| P50 | author | Irene Madrigal | Q56241520 |
| | Montserrat Milà | Q56241521 |
| | Maria Isabel Alvarez-Mora | Q57571412 |
| P2093 | author name string | L Rodriguez-Revenga | |
| P2860 | cites work | A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome | Q21562300 |
| | Genetics evaluation for the etiologic diagnosis of autism spectrum disorders | Q22242734 |
| | A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE. | Q22337041 |
| | Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome | Q26739927 |
| | Fragile X spectrum disorders | Q26824376 |
| | Fragile X-associated tremor/ataxia syndrome | Q26852667 |
| | Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back | Q27337360 |
| | Fragile X syndrome: A review of clinical management | Q28076950 |
| | Advanced technologies for the molecular diagnosis of fragile X syndrome | Q28087781 |
| | Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 |
| | Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization | Q28396707 |
| | FMR1 transcript isoforms: association with polyribosomes; regional and developmental expression in mouse brain | Q28487767 |
| | Transcription-associated R-loop formation across the human FMR1 CGG-repeat region | Q28537978 |
| | The mGluR theory of fragile X mental retardation | Q29615060 |
| | Differential increases of specific FMR1 mRNA isoforms in premutation carriers | Q30638597 |
| | Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of fragile X syndrome. | Q33607288 |
| | Early identification of autism in fragile X syndrome: a review | Q33620669 |
| | High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses | Q33706961 |
| | Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure | Q33787119 |
| | Associated features in females with an FMR1 premutation | Q34000722 |
| | AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission | Q34020825 |
| | Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. | Q34044314 |
| | Genomic studies in fragile X premutation carriers. | Q34101247 |
| | Clinical and molecular implications of mosaicism in FMR1 full mutations | Q34198878 |
| | Fragile X syndrome due to a missense mutation | Q34215629 |
| | Molecular mechanisms of fragile X syndrome: a twenty-year perspective | Q34226308 |
| | An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals | Q34699372 |
| | Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers | Q34856671 |
| | Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes. | Q35212704 |
| | Fragile X protein in newborn dried blood spots | Q35370016 |
| | Prevalence of CGG expansions of the FMR1 gene in a US population-based sample | Q36082674 |
| | Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency | Q36085633 |
| | EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders | Q36338209 |
| | Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency | Q36368705 |
| | Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice | Q36375813 |
| | Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms | Q36966653 |
| | Primary ovarian insufficiency: a more accurate term for premature ovarian failure. | Q36985950 |
| | A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome | Q36996583 |
| | Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population | Q37261871 |
| | Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. | Q37503306 |
| | Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms | Q37524454 |
| | Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome | Q37580522 |
| | Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. | Q37604170 |
| | AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome | Q37708595 |
| | The trouble with spines in fragile X syndrome: density, maturity and plasticity | Q38004374 |
| | Cytoplasmic RNA-binding proteins and the control of complex brain function | Q38020814 |
| | Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. | Q38461683 |
| | Pharmacotherapy for Fragile X Syndrome: Progress to Date. | Q38726962 |
| | Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future | Q38815239 |
| | Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells | Q39597255 |
| | S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade | Q39627495 |
| | Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. | Q40452043 |
| | In vitro reactivation of the FMR1 gene involved in fragile X syndrome | Q40868842 |
| | Absence of expression of the FMR-1 gene in fragile X syndrome | Q41669091 |
| | Fragile X genotype characterized by an unstable region of DNA. | Q43980470 |
| | Protein composition of the intranuclear inclusions of FXTAS. | Q44053371 |
| | Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome | Q44959699 |
| | High apolipoprotein E4 allele frequency in FXTAS patients. | Q45106065 |
| | Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. | Q46666276 |
| | Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles | Q47192550 |
| | Association of FMR1 repeat size with ovarian dysfunction | Q47397588 |
| | Rescue of NMDAR-dependent synaptic plasticity in Fmr1 knock-out mice | Q47723002 |
| | Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions | Q47874718 |
| | FMR6 may play a role in the pathogenesis of fragile X-associated premature ovarian insufficiency | Q48562397 |
| | Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice | Q48569575 |
| | Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome | Q50243801 |
| | An investigation of FRAXA intermediate allele phenotype in a longitudinal sample | Q50278621 |
| | Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay | Q50313649 |
| | Clinical features of boys with fragile X premutations and intermediate alleles | Q50344713 |
| | Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. | Q50623363 |
| | Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives. | Q50764568 |
| | Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. | Q51923151 |
| | Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. | Q51926110 |
| | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. | Q51934194 |
| | Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. | Q55692015 |
| P433 | issue | 2 | |
| P921 | main subject | fragile X syndrome | Q221472 |
| P304 | page(s) | 197-205 | |
| P577 | publication date | 2017-10-01 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Fragile X syndrome: An overview and update of the FMR1 gene | |
| P478 | volume | 93 | |