Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

[1]  D. Nelson,et al.  Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. , 2007, Experimental cell research.

[2]  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.

[3]  M. Cam,et al.  Long CGG‐repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles , 2005, FEBS letters.

[4]  É. Khandjian,et al.  Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome , 2004, Journal of Medical Genetics.

[5]  Peng Jin,et al.  RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila , 2003, Neuron.

[6]  M. Patton,et al.  Clinical features of boys with fragile X premutations and intermediate alleles , 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[7]  Mariette Schrier,et al.  The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. , 2003, Human molecular genetics.

[8]  P. Hagerman,et al.  Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. , 2002, RNA.

[9]  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.

[10]  L. Hennighausen,et al.  Spatial and temporal expression of the Cre gene under the control of the MMTV-LTR in different lines of transgenic mice , 2001, Transgenic Research.

[11]  J. Darnell,et al.  Microarray Identification of FMRP-Associated Brain mRNAs and Altered mRNA Translational Profiles in Fragile X Syndrome , 2001, Cell.

[12]  B. Oostra,et al.  Instability of a (CGG)98 repeat in the Fmr1 promoter. , 2001, Human molecular genetics.

[13]  S. Warren,et al.  Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. , 2001, Human molecular genetics.

[14]  W. Doerfler,et al.  Epigenetic and Genotype-specific Effects on the Stability ofde Novo Imposed Methylation Patterns in Transgenic Mice* , 2000, The Journal of Biological Chemistry.

[15]  D. Loesch,et al.  Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. , 2000, American journal of medical genetics.

[16]  S. Sherman,et al.  Premature ovarian failure in the fragile X syndrome. , 2000, American journal of medical genetics.

[17]  T. Petes,et al.  Triplet repeats form secondary structures that escape DNA repair in yeast. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[18]  K. Usdin,et al.  Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation. , 1999, Analytical biochemistry.

[19]  R. Nussbaum,et al.  Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. , 1998, Genomics.

[20]  P. Leder,et al.  Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth , 1996, Cell.

[21]  S. Warren,et al.  Translational suppression by trinucleotide repeat expansion at FMR1 , 1995, Science.

[22]  K. Davies,et al.  Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. , 1994, American journal of human genetics.

[23]  Guy Nagels,et al.  Fmr1 knockout mice: A model to study fragile X mental retardation , 1994, Cell.

[24]  M. Smith,et al.  Detecting steroidal effects on immediate early gene expression in the hypothalamus , 1992 .

[25]  J. Sutcliffe,et al.  Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox , 1991, Cell.

[26]  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.

[27]  D. Schlessinger,et al.  Fragile X genotype characterized by an unstable region of DNA , 1991, Science.

[28]  J Grigsby,et al.  Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). , 2006, Brain : a journal of neurology.

[29]  T. Godfrey,et al.  Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. , 2000, American journal of human genetics.