Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe, +18

Cell

Breakpoint Cluster RegionFragile X SyndromeMendelian DisorderGenetic DisorderGenetics +9

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz, +6

Science

Phenotypic ExpressionEpigenetic ChangeGeneticsMolecular BiologyEpigenetics +14

Absence of expression of the FMR-1 gene in fragile X syndrome

Maura Pieretti, F Zhang, Ying‐Hui Fu, +4

Cell

Fragile X SyndromeDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +9

Fragile X Genotype Characterized by an Unstable Region of DNA

Shuancang Yu, Melanie Pritchard, Eric J. Kremer, +9

Science

CytogeneticsFragile X GenotypeGeneticsMolecular BiologyMolecular Genetics +18

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Didier Devys, Yves Lutz, N. Rouyer, +2

Nature Genetics

Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderFragile X SpectrumDegenerative Disease +10

DNA methylation represses <i>FMR-1</i> transcription in fragile X syndrome

James S. Sutcliffe, David L. Nelson, Fuping Zhang, +4

Human Molecular Genetics

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Coleta Verheij, Cathy Bakker, Esther de Graaff, +7

Nature

Fragile X SyndromeMendelian DisorderFmr-1 Gene ProductGenetic DisorderGenetics +10

Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

Bert de Vries, Ans M.W. van den Ouweland, Serieta Mohkamsing, +9

The American Journal of Human Genetics

DisabilityPsychological SurveyMental HealthDevelopmental DisabilitiesSocial Impairment +14

Rapid antibody test for fragile X syndrome

Rob Willemsen, Serieta Mohkamsing, Bert de Vries, +5

The Lancet

Autoimmune DiseaseMedicineImmunologyFragile X SpectrumPathology +8

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

Kellie A. Lugenbeel, Andrea Peier, Nancy Carson, +2

Nature Genetics

Fragile X SyndromeGenome InstabilityDevelopmental BiologyMendelian DisorderGenetic Disorder +10