Does genotype predict phenotype in Rett syndrome? - Wikidata - awgldk - TriplyDB

Does genotype predict phenotype in Rett syndrome?

Does genotype predict phenotype in Rett syndrome?

http://www.wikidata.org/entity/Q36286566

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Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model Gross motor profile in rett syndrome as determined by video analysis.The genetic basis of non-syndromic intellectual disability: a review Genetic testing in autism: how much is enough?Sleep problems in Rett syndrome.Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.Patients with Rett syndrome sustain low-energy fractures.Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.The diagnosis of autism in a female: could it be Rett syndrome?APOE epsilon4: a potential modulation factor in Rett syndrome.A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.

P2860

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P2860

Does genotype predict phenotype in Rett syndrome?

http://www.wikidata.org/entity/Q36286566

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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2005年學術文章

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name

Does genotype predict phenotype in Rett syndrome?

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Does genotype predict phenotype in Rett syndrome?

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Does genotype predict phenotype in Rett syndrome?

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Does genotype predict phenotype in Rett syndrome?

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Does genotype predict phenotype in Rett syndrome?

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Does genotype predict phenotype in Rett syndrome?

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Journal of Child Neurology

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Does genotype predict phenotype in Rett syndrome?

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Andrea L Ham

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Asmita Kumar

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N Carolyn Schanen

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Rose Deeter

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P2860

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

Angelman syndrome: a review of the clinical and genetic aspects

Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

Identification of MeCP2 mutations in a series of females with autistic disorder

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

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768-778

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