Additional file 1: of Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Autor: Baker, Emma, Arpone, Marta, Aliaga, Solange, Bretherton, Lesley, Kraan, Claudine, Bui, Minh, Slater, Howard, Ling, Ling, Francis, David, Hunter, Matthew, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David, Godler, David

Table S1. Comparison between males and females intellectual functioning (standard) scores. Table S2. Comparison between FM-only males with complete and incomplete FMR1 mRNA silencing on intellectual functioning (corrected) scores and autism features.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5adf9433c3605f9485e80a0eac5943ba

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

Autor: Aliaga, Solange M., Slater, Howard R., Francis, David, Du Sart, Desiree, Xin Li, Amor, David J., Alliende, Angelica M., Maria, Lorena Santa, Faundes, Víctor, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Curotto, Bianca, Godler, David E.

Publikováno v: Clinical Chemistry; Feb2016, Vol. 62 Issue 2, p343-352, 10p, 1 Diagram, 2 Charts, 3 Graphs

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

Autor: Hall DA; Department of Neurological Sciences, Rush University, Chicago, IL, USA., Robertson E; Department of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA., Shelton AL; School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia., Losh MC; Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, USA., Mila M; Servei de Bioquímica i Genètica Molecular. Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Moreno EG; Neuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.; Neuroimaging Research Group, Hospital Sant Pau, IIB-Sant Pau, UAB, Barcelona, Spain., Gomez-Anson B; Neuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.; Neuroimaging Research Group, Hospital Sant Pau, IIB-Sant Pau, UAB, Barcelona, Spain.; Universitat Autonoma Barcelona, Barcelona, Spain., Martínez-Cerdeño V; Department of Pathology and Laboratory Medicine, University of California at Davis Medical Center, Sacramento, CA, USA., Grigsby J; Departments of Medicine and Psychology at the University of Colorado Denver, Aurora, CO, USA., Lozano R; Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hagerman R; Department of Pediatrics & MIND Institute, University of California at Davis Medical Center, Sacramento, CA, USA., Maria LS; Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile., Berry-Kravis E; Department of Neurological Sciences, Rush University, Chicago, IL, USA.; Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL, USA., O'Keefe JA; Department of Neurological Sciences, Rush University, Chicago, IL, USA. joan_a_okeefe@rush.edu.; Department of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA. joan_a_okeefe@rush.edu.

Publikováno v: Cerebellum (London, England) [Cerebellum] 2016 Oct; Vol. 15 (5), pp. 578-86.