X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 - Test2 - elhamkhani - TriplyDB

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

http://www.wikidata.org/entity/Q24563790

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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation High prevalence of SLC6A8 deficiency in X-linked mental retardation A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.The genetic basis of non-syndromic intellectual disability: a review The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.A novel mouse model of creatine transporter deficiency.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.Creatine transporter deficiency in two adult patients with static encephalopathy.AMPK-sensitive cellular transport.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Human, rat and chicken small intestinal Na+ - Cl- -creatine transporter: functional, molecular characterization and localization.Pyruvate and creatine prevent oxidative stress and behavioral alterations caused by phenylalanine administration into hippocampus of rats.Mapping an X-linked locus that influences heat-induced febrile seizures in mice.Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.Downregulation of the creatine transporter SLC6A8 by JAK2.Creatine and pyruvate prevent the alterations caused by tyrosine on parameters of oxidative stress and enzyme activities of phosphoryltransfer network in cerebral cortex of Wistar rats.The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

P2860

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P2860

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

http://www.wikidata.org/entity/Q24563790

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2002 nî lūn-bûn

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2002 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2002 թվականի մայիսին հրատարակված գիտական հոդված

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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American Journal of Human Genetics

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X-linked mental retardation wi ...... gene (SLC6A8) located in Xq28

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P2093

Charles E Schwartz

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Cornelis Jakobs

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Darci Tackels-Horne

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Gajja S Salomons

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Harold A Taylor

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Herbert A Lubs

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Kenton R Holden

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Kimberly A Hahn

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Richard J Schroer

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Rick L Olson

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P2860

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

Cloning, pharmacological characterization, and genomic localization of the human creatine transporter

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

Renpenning syndrome maps to Xp11.

Easy calculations of lod scores and genetic risks on small computers

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

X-linked mental retardation.

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1349-56

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10.1086/340092

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5

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2002-05-01T00:00:00Z

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11465970

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11898126

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447610

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