scholarly article | Q13442814 |
P356 | DOI | 10.1093/HMG/3.4.615 |
P698 | PubMed publication ID | 8069307 |
P2093 | author name string | Fryns JP | |
de Die-Smulders CE | |||
Oostra BA | |||
Engelen JJ | |||
de Graaff E | |||
Meijer H | |||
Jongbloed RJ | |||
Curfs PM | |||
Merckx DM | |||
P433 | issue | 4 | |
P921 | main subject | fragile X syndrome | Q221472 |
phenotype | Q104053 | ||
P304 | page(s) | 615-620 | |
P577 | publication date | 1994-04-01 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome | |
P478 | volume | 3 |
Q36140127 | A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication |
Q34699372 | An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals |
Q35644285 | An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene |
Q30872524 | Comparison of insertion/deletion calling algorithms on human next-generation sequencing data |
Q34698731 | Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation |
Q38354157 | Deletion in the FMR1 gene in a fragile-X male |
Q51985532 | Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. |
Q35249738 | Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression |
Q47071433 | Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain |
Q36338209 | EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders |
Q24610645 | Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles |
Q48300723 | FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome |
Q28115097 | FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association |
Q35882271 | Familial transmission of the FMR1 CGG repeat. |
Q48062203 | Fragile X founder effects and new mutations in Finland |
Q28303541 | Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes |
Q41167683 | Fragile X syndrome in humans and mice |
Q35691404 | Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder |
Q34185158 | Fragile X syndrome. Molecular and clinical insights and treatment issues |
Q51984692 | Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians. |
Q34370439 | Genetic neuropathology of obsessive psychiatric syndromes. |
Q35433625 | Increase of FMRP expression, raised levels of FMR1 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? |
Q35643664 | Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. |
Q41315849 | Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome |
Q35881984 | Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. |
Q34930681 | Long CTG Tracts from the Myotonic Dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells |
Q33537385 | Molecular and cellular genetics of fragile X syndrome |
Q28583305 | Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets |
Q81083809 | Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature |
Q33677257 | Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene |
Q37310647 | Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats |
Q37989764 | New perspectives on the biology of fragile X syndrome |
Q35643426 | Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. |
Q34446607 | Pharmacological reactivation of inactive genes: the fragile X experience |
Q51955305 | Pilot study for the neonatal screening of fragile X syndrome. |
Q35643830 | Quantitative comparison of FMR1 gene expression in normal and premutation alleles |
Q47630636 | Recent advances in assays for the fragile X-related disorders. |
Q50166708 | Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome. |
Q35196556 | Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders |
Q41579814 | Screening for fragile X syndrome: information needs for health planners |
Q50746343 | Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. |
Q35107268 | Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature |
Q33681082 | Studies of FRAXA and FRAXE in women with premature ovarian failure |
Q47071008 | The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis. |
Q35061671 | The FMR1 gene and fragile X-associated tremor/ataxia syndrome |
Q48061195 | The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells |
Q74809876 | The fragile X syndrome |
Q28208647 | The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses |
Q35170163 | The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge |
Q27025923 | The unstable repeats--three evolving faces of neurological disease |
Q28119013 | Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein |
Q35643836 | Two new cases of FMR1 deletion associated with mental impairment. |
Q73013123 | X-linked mental retardation |
Search more.