MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
about
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesRett syndrome and MeCP2: linking epigenetics and neuronal functionRett syndrome: clinical review and genetic updateThe imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutationsMECP2 disorders: from the clinic to mice and backRole of nucleosome remodeling in neurodevelopmental and intellectual disability disordersTargeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromesRett Syndrome: Reaching for Clinical TrialsAutism: the quest for the genesPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseEx vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutationsManipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disordersBeyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue MiceComparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.Development of genome-wide insertion and deletion markers for maize, based on next-generation sequencing dataDissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes.The role of MeCP2 in brain development and neurodevelopmental disordersFamilial cases and male cases with MECP2 mutationsPaternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.De novo deletion in MECP2 in a monozygotic twin pair: a case reportParental origin of mutations in sporadic cases of Treacher Collins syndrome.Annotation: Rett syndrome: recent progress and implications for research and clinical practice.Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.Experimental models of Rett syndrome based on Mecp2 dysfunction.Genetic basis of Rett syndrome.Age-dependent expression of MeCP2 in a heterozygous mosaic mouse model.Autism-lessons from the X chromosome.Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.Rett syndrome: the complex nature of a monogenic disease.Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridizationRett syndrome: genes, synapses, circuits, and therapeuticsGenome analyses substantiate male mutation bias in many speciesMolecular diagnosis of Rett syndrome.Does genotype predict phenotype in Rett syndrome?Rett syndrome: new clinical and molecular insights.MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.
P2860
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P2860
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@ast
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en-gb
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@nl
type
label
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@ast
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en-gb
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@nl
prefLabel
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@ast
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en-gb
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@nl
P2093
P2860
P3181
P356
P1476
MECP2 mutations in sporadic ca ...... exclusively of paternal origin
@en
P2093
P2860
P304
P3181
P356
10.1086/320109
P407
P50
P577
2001-05-01T00:00:00Z