Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
about
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseMutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.De novo deletion in MECP2 in a monozygotic twin pair: a case reportDelineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.Genetic basis of Rett syndrome.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.Clinical variability in Rett syndrome.Does genotype predict phenotype in Rett syndrome?Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy.X Chromosome Inactivation in Opioid Addicted Women.Rett syndrome: new clinical and molecular insights.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.A locus for bilateral perisylvian polymicrogyria maps to Xq28Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.Distinct de novo deletions in a brother-sister pair with RTT: a case report.APOE epsilon4: a potential modulation factor in Rett syndrome.X-chromosome inactivation patterns in females with Prader-Willi syndrome.Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
P2860
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P2860
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
description
2001 nî lūn-bûn
@nan
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
2001年论文
@zh
2001年论文
@zh-cn
name
Segregation of a totally skewe ...... implications for the disease.
@ast
Segregation of a totally skewe ...... implications for the disease.
@en
type
label
Segregation of a totally skewe ...... implications for the disease.
@ast
Segregation of a totally skewe ...... implications for the disease.
@en
prefLabel
Segregation of a totally skewe ...... implications for the disease.
@ast
Segregation of a totally skewe ...... implications for the disease.
@en
P2093
P2860
P356
P1476
Segregation of a totally skewe ...... implications for the disease.
@en
P2093
Chevillard C
Schwartz CE
P2860
P304
P356
10.1136/JMG.38.7.435
P407
P577
2001-07-01T00:00:00Z