x-linked mental retardation - Medical Dictionary

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x-linked mental retardation		A class of genetic disorders resulting in mental retardation that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome. [ Articles \| Books \| Images \| Discussion groups ]

Additional comments : References Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Authors: Borck G, Mollà-Herman A, Boddaert N, Encha-Razavi F, Philippe A, Robel L, Desguerre I, Brunelle F, Benmerah A, Munnich A, Colleaux L Journal: Hum Mutat Fiberoptic intubation through an I-gel supraglottic airway in two patients with predicted difficult airway and intellectual disability. Authors: Michalek P, Hodgkinson P, Donaldson W Journal: Anesth Analg Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects. Authors: Dai L, Xing L, Gong P, Zhang K, Gao X, Zheng Z, Zhou J, Guo Y, Guo S, Zhang F Journal: J Hum Genet Developmental trajectories and correlates of sensory processing in young boys with fragile X syndrome. Authors: Baranek GT, Roberts JE, David FJ, Sideris J, Mirrett PL, Hatton DD, Bailey DB Journal: Phys Occup Ther Pediatr MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Authors: Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW Journal: Eur J Hum Genet Gene symbol: LAMP2. Disease: Glycogen storage disease 2b. Authors: Viéitez I, Teijeira S, Miranda S, San Millán B, Navarro C Journal: Hum Genet Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Authors: Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS Journal: Neurogenetics Expanded clinical phenotype of women with the FMR1 premutation. Authors: Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ Journal: Am J Med Genet A SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Authors: Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P Journal: Am J Hum Genet Genetic evaluation of intellectual disabilities. Authors: Moeschler JB Journal: Semin Pediatr Neurol Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome. Authors: Kim SH, Markham JA, Weiler IJ, Greenough WT Journal: Proc Natl Acad Sci U S A Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Authors: Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H Journal: Neurology Rapid exacerbation in an elderly case of adult-onset X-linked adrenoleukodystrophy with cerebral corticospinal tract involvement. Authors: Saito T, Mizuno T, Watanabe T, Ida M, Nakase H Journal: Arch Neurol Reducing glutamate signaling pays off in fragile X. Authors: Bassell GJ, Gross C Journal: Nat Med Premature ovarian failure: a phenotypic expression of fragile X premutation. Authors: Holoch K, Stein Q, Flanagan J, Hansen K Journal: S D Med In vivo correction of a Menkes disease model using antisense oligonucleotides. Authors: Madsen EC, Morcos PA, Mendelsohn BA, Gitlin JD Journal: Proc Natl Acad Sci U S A MeCP2 binding to DNA depends upon hydration at methyl-CpG. Authors: Ho KL, McNae IW, Schmiedeberg L, Klose RJ, Bird AP, Walkinshaw MD Journal: Mol Cell Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Authors: Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S Journal: Obstet Gynecol Early determinants of fractures in Rett syndrome. Authors: Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H Journal: Pediatrics Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Authors: Bailey DB, Skinner D, Davis AM, Whitmarsh I, Powell C Journal: Pediatrics Adrenoleukodystrophy--a new mutation identified. Authors: Vachalova I, Chandoga J, Petrovic R, Copikova-Cudrakova D, Sykora M, Traubner P Journal: Bratisl Lek Listy Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. Authors: Belichenko NP, Belichenko PV, Li HH, Mobley WC, Francke U Journal: J Comp Neurol Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26. Authors: Lazzaro MA, Todd MA, Lavigne P, Vallee D, De Maria A, Picketts DJ Journal: BMC Med Genet Haematopoietic stem-cell transplant for adult cerebral adrenoleukodystrophy. Authors: Fitzpatrick AS, Loughrey CM, Johnston P, McKee S, Spence W, Flynn P, Jones FG, Morrow JI Journal: Eur J Neurol Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. Authors: Bui YK, Renella P, Martinez-Agosto JA, Verity A, Madikians A, Alejos JC Journal: Pediatr Transplant Mathematics learning disabilities in girls with fragile X or Turner syndrome during late elementary school. Authors: Murphy MM, Mazzocco MM Journal: J Learn Disabil A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons. Authors: Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK Journal: Hum Mutat A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease. Authors: Zhang LP, Lü JL, Wang XH, Zou LP Journal: Chin Med J (Engl) Cerebellar T2 hyperintensities in a patient with tremor. Authors: Sadeh M, Lossos A Journal: Neurology Child and genetic variables associated with maternal adaptation to fragile X syndrome: a multidimensional analysis. Authors: Bailey DB, Sideris J, Roberts J, Hatton D Journal: Am J Med Genet A The impact of having a sibling with an intellectual disability: parental perspectives in two disorders. Authors: Mulroy S, Robertson L, Aiberti K, Leonard H, Bower C Journal: J Intellect Disabil Res Deletion of the OPHN1 gene detected by aCGH. Authors: Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Milà M Journal: J Intellect Disabil Res Neonatal diagnosis and treatment of Menkes disease. Authors: Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N Journal: N Engl J Med Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Authors: Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J Journal: Am J Hum Genet Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX). Authors: Delbridge ML, McMillan DA, Doherty RJ, Deakin JE, Graves JA Journal: BMC Genomics Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Authors: Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J Journal: Pediatrics Genetic obesity syndromes. Authors: Goldstone AP, Beales PL Journal: Front Horm Res Syntactic complexity during conversation of boys with fragile X syndrome and Down syndrome. Authors: Price JR, Roberts JE, Hennon EA, Berni MC, Anderson KL, Sideris J Journal: J Speech Lang Hear Res Histone deacetylase inhibitors: possible implications for neurodegenerative disorders. Authors: Hahnen E, Hauke J, Tränkle C, Eyüpoglu IY, Wirth B, Blümcke I Journal: Expert Opin Investig Drugs Possible new clinical sign of hyperammonemia. Authors: Pupko HA Journal: CMAJ Sympathetic overactivity and plasma leptin levels in Rett syndrome. Authors: Acampa M, Guideri F, Hayek J, Blardi P, De Lalla A, Zappella M, Auteri A Journal: Neurosci Lett Normal Neurogenesis but Abnormal Gene Expression in Human Fragile X Cortical Progenitor Cells. Authors: Bhattacharyya A, McMillan E, Wallace K, Tubon TC, Capowski EE, Svendsen CN Journal: Stem Cells Dev [Telethon--a bioethical crystallization] Authors: Nau JY Journal: Rev Med Suisse Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. Authors: Maccotta L, Sherr EH Journal: Nat Clin Pract Neurol Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Authors: Grigsby J, Brega AG, Engle K, Leehey MA, Hagerman RJ, Tassone F, Hessl D, Hagerman PJ, Cogswell JB, Bennett RE, Cook K, Hall DA, Bounds LS, Paulich MJ, Reynolds A Journal: Neuropsychology Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: baseline findings from a longitudinal study. Authors: Hooper SR, Hatton D, Sideris J, Sullivan K, Hammer J, Schaaf J, Mirrett P, Ornstein PA, Bailey DP Journal: Neuropsychology Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy. Authors: Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S Journal: Biochim Biophys Acta A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate. Authors: Han Z, Berendzen K, Zhong L, Surolia I, Chouthai N, Zhao W, Maina N, Srivastava A, Stacpoole PW Journal: Mol Genet Metab MeCP2-dependent repression of an imprinted miR-184 released by depolarization. Authors: Nomura T, Kimura M, Horii T, Morita S, Soejima H, Kudo S, Hatada I Journal: Hum Mol Genet A note on X linked adrenoleukodystrophy (Addison-Schilder syndrome). Authors: Pearce JM Journal: J Neurol Neurosurg Psychiatry Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome. Authors: Dölen G, Bear MF Journal: J Physiol Idursulfase for the treatment of mucopolysaccharidosis II. Authors: Clarke LA Journal: Expert Opin Pharmacother Living with genetic risk: effect on adolescent self-concept. Authors: McConkie-Rosell A, Spiridigliozzi GA, Melvin E, Dawson DV, Lachiewicz AM Journal: Am J Med Genet C Semin Med Genet XLMR genes: update 2007. Authors: Chiurazzi P, Schwartz CE, Gecz J, Neri G Journal: Eur J Hum Genet Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Authors: Amiri K, Hagerman RJ, Hagerman PJ Journal: Arch Neurol Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Authors: Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K Journal: Clin Genet Finding new etiologies of mental retardation and hypotonia: X marks the spot. Authors: Rogers RC, Stevenson RE, Simensen RJ, Holden KR, Schwartz CE Journal: Dev Med Child Neurol X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. Authors: Xinhua Bao , Shengling Jiang , Fuying Song , Hong Pan , Meirong Li , Wu XR Journal: J Child Neurol A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome. Authors: Thyagarajan B, Bower M, Berger M, Jones S, Dolan M, Wang X Journal: Arch Pathol Lab Med Idursulfase in Hunter syndrome treatment. Authors: Zareba G Journal: Drugs Today (Barc) Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Authors: Wong VC, Li SY Journal: J Child Neurol Rett syndrome: North American database. Authors: Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P Journal: J Child Neurol Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome. Authors: Hall SS, Lightbody AA, Reiss AL Journal: Am J Ment Retard Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Authors: Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA, Ficicioglu C, Hertecant J, Patel MS, Kerr DS Journal: Mol Genet Metab Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations. Authors: Wolf CM, Arad M, Ahmad F, Sanbe A, Bernstein SA, Toka O, Konno T, Morley G, Robbins J, Seidman JG, Seidman CE, Berul CI Journal: Circulation [Knowledge, association capacity and drowsiness] Authors: Holmøy T Journal: Tidsskr Nor Laegeforen [A man with progressive spastic paraparesis] Authors: Sanaker PS, Lindland S, Rekeland F, Bindoff LA Journal: Tidsskr Nor Laegeforen In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. Authors: Piazzon N, Rage F, Schlotter F, Moine H, Branlant C, Massenet S Journal: J Biol Chem Correction of fragile X syndrome in mice. Authors: Dölen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF Journal: Neuron Disturbances of breathing in Rett syndrome: results from patients and animal models. Authors: Stettner GM, Huppke P, Gärtner J, Richter DW, Dutschmann M Journal: Adv Exp Med Biol A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a japanese family. Authors: Takano K, Nakagawa E, Inoue K, Kamada F, Kure S, Goto YI, Journal: Am J Med Genet B Neuropsychiatr Genet Newborn screening for adrenoleukodystrophy: implications for therapy. Authors: Raymond GV, Jones RO, Moser AB Journal: Mol Diagn Ther Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion. Authors: Nolin SL, Ding XH, Houck GE, Brown WT, Dobkin C Journal: Am J Med Genet A Acquired variant of Rett's disorder and response to lamotrigine. Authors: Mendhekar DN, Duggal HS Journal: J Neuropsychiatry Clin Neurosci Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation. Authors: Turner G, Boyle J, Partington MW, Kerr B, Raymond FL, Gécz J Journal: Clin Genet Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Authors: Torres RJ, Puig JG Journal: Orphanet J Rare Dis Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. Authors: Carter JC, Lanham DC, Pham D, Bibat G, Naidu S, Kaufmann WE Journal: AJNR Am J Neuroradiol Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Authors: Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E Journal: Epilepsy Behav The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability. Authors: Zhang L, He J, Jugloff DG, Eubanks JH Journal: Hippocampus Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Authors: Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV Journal: Neuropediatrics FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Authors: Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ Journal: Neurology A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. Authors: Loesch DZ, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater HR, Storey E Journal: J Med Genet X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. Authors: Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M Journal: BMC Genomics Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Authors: Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, Lasalle JM Journal: Proc Natl Acad Sci U S A [Fragile X premutation presenting as postural tremor and ataxia (FXTAS syndrome)] Authors: Davous P, Juntas Morales R, Dupel-Pottier C, Bertolle E Journal: Rev Neurol (Paris) Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. Authors: Medrihan L, Tantalaki E, Aramuni G, Sargsyan V, Dudanova I, Missler M, Zhang W Journal: J Neurophysiol Feeding experiences and growth status in a Rett syndrome population. Authors: Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young D, Anderson AM, Leonard H Journal: J Pediatr Gastroenterol Nutr Increasing exotropia and decreasing vision in a school-aged boy. Authors: Lee AG, Olson RJ, Bonthius DJ, Phillips PH Journal: Surv Ophthalmol Effect of inspired oxygen on periodic breathing in methy-CpG-binding protein 2 (Mecp2) deficient mice. Authors: Bissonnette JM, Knopp SJ Journal: J Appl Physiol Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from Fragile X mental retardation 1-deficient mice, a pathological model for Fragile X syndrome. Authors: el Bekay R, Romero-Zerbo Y, Decara J, Sanchez-Salido L, Del Arco-Herrera I, Rodríguez-de Fonseca F, de Diego-Otero Y Journal: Eur J Neurosci Danon disease due to a novel splice mutation in the LAMP2 gene. Authors: Nadeau A, Therrien C, Karpati G, Sinnreich M Journal: Muscle Nerve A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA. Authors: Dahl C, Guldberg P Journal: Nucleic Acids Res Triple repeat diseases and unstable gonadal function. Authors: McDonough PG Journal: Fertil Steril [Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy] Authors: Grkovi? S, Dordevi? M, Nikoli? R, Zivancevi?-Simonovi? S, Puziga?a Z Journal: Med Pregl Menkes disease. Authors: Bertini I, Rosato A Journal: Cell Mol Life Sci Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Authors: Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T Journal: Proc Natl Acad Sci U S A Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis. Authors: Turetsky T, Aizenman E, Gil Y, Weinberg N, Shufaro Y, Revel A, Laufer N, Simon A, Abeliovich D, Reubinoff BE Journal: Hum Reprod The story of Rett syndrome: from clinic to neurobiology. Authors: Chahrour M, Zoghbi HY Journal: Neuron [From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect] Authors: Aldenhoven M, Klomp LW, van Hasselt PM, de Koning TJ, Visser G Journal: Ned Tijdschr Geneeskd MECP2 mutations in Serbian Rett syndrome patients. Authors: Djarmati A, Dobrici? V, Kecmanovi? M, Marsh P, Janci?-Stefanovi? J, Klein C, Djuri? M, Romac S Journal: Acta Neurol Scand

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