Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. - Test2 - elhamkhani - TriplyDB

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

http://www.wikidata.org/entity/Q41133769

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P1343

The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2 Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect FMRP targets distinct mRNA sequence elements to regulate protein expression Human genes containing polymorphic trinucleotide repeats.Isolation of a human DNA sequence which spans the fragile X.Molecular and cellular genetics of fragile X syndrome.Molecular cloning and analysis of the fragile X region in man Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel)Genotype prediction in the fragile X syndrome.Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein Dysregulated nitric oxide signaling as a candidate mechanism of fragile X syndrome and other neuropsychiatric disorders.Fragile X mental retardation protein in plasticity and disease.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Fragile-X syndrome: unique genetics of the heritable unstable element A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Characterization of FMR1 promoter elements by in vivo-footprinting analysis.Two new cases of FMR1 deletion associated with mental impairment.Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.Fragile X syndrome: molecular analysis reveals a new mechanism of mutation in human genetic diseases.Bromodomain inhibitors regulate the C9ORF72 locus in ALS Molecular heterogeneity of the fragile X syndrome.RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.Epigenetics in nucleotide repeat expansion disorders.CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1.Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome.Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.Role of T cell DNA methylation in lupus syndromes.A YAC contig across the fragile X site defines the region of fragility.The fragile X syndrome: implications of molecular genetics for the clinical syndrome.Fragile X syndrome in humans and mice.A point mutation in the FMR-1 gene associated with fragile X mental retardation.

P2860

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P1343

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P2860

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

http://www.wikidata.org/entity/Q41133769

description

1991 nî lūn-bûn

@nan

1991年の論文

@ja

1991年論文

@yue

1991年論文

@zh-hant

1991年論文

@zh-hk

1991年論文

@zh-mo

1991年論文

@zh-tw

1991年论文

@wuu

1991年论文

@zh

1991年论文

@zh-cn

name

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

@en

type

label

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

@en

prefLabel

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

@en

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P1476

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

@en

P2093

Heitz D

http://www.w3.org/2001/XMLSchema#string

Kretz C

http://www.w3.org/2001/XMLSchema#string

Mandel JL

http://www.w3.org/2001/XMLSchema#string

Oberlé I

http://www.w3.org/2001/XMLSchema#string

Vincent A

http://www.w3.org/2001/XMLSchema#string

P2888

P304

624-626

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/349624A0

http://www.w3.org/2001/XMLSchema#string

P407

P433

6310

http://www.w3.org/2001/XMLSchema#string

P478

349

http://www.w3.org/2001/XMLSchema#string

P50

Christine Petit

P577

1991-02-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1021205891

http://www.w3.org/2001/XMLSchema#string

P698

1672039

http://www.w3.org/2001/XMLSchema#string

P921

electrophoresis