Results 61 to 70 of about 7,392 (202)

Cross‐syndrome comparison of psychopathological risk factors in Williams syndrome, fragile X syndrome and Prader–Willi syndrome

, 2018
Background: Psychopathology is highly prevalent in adolescents and adults with several genetic syndromes associated with intellectual disability, including Williams syndrome (WS), fragile X syndrome (FXS) and Prader–Willi syndrome (PWS).
Armitage, P, Oliver, C, Waite, J, Howlin, P, Dosse, A, Moss, J, Royston, R   +6 more
core   +1 more source

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

Developmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce, Julie M. Orlando, Kristin G. Cunningham, Sarah M. Ruggiero, Michael C. Kaufman, Jillian L. McKee, Ingo Helbig   +6 more
wiley   +1 more source

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome.

PLoS ONE, 2016
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing.
Nina Xie, He Gong, Joshua A Suhl, Pankaj Chopra, Tao Wang, Stephen T Warren   +5 more
doaj   +1 more source

A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs)

Scientific Reports, 2021
Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disabilities and autism spectrum disorders. FXS result from the loss of expression of the FMRP protein, an RNA-binding protein that regulates the expression of key synaptic ...
Olivier Dionne, François Corbin
doaj   +1 more source

De Novo Large Deletion Leading to Fragile X Syndrome

Frontiers in Genetics, 2022
Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of
Poonnada Jiraanont, Esther Manor, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone, Flora Tassone   +8 more
doaj   +1 more source

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core  

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

The FEBS Journal, EarlyView.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano, Alessandra Bigi, Francesca Troilo, Federica Gabriele, Gianluca Pistoia, Italia A. Asteriti, Francesco Angelucci, Giorgio Giardina, Fabrizio Chiti, Carlo Travaglini‐Allocatelli, Adele Di Matteo   +10 more
wiley   +1 more source

The application of Motion Analysis in Fragile X Syndrome

, 2022
reservedLa Sindrome dell’X Fragile (FXS) è la condizione monogenica ereditaria che produce più casi di disturbi dello spettro autistico e disabilità intellettive. La causa di questa patologia risiede nella mutazione del gene FMR1 situato nel cromosoma
BOSCHETTI, VALERIA
core  

Martin-Bell fragile X syndrome

, 2023
Fragile X syndrome (FXS) is one of the many disorders that are known and that are caused by some alteration or modification at the genetic level, one of the main characteristics of this type of syndrome also called Martin-Bell syndrome, is intellectual ...
Brissia Lazalde Medina, Andrea Lechuga Soriano   +1 more
core   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source