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searching for Fragile X syndrome 45 found (255 total)

Jean-Louis Mandel (1,981 words) [view diff] exact match in snippet view article find links to article

Biancalana, V, […], Mandel, J.-L. Five years of molecular diagnosis of Fragile X syndrome (1997-2001): A collaborative study reporting 95% of the activity in

Susumu Tonegawa (1,595 words) [view diff] case mismatch in snippet view article find links to article

spines in the temporal cortex are a likely target for treatment of Fragile X Syndrome. With one dosage of the inhibitor drug FRAX586, Tonegawa showed a

Eric Klann (1,310 words) [view diff] case mismatch in snippet view article find links to article

He also served on the Fragile X Outcomes Measures Group and the Fragile X Syndrome Research Plan Working Group of the National Institutes of Health.

FXR2 (1,344 words) [view diff] exact match in snippet view article find links to article

Zhang Y, Siomi H, Dreyfuss G (Jul 1996). "Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal

FXR1 (1,178 words) [view diff] exact match in snippet view article find links to article

Zhang Y; Siomi H; Dreyfuss G (July 1996). "Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal

Nissim Benvenisty (1,641 words) [view diff] exact match in snippet view article find links to article

than a dozen models for studying mainly neural diseases (such as Fragile X syndrome) and imprinting disorders (such as Prader-Willi syndrome). Tumorigenicity

CGGBP1 (877 words) [view diff] exact match in snippet view article find links to article

CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome". Hum. Mol. Genet. 3 (4): 615–20. doi:10.1093/hmg/3.4.615. PMID 8069307

Biorepository (957 words) [view diff] case mismatch in snippet view article find links to article

samples are from diseases such as Huntington Disease, Cystic Fibrosis, Fragile X Syndrome, Alpha-Thalassemia, and Muenke Syndrome. Biobank Biological database

WAVE regulatory complex (481 words) [view diff] exact match in snippet view article find links to article

family proteins between autism and intellectual disability: links with Fragile X syndrome". Frontiers in Cellular Neuroscience. 8: 81. doi:10.3389/fncel.2014

Merlin G. Butler (1,284 words) [view diff] exact match in snippet view article find links to article

Butler, Merlin G. (January 2018). "Rare FMR1 gene mutations causing fragile X syndrome: A review". American Journal of Medical Genetics Part A. "Merlin Butler"

KH domain (649 words) [view diff] exact match in snippet view article find links to article

structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome". Nat. Struct. Biol. 4 (9): 712–6. doi:10.1038/nsb0997-712. PMID 9302998

Claudio Cavazza (854 words) [view diff] exact match in snippet view article find links to article

title of meritorious member of the non-profit Italian association for fragile X syndrome (Associazione Italiana Sindrome X Fragile Onlus) for the commitment

Sensory integration therapy (2,598 words) [view diff] exact match in snippet view article find links to article

ecological model of sensory modulation: Performance of children with fragile X syndrome, autistic disorder, attention-deficit/hyperactivity disorder, and

National Society of Genetic Counselors (1,025 words) [view diff] case mismatch in snippet view article find links to article

include: Alzheimer Disease Cystic Fibrosis Down Syndrome Fabry Disease Fragile X Syndrome Hereditary Breast and Ovarian Cancer Prenatal Screening Position Statements:

Elizabeth Jonas (neurologist) (603 words) [view diff] case mismatch in snippet view article

"ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome". Cell. 182 (5): 1170–1185.e9. doi:10.1016/j.cell.2020.07.008. ISSN 0092-8674

James Stanfield (638 words) [view diff] case mismatch in snippet view article find links to article

July 4, 2013. Randi Jenssen Hagerman and Paul J. Hagerman (2002). Fragile X Syndrome: Diagnosis, Treatment, and Research. Johns Hopkins University Press

Marcus Pembrey (873 words) [view diff] case mismatch in snippet view article find links to article

focused on ‘non-Mendelian inheritance’; first on the inheritance of Fragile X Syndrome for which he proposed a ’premutation’ in 1985. and then Angelman Syndrome

EIF4E (8,380 words) [view diff] case mismatch in snippet view article find links to article

Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C (September 2008). "The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a

Eric Courchesne (1,428 words) [view diff] exact match in snippet view article find links to article

Lightbody AA, et al. Trajectories of early brain volume development in fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry. Sep 2012;51(9):921-933

Neurosteroid (4,347 words) [view diff] exact match in snippet view article find links to article

studies are currently underway in posttraumatic stress disorder and fragile X syndrome. Ganaxolone was approved for medical use in the United States in March

Metabotropic glutamate receptor (3,629 words) [view diff] exact match in snippet view article find links to article

Auerbach BD, Chattarji S, Bear MF (December 2007). "Correction of fragile X syndrome in mice". Neuron. 56 (6): 955–62. doi:10.1016/j.neuron.2007.12.001

Brian Christie (neuroscientist) (1,079 words) [view diff] case mismatch in snippet view article

Alzheimer's Disease, stroke, Fetal Alcohol Syndrome Disorder (FASD), Fragile X Syndrome (FXS) and Attention Deficit Hyperactivity Disorder (ADHD). particularly

UC Davis Medical Center (2,697 words) [view diff] exact match in snippet view article find links to article

causes and cures for autism, attention deficit hyperactivity disorder, fragile X syndrome, Tourette syndrome and other neurodevelopmental disorders. The center

Stephen Porges (1,569 words) [view diff] case mismatch in snippet view article find links to article

Zageris D, Berry-Kravis E, Porges SW (2011). Autonomic regulation in Fragile X Syndrome. Developmental Psychobiology 53:785–795. Heilman KJ, Connolly SD,

Non B-DNA (794 words) [view diff] exact match in snippet view article find links to article

cancer. Triplexes have been associated with genetic diseases, such as fragile X syndrome and Huntington's disease. Richmond, Timothy J.; Davey, Curt A. (2003-05-08)

Daniele Piomelli (1,050 words) [view diff] exact match in snippet view article find links to article

“Uncoupling of the endocannabinoid signaling complex in a mouse model of fragile X syndrome”. Nature Communications 3 (1080). PMID 23011134. Calignano A, La Rana

Hollis Cline (1,024 words) [view diff] case mismatch in snippet view article find links to article

relevance to a variety of developmental neurological disorders such as Fragile X Syndrome, Rett Syndrome, autism spectrum disorders, and schizophrenia - which

Poor ovarian reserve (3,688 words) [view diff] case mismatch in snippet view article find links to article

ovarian reserve due to age. Idiopathic. Genetic factors, such as fragile x syndrome. Approximately 20–28% of women with an FMR1 premutation (55–200 CGG

Cheryl Dissanayake (870 words) [view diff] case mismatch in snippet view article find links to article

Dissanayake has investigated autism manifestations in boys with Fragile X Syndrome (FXS) and compared the behavioural and cognitive profiles in Autistic

List of paradoxes (7,839 words) [view diff] exact match in snippet view article find links to article

species? Sherman paradox: An anomalous pattern of inheritance in the fragile X syndrome. Taxonomic boundary paradox: The concept for a taxon can overlap in

RNA-binding protein (4,589 words) [view diff] exact match in snippet view article find links to article

dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome". Developmental Cell. 14 (6): 926–39. doi:10.1016/j.devcel.2008.04

Willardiine (4,891 words) [view diff] case mismatch in snippet view article find links to article

Childhood Neurodevelopmental Disorders: Autism Spectrum Disorders and Fragile X Syndrome". Current Neuropharmacology. 12 (1): 71–98. doi:10.2174/1570159x113116660046

William Rees Brebner Robertson (960 words) [view diff] exact match in snippet view article find links to article

TINTEA I; POP B; MILITARU M; BIZO A; HRUSCA A (2017). "Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child". Clujul

GABAA receptor (5,992 words) [view diff] exact match in snippet view article find links to article

system is disrupted in numerous neurodevelopmental diseases, including fragile X syndrome, Rett syndrome, and Dravet syndrome, and that it is a crucial potential

Epigenome editing (3,122 words) [view diff] case mismatch in snippet view article find links to article

Krzisch M, Wu X, Graef J, Muffat J, et al. (February 2018). "Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene". Cell. 172 (5):

Regeneration (biology) (9,262 words) [view diff] exact match in snippet view article

(July 2007). "Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice". Proceedings of the National Academy of Sciences of the United

List of human clusters of differentiation (467 words) [view diff] exact match in snippet view article find links to article

retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. CD232 Plexin-C1 (PLXNC1 gene); also called

Activity-dependent plasticity (4,424 words) [view diff] exact match in snippet view article find links to article

gene, FMR1, is highly involved in activity-dependent plasticity and fragile X syndrome (FraX) is the result of this gene's loss of function. FMR1 produces

MTORC1 (7,803 words) [view diff] exact match in snippet view article find links to article

Takayasu Y, et al. (January 2010). "Dysregulation of mTOR signaling in fragile X syndrome". The Journal of Neuroscience. 30 (2): 694–702. doi:10.1523/JNEUROSCI

Educational neuroscience (12,275 words) [view diff] exact match in snippet view article find links to article

MMM; McCloskey, M (2005). "Math performance in girls with Turner or fragile X syndrome". In Campbell, JID (ed.). Handbook of Mathematical Cognition. Psychology

2013 Birthday Honours (22,310 words) [view diff] case mismatch in snippet view article find links to article

Northern Ireland. Ada Mary Maude, Mrs. Brownlie. For services to Fragile X Syndrome and Fragile X-associated Tremor/ Ataxia Syndrome Research. Robert

Yehezkel Ben-Ari (2,385 words) [view diff] exact match in snippet view article find links to article

Roman; Grandgeorge, Marine; Ben-Ari, Yehezkel (June 2013). "Treating Fragile X syndrome with the diuretic bumetanide: a case report". Acta Paediatrica. 102

Mechanism of autism (3,652 words) [view diff] exact match in snippet view article find links to article

Smith GB, Auerbach BD, Chattarji S, Bear MF (2007). "Correction of fragile X syndrome in mice". Neuron. 56 (6): 955–62. doi:10.1016/j.neuron.2007.12.001

Stress granule (12,548 words) [view diff] no match in snippet view article find links to article

is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP". Human Molecular Genetics. 17 (20): 3236–3246. doi:10

Cheerleading in Australia (26,123 words) [view diff] case mismatch in snippet view article find links to article

Ataxia Athetosis Visual impairment Intellectual impairment (including Fragile X Syndrome, Down Syndrome, Autism Spectrum Disorders, Foetal Alcohol Syndrome