMC1721560
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.

  2002cited by this paper
• Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

  2002cited by this paper
• Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

  2001cited by this paper
• MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

  2001cited by this paper
• MeCP2 mutations in children with and without the phenotype of Rett syndrome

  2001cited by this paper
• Functional consequences of Rett syndrome mutations on human MeCP2.

  2000cited by this paper
• Two affected boys in a Rett syndrome family

  2000cited by this paper
• Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

  1999cited by this paper
• Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

  1999cited by this paper
• A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

  1998cited by this paper

• MECP2 Variants in Males: More Common than Previously Appreciated.

  2024cites this paper
• Degenerative Disorders of the Newborn

  2018cites this paper
• RNA-sequencing analysis of umbilical cord plasma microRNAs from healthy newborns

  2018cites this paper
• Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

  2017cites this paper
• From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

  2016cites this paper
• A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy

  2016cites this paper
• What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

  2012cites this paper
• What does the nature of the MECP 2 mutation tell us about parental origin and recurrence risk in Rett syndrome ?

  2012cites this paper
• Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.

  2012cites this paper
• Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders

  2011cites this paper
• Pathogenesis of Rett syndrome and study of the role of meCP2 protein in neuronal function.

  2011cites this paper
• Identification and Characterization of Novel Sir3/MeCP2-Chromatin Interactions

  2009cites this paper
• Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients

  2009cites this paper
• Severe congenital encephalopathy caused by MECP 2 null mutations in males : central hypoxia and reduced neuronal dendritic structure

  2008cites this paper
• Neurodevelopmental Phenotype in Male Patients Gene Are Not a Major Cause of Rett Syndrome-Like or RelatedMECP 2 Mutations in the

  2008cites this paper
• Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

  2008cites this paper
• MECP2 mutations in males

  2007cites this paper
• Genes and common diseases: genetics in modern medicine.

  2007cites this paper
• Early progressive encephalopathy in boys and MECP2 mutations

  2006cites this paper
• Male Rett Phenotypes in T158M and R294X MeCP2-mutations

  2006cites this paper
• Mechanisms of Disease: neurogenetics of MeCP2 deficiency

  2006cites this paper
• Does Genotype Predict Phenotype in Rett Syndrome?

  2005cites this paper
• Molecular Diagnosis of Rett Syndrome

  2005cites this paper
• Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

  2005cites this paper
• Genotype and early development in Rett syndrome: the value of international data.

  2005cites this paper