| P2093 | author name string | Neri G | |
| | Chiurazzi P | |
| P2860 | cites work | DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene | Q72761322 |
| | Trinucleotide diseases on the rise | Q72781881 |
| | Association of fragile X syndrome with delayed replication of the FMR1 gene | Q72814407 |
| | Fragile X: treatment of hyperactivity | Q73351384 |
| | Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1 | Q73709397 |
| | Trinucleotide repeats affect DNA replication in vivo | Q73839003 |
| | Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations | Q74586397 |
| | Evolution of simple repeats in DNA and their relation to human disease | Q77058046 |
| | A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE. | Q22337041 |
| | Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene | Q24310425 |
| | Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome | Q24310518 |
| | Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome) | Q24311995 |
| | Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation | Q24314619 |
| | Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome | Q24320198 |
| | Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 | Q24323194 |
| | Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor | Q24336343 |
| | Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome | Q24336705 |
| | Transcriptional organization of a 450-kb region of the human X chromosome in Xq28 | Q24564001 |
| | Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them | Q24648900 |
| | Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation | Q24657890 |
| | FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association | Q28115097 |
| | The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein | Q28117885 |
| | Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27 | Q28237511 |
| | Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain | Q28250947 |
| | Stalling of human DNA (cytosine-5) methyltransferase at single-strand conformers from a site of dynamic mutation | Q28260584 |
| | Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA | Q28265233 |
| | Characterization and localization of the FMR-1 gene product associated with fragile X syndrome | Q28270283 |
| | Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 |
| | Molecular basis of genetic instability of triplet repeats | Q28277837 |
| | XNP mutation in a large family with Juberg-Marsidi syndrome | Q28278741 |
| | Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1 | Q28279261 |
| | PAK3 mutation in nonsyndromic X-linked mental retardation | Q28281729 |
| | Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 | Q28284655 |
| | Molecular cloning of a new member of the p21-Cdc42/Rac-activated kinase (PAK) family | Q28289551 |
| | ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome | Q28299644 |
| | Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype | Q33595787 |
| | A newly defined X linked mental retardation syndrome associated with alpha thalassaemia | Q33597729 |
| | Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance | Q33597734 |
| | X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males | Q33597739 |
| | The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage | Q33597743 |
| | Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome | Q33676149 |
| | The Coffin-Lowry syndrome | Q33676721 |
| | Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene | Q33677257 |
| | Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal | Q33678605 |
| | A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma | Q33680230 |
| | FMR1 triplet arrays: paying the price for perfection | Q33682546 |
| | A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome | Q34332608 |
| | Fine structure of the human FMR1 gene | Q34357343 |
| | Mutations in GDI1 are responsible for X-linked non-specific mental retardation | Q34471146 |
| | Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure | Q34665039 |
| | Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression | Q35249738 |
| | Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus | Q37600444 |
| | Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias | Q37697818 |
| | Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. | Q38289363 |
| | Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients | Q38300610 |
| | Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. | Q52025538 |
| | No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. | Q52026098 |
| | Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. | Q52034632 |
| | DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation. | Q52035178 |
| | In vitro DNA methylation inhibits FMR-1 promoter. | Q52036026 |
| | DNA methylation represses FMR-1 transcription in fragile X syndrome | Q52042005 |
| | Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. | Q52051935 |
| | XLMR genes: update 1990. | Q52051958 |
| | Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. | Q52070417 |
| | Population incidence and segregation ratios in the Martin-Bell syndrome. | Q52080137 |
| | Folic acid treatment in males and females with fragile-(X)-syndrome. | Q52080851 |
| | The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies | Q52091551 |
| | A Weaver-like syndrome in a Japanese boy. | Q52093276 |
| | A new X-linked mental retardation-overgrowth syndrome. | Q52093498 |
| | The Coffin-Lowry syndrome. Experience from four centres. | Q52098574 |
| | Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? | Q52100788 |
| | Nonspecific X-linked mental retardation II: the frequency in British Columbia. | Q52105786 |
| | The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome | Q52114342 |
| | A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. | Q52251870 |
| | The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes. | Q52255141 |
| | FMRP is associated to the ribosomes via RNA. | Q52520889 |
| | The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. | Q54047243 |
| | XLMR genes: Update 1998 | Q56389610 |
| | A New Dominant Gene Mental Retardation Syndrome | Q56505393 |
| | A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without a-Thalassemia | Q56567434 |
| | Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families | Q57738040 |
| | Glypicans: a growing trend | Q57791371 |
| | Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome | Q59620985 |
| | A new X-linked mental retardation syndrome | Q60228546 |
| | Fragile X syndrome and deletions in FMR1: New case and review of the literature | Q63390356 |
| | Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome | Q67597081 |
| | Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome | Q67945209 |
| | Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family | Q67945211 |
| | A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? | Q70646316 |
| | The Golabi-Rosen syndrome | Q70801235 |
| | Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis | Q70996226 |
| | Aarskog syndrome: full male and female expression associated with an X-autosome translocation | Q71316271 |
| | Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range | Q71453749 |
| | Prevalence of fragile X syndrome | Q71578926 |
| | Significance of linkage disequilibrium between the fragile X locus and its flanking markers | Q71578932 |
| | Prenatal diagnosis of fragile X syndrome | Q71620489 |
| | Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall | Q71730805 |
| | The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system | Q71806485 |
| | Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families | Q71869806 |
| | Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene | Q71990418 |
| | Simple repeat DNA is not replicated simply | Q72372652 |
| | Precursor arrays for triplet repeat expansion at the fragile X locus | Q72449243 |
| | Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation | Q72533267 |
| | An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype | Q72706845 |
| | The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation | Q38317052 |
| | Methylation analysis of CGG sites in the CpG island of the human FMR1 gene | Q38324995 |
| | High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression | Q39111846 |
| | Length of uninterrupted CGG repeats determines instability in the FMR1 gene | Q39111985 |
| | The Golabi-Rosen syndrome--report of a second family | Q39347530 |
| | Trinucleotide repeats associated with human disease | Q39720404 |
| | Oral folic acid versus placebo in the treatment of males with the fragile X syndrome | Q39729110 |
| | Slippage synthesis of simple sequence DNA | Q40411493 |
| | Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). | Q40511256 |
| | Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome | Q40562685 |
| | In vitro reactivation of the FMR1 gene involved in fragile X syndrome | Q40868842 |
| | Creation of genomic methylation patterns | Q40986760 |
| | Association of FMRP with ribosomal precursor particles in the nucleolus | Q41176199 |
| | Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature | Q41178545 |
| | Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms | Q41249427 |
| | Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome | Q41315849 |
| | Structural insights into the function of the Rab GDI superfamily | Q41331147 |
| | A point mutation in the FMR-1 gene associated with fragile X mental retardation | Q41579799 |
| | Absence of expression of the FMR-1 gene in fragile X syndrome | Q41669091 |
| | Secondary structures in d(CGG) and d(CCG) repeat tracts | Q41694549 |
| | Alternative splicing in the fragile X gene FMR1. | Q42623011 |
| | Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. | Q42664271 |
| | The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes | Q42796063 |
| | Neuroanatomy of fragile X syndrome: the posterior fossa | Q43827613 |
| | Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. | Q44748188 |
| | Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation | Q45283919 |
| | The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13). | Q46133487 |
| | Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome | Q47372261 |
| | Mind the GAP, Rho, Rab and GDI. | Q47991954 |
| | Role of late replication timing in the silencing of X-linked genes | Q48060544 |
| | The role of Rab3A in neurotransmitter release | Q48106348 |
| | A girl with G syndrome and agenesis of the corpus callosum | Q48200857 |
| | Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat | Q48255852 |
| | Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain | Q48275073 |
| | Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome | Q48351859 |
| | Analysis of neocortex in three males with the fragile X syndrome | Q48619801 |
| | Epilepsy and fragile X syndrome: a follow-up study | Q48801232 |
| | Characterization of the full fragile X syndrome mutation in fetal gametes | Q48964703 |
| | A new X-linked mental retardation syndrome | Q49195906 |
| | Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. | Q50531493 |
| | The Coffin syndrome. | Q51048492 |
| | Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. | Q52008919 |
| | Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. | Q52011741 |
| | Normal phenotype in two brothers with a full FMR1 mutation. | Q52012540 |
| | Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples. | Q52013746 |
| | Rapid antibody test for fragile X syndrome. | Q52016309 |
| | Translational suppression by trinucleotide repeat expansion at FMR1. | Q52016323 |
| | Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. | Q52017909 |
| | Neurodevelopmental effects of the FMR-1 full mutation in humans. | Q52019051 |
| | No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. | Q52024867 |
| P304 | page(s) | 55-94 | |
| P577 | publication date | 1999-01-01 | |
| P1433 | published in | Advances in Genetics | Q26842228 |
| P1476 | title | X-linked mental retardation | |
| P478 | volume | 41 | |