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    Results: 1 to 20 of 214

    1.

    New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

    de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL.

    J Med Genet. 2008 Aug;45(8):539-43. Epub 2008 Jun 11.PMID: 18550699 [PubMed - indexed for MEDLINE]Related articles

    2.

    A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

    Becerra-Solano LE, Butler J, Castañeda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sánchez-Corona J, García-Ortiz JE.

    Am J Med Genet A. 2009 Mar;149A(3):328-35.PMID: 19206178 [PubMed - indexed for MEDLINE]Related articles

    3.

    X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

    Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE.

    Eur J Hum Genet. 2003 Dec;11(12):937-44.PMID: 14508504 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

    Troester MM, Trachtenberg T, Narayanan V.

    J Child Neurol. 2007 Jun;22(6):744-8.PMID: 17641262 [PubMed - indexed for MEDLINE]Related articles

    5.

    Spermine synthase.

    Pegg AE, Michael AJ.

    Cell Mol Life Sci. 2009 Oct 27. [Epub ahead of print]PMID: 19859664 [PubMed - as supplied by publisher]Related articles

    6.

    A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

    Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G.

    J Med Genet. 2003 Jan;40(1):11-7.PMID: 12525535 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

    Gedeon AK, Nelson J, Gécz J, Mulley JC.

    Am J Med Genet A. 2003 Aug 1;120A(4):509-17.PMID: 12884430 [PubMed - indexed for MEDLINE]Related articles

    8.

    Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.

    Rujirabanjerd S, Tongsippunyoo K, Sripo T, Limprasert P.

    Eur J Med Genet. 2007 Sep-Oct;50(5):346-54. Epub 2007 May 27.PMID: 17613295 [PubMed - indexed for MEDLINE]Related articles

    9.

    Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

    Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE.

    J Med Genet. 2006 Jun;43(6):e30.PMID: 16740914 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

    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.

    Am J Hum Genet. 2008 Apr;82(4):1003-10. Epub 2008 Mar 13.PMID: 18342287 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

    Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR.

    Hum Mutat. 2006 Apr;27(4):389.PMID: 16541399 [PubMed - indexed for MEDLINE]Related articles

    12.

    A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

    Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH.

    Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.PMID: 16783569 [PubMed - indexed for MEDLINE]Related articles

    13.

    Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

    Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L.

    Am J Hum Genet. 2008 May;82(5):1150-7. Epub 2008 May 1.PMID: 18455129 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.

    Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ.

    J Child Neurol. 2009 May;24(5):610-4. Epub 2009 Mar 4.PMID: 19264739 [PubMed - indexed for MEDLINE]Related articles

    15.

    A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

    Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G.

    Am J Med Genet A. 2006 Mar 1;140(5):482-7.PMID: 16470793 [PubMed - indexed for MEDLINE]Related articles

    16.

    UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

    Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.

    Am J Hum Genet. 2006 Sep;79(3):549-55. Epub 2006 Jul 3.PMID: 16909393 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    The impact of spermine synthase (SMS) mutations on brain morphology.

    Kesler SR, Schwartz C, Stevenson RE, Reiss AL.

    Neurogenetics. 2009 Oct;10(4):299-305. Epub 2009 Mar 7.PMID: 19277733 [PubMed - in process]Related articles

    18.

    A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

    Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G.

    Hum Mol Genet. 2005 Apr 15;14(8):1019-27. Epub 2005 Mar 3.PMID: 15746149 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    A novel splicing mutation of the ATRX gene in ATR-X syndrome.

    Wada T, Sakakibara M, Fukushima Y, Saitoh S.

    Brain Dev. 2006 Jun;28(5):322-5. Epub 2006 Jan 10.PMID: 16376512 [PubMed - indexed for MEDLINE]Related articles

    20.

    Shashi XLMR syndrome: report of a second family.

    Castro NH, dos Santos RC, Nelson R, Beçak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE.

    Am J Med Genet A. 2003 Apr 1;118A(1):49-51.PMID: 12605440 [PubMed - indexed for MEDLINE]Related articles

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