Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
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D. Loesch | J. Hopper | C. Skinner | C. Schwartz | Q. Bui | R. Hagerman | D. Francis | D. Amor | H. Slater | D. Godler | Yoshimi Inaba | E. Shi
[1] W. Liu,et al. Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis. , 2012, Human molecular genetics.
[2] D. Loesch,et al. Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study , 2012, Genetics in Medicine.
[3] K. Kwon,et al. Positive feedback regulation of Akt‐FMRP pathway protects neurons from cell death , 2012, Journal of neurochemistry.
[4] D. Loesch,et al. Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. , 2012, Clinical chemistry.
[5] D. Loesch,et al. FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. , 2011, The Journal of molecular diagnostics : JMD.
[6] S. Fatemi,et al. The role of fragile X mental retardation protein in major mental disorders , 2011, Neuropharmacology.
[7] Robert W. Williams,et al. Female-biased expression of long non-coding RNAs in domains that escape X-inactivation in mouse , 2010, BMC Genomics.
[8] D. Loesch,et al. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. , 2010, Human molecular genetics.
[9] D. Loesch,et al. Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms , 2009, American journal of medical genetics. Part A.
[10] Randi J. Hagerman,et al. Advances in the Treatment of Fragile X Syndrome , 2009, Pediatrics.
[11] M. Epstein,et al. Fragile X‐associated primary ovarian insufficiency: evidence for additional genetic contributions to severity , 2008, Genetic epidemiology.
[12] M. Khaniani,et al. An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1) , 2008, Molecular Cytogenetics.
[13] C. Wahlestedt,et al. A Novel RNA Transcript with Antiapoptotic Function Is Silenced in Fragile X Syndrome , 2008, PloS one.
[14] S. Tapscott,et al. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. , 2007, Human molecular genetics.
[15] M. Tejada,et al. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. , 2007, RNA.
[16] Lexin Li,et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. , 2007, RNA.
[17] D. Loesch,et al. Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation , 2007, Journal of autism and developmental disorders.
[18] L. Beckett,et al. Size bias of fragile X premutation alleles in late-onset movement disorders , 2006, Journal of Medical Genetics.
[19] D. Loesch,et al. Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation , 2006, Journal of developmental and behavioral pediatrics : JDBP.
[20] J. Brunberg,et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. , 2004, JAMA.
[21] M. D. Del Bigio,et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. , 2002, Brain : a journal of neurology.
[22] M. Watson,et al. Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics , 2001, Genetics in medicine : official journal of the American College of Medical Genetics.
[23] B. Bardoni,et al. Increase of FMRP expression, raised levels ofFMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? , 2000, Journal of medical genetics.
[24] W. Greenough,et al. Dendritic spine structural anomalies in fragile-X mental retardation syndrome. , 2000, Cerebral cortex.
[25] P. Hagerman,et al. Transcription of the FMR1 gene in individuals with fragile X syndrome. , 2000, American journal of medical genetics.
[26] I. Weiler,et al. Synaptic synthesis of the Fragile X protein: possible involvement in synapse maturation and elimination. , 1999, American journal of medical genetics.
[27] B. D. de Vries,et al. Mental status of females with an FMR1 gene full mutation. , 1996, American journal of human genetics.
[28] H. Willard,et al. X inactivation of the FMR1 fragile X mental retardation gene. , 1995, Journal of medical genetics.
[29] C. Mathew,et al. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. , 1994, American journal of human genetics.
[30] K. A. Lang,et al. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. , 1994, JAMA.
[31] G. Suthers. Fragile X Syndrome—Diagnosis, Treatment, and Research , 1992 .
[32] J. Mandel,et al. 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. , 1991, Journal of medical genetics.
[33] Ben A. Oostra,et al. Absence of expression of the FMR-1 gene in fragile X syndrome , 1991, Cell.
[34] J. Sutcliffe,et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.
[35] C. Laird. Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation. , 1987, Genetics.
[36] P. Hagerman,et al. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. , 2008, The Journal of molecular diagnostics : JMD.
[37] D. Munoz. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. , 2002, Neurology.
[38] Silverman,et al. Fragile X Syndrome Diagnosis Treatment And Research , 2016 .