Results 71 to 80 of about 206,873 (358)

Early Diagnosis of Fragile X Syndrome

Pediatric Neurology Briefs, 2003
Surveys from 274 families with at least one child with fragile X syndrome (FXS) were used to determine factors associated with the discovery of the diagnosis in a study at the University of North Carolina, Chapel Hill, NC.
J Gordon Millichap
doaj   +1 more source

Voltage-independent SK-channel dysfunction causes neuronal hyperexcitability in the hippocampus of Fmr1 knock-out mice [PDF]

, 2019
Neuronal hyperexcitability is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this critical dysfunction remain poorly understood. Here we report a major role of voltage-independent potassium (
Carlin, Dan, Cavalli, Valeria, Deng, Pan-Yue, Klyachko, Vitaly A, Myrick, Leila K, Oh, Young Mi, Warren, Stephen T   +6 more
core   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Adjuvant pharmacological strategies for the musculoskeletal system during long‐term space missions

British Journal of Clinical Pharmacology, EarlyView., 2023
Abstract Despite 2 h of daily exercise training, muscle wasting and bone loss are still present after 6‐month missions to the international space station. Some crew members lose bone much faster than others. In preparation for missions to the Moon and Mars, space agencies are therefore reviewing their countermeasure portfolios.
Friederike Thomasius, Dominik Pesta, Jörn Rittweger   +2 more
wiley   +1 more source

Molecular Biomarkers in Fragile X Syndrome

Brain Sciences, 2019
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and a known monogenic cause of autism spectrum disorder (ASD).
Marwa Zafarullah, Flora Tassone
doaj   +1 more source

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome [PDF]

, 2007
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary ...
Belangero, Sintia Iole, Bellucco, Fernanda Teixeira da Silva, Brunoni, Decio, Christofolini, Denise Maria, Costa, Silvia S., Kulikowski, Leslie Domenici, Lipay, Monica Vanucci Nunes, Melaragno, Maria Isabel, Ramos, Marco Antonio P.   +8 more
core   +3 more sources

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Of Men and Mice: Modeling the Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2018
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterized by a ...
Regina Dahlhaus
semanticscholar   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source