Results 91 to 100 of about 5,403 (160)

Health Care Resource Use and Direct Costs Associated with Fragile X Syndrome (FXS) in the United States [PDF]

Value in Health, 2013
Vekeman, F., Gauthier-Loiselle, M., Faust, E., Lefebvre, P., Lahoz, R., Duh, M.S., Sacco, P.   +6 more
openaire   +2 more sources

Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2012
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder.
Onur Ozer, Osman Demirhan, Erdal Tunc, Huseyin Bagci, Dilara Karahan, Nilgun Tanriverdi, Bertan Yilmaz, Ali Irfan Guzel, Ibrahim Keser   +8 more
doaj  

Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report [PDF]

Journal of Basic Research in Medical Sciences
Fragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead.
Ahoura Nozari, mahdieh Hassani, Javad Karimzad Hagh, Alireza Sadeghi, Narges Jalilian   +4 more
doaj  

Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model

Nature Communications
Fragile X syndrome (FXS) is an inherited form of intellectual disability caused by the loss of the mRNA-binding fragile X mental retardation protein (FMRP). FXS is characterized by neuronal hyperexcitability and behavioral defects, however the mechanisms
Danijela Bataveljic, Helena Pivonkova, Vidian de Concini, Betty Hébert, Pascal Ezan, Sylvain Briault, Alexis-Pierre Bemelmans, Jacques Pichon, Arnaud Menuet, Nathalie Rouach   +9 more
doaj   +1 more source

Women with the FMR1 premutation: a within-family observational sibling study

BMJ Connections Clinical Genetics and Genomics
Introduction Understanding the relative risk of the fragile X messenger ribonucleoprotein 1 (FMR1) premutation (PM) versus the risk of the PM and parenting a child with fragile X syndrome (FXS) is critical for PM carriers, their families and clinicians ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M Berry-Kravis, Marsha Mailick   +4 more
doaj   +1 more source

Matrix Metalloproteinase-9 and PeriNeuronal Nets as New Therapeutic Targets for Fragile X Syndrome (FXS)

Perineuronal nets (PNNs) are specialized forms of extracellular matrix that arise during development and control synaptic plasticity and functions. Overexpression of matrix metalloproteinases like MMP-9 degrades PNNs around GABAergic parvalbumin-positive (PV+) neurons in the developing auditory cortex (AC) of Fmr1KO mice.
Bertocchi Ilaria, Tempia Filippo, Hoxha Eriola, Oberto Alessandra, Luzzati Federico, Eva Carola, Nobile Veronica, Giuliani Lidia, Altieri Fabio, Tabolacci Elisabetta, Chiurazzi Pietro   +10 more
openaire   +1 more source

Simultaneous analysis of preimplantation genetic diagnosis (PGD) for fragile X syndrome (FXS) and array CGH (aCGH): advantages of selecting a PGD strategy with comprehensive diagnosis [PDF]

Fertility and Sterility, 2016
R. Prates, C. Racowsky, J.H. Fox, B. Chu, S. Munne   +4 more
openaire   +1 more source

Capturing Phenotypic Heterogeneity in Differentiated Sensory Processing Profiles: Non-Syndromic Autism and Fragile X Syndrome. [PDF]

Autism
Knott CE, Roberts JE, Will EA.
europepmc   +1 more source

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

J Neurodev Disord
Hourani SM, Utami KH, Oh SL, Castrén ML, Pouladi MA.   +4 more
europepmc   +1 more source

Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome. [PDF]

Neurol Genet
Van Steenbergen A, Kaur M, Rubanarayana K, Bolduc F.   +3 more
europepmc   +1 more source