Results 61 to 70 of about 7,289,232 (294)

Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj  

Aging in fragile X syndrome [PDF]

Journal of Neurodevelopmental Disorders, 2010
Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women ...
Utari, Agustini, Adams, Evan, Berry-Kravis, Elizabeth, Chavez, Alyssa, Scaggs, Felicia, Ngotran, Lily, Boyd, Antoniya, Hessl, David, Gane, Louise W., Tassone, Flora, Tartaglia, Nicole, Leehey, Maureen A., Hagerman, Randi J.   +12 more
openaire   +4 more sources

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

SAGE Open Medicine
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone   +22 more
doaj   +1 more source

Expressive language abilities of boys with idiopathic autism spectrum disorder and boys with fragile X syndrome + autism spectrum disorder: Cross-context comparisons

Autism and Developmental Language Impairments, 2020
Background and aims Understanding the unique expressive language profiles of children with phenotypically similar, but distinct neurodevelopmental disorders, such as idiopathic autism spectrum disorder and fragile X syndrome with a co-diagnosis of autism
Elizabeth Hilvert, Audra Sterling, Eileen Haebig, Laura Friedman   +3 more
doaj   +1 more source

Speech fluency in fragile X syndrome

, 2008
The present study investigated the dysfluencies in the speech of nine French speaking individuals with fragile X syndrome. Type, number, and loci of dysfluencies were analysed.
Rondal, Jean, John Van Borsel, Van Borsel, John, Orianne Dor, Dor, Orianne, Jean Rondal   +5 more
core   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Fragile X Syndrome [PDF]

Fact sheet about fragile X ...
Stone, William L, Shah, Manan, MD, Los, Evan, Basit, Hajira   +3 more
core   +1 more source