Results 191 to 200 of about 15,002 (209)

Checklist assessments of FMR1 gene mutation phenotypes.

Journal of cultural diversity, 2009
Fragile X Syndrome (FXS) caused by the mutation of the FMR1 gene, is the most common inherited cause of intellectual disability, autism, and other psychoneurological disorders. Timely identification of young children with social or emotional challenges is urged in that emotional and social problems are often overlooked until problems reach serious ...
openaire   +1 more source

Reactivation of the FMR1 Gene

2017
Elisabetta Tabolacci, Pietro Chiurazzi
openaire   +1 more source

Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome

Genes, 2023
Kathryn K Chadman, Tatyana Adayev, Rida Ahmed   +2 more
exaly  

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

Genes, 2022
Montserrat Morales-Conejo, Maria Teresa Sanchez Calvin, Juan FRANCISCO Quesada-Espinosa   +2 more
exaly  

Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene

Human Molecular Genetics, 1999
Pietro Chiurazzi, Maria Grazia Pomponi, Cathy E Bakker   +2 more
exaly  

Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome

Brain Sciences, 2019
Daman Kumari, Inbal Gazy, Karen Usdin
exaly  

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

Neurogenetics, 2012
Sandesh C S Nagamani, Frank J Probst, Terry Bertin   +2 more
exaly  

The association of CGG repeats in the FMR1 gene and timing of natural menopause

Human Reproduction, 2013
Yvonne T Van Der Schouw, F J Broekmans, B C J M Fauser   +2 more
exaly  

Premutations in theFMR1 gene as a modifying factor inParkin-associated Parkinson's disease?

Movement Disorders, 2005
Katja Hedrich, Cesa Scaglione, Eberhard Schwinger   +2 more
exaly  

Fear-Specific Amygdala Function in Children and Adolescents on the Fragile X Spectrum: A Dosage Response of the FMR1 Gene

Cerebral Cortex, 2014
Kami Koldewyn, Sumantra Chattarji, Flora Tassone   +2 more
exaly