BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 18615476)

  • 21. Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.
    Kolevzon A; Cai G; Soorya L; Takahashi N; Grodberg D; Kajiwara Y; Willner JP; Tryfon A; Buxbaum JD
    Brain Res; 2011 Mar; 1380():98-105. PubMed ID: 21062623
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function.
    Jaramillo TC; Speed HE; Xuan Z; Reimers JM; Escamilla CO; Weaver TP; Liu S; Filonova I; Powell CM
    Autism Res; 2017 Jan; 10(1):42-65. PubMed ID: 27492494
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Autism-associated
    Bucher M; Niebling S; Han Y; Molodenskiy D; Hassani Nia F; Kreienkamp HJ; Svergun D; Kim E; Kostyukova AS; Kreutz MR; Mikhaylova M
    Elife; 2021 May; 10():. PubMed ID: 33945465
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Copy-number variations of SHANK3 and related clinical phenotypes in children with autism].
    Chen BY; Zou XB; Zhang J; Deng HZ; Li JY; Li LY; Tang C; Zou YY
    Zhonghua Er Ke Za Zhi; 2011 Aug; 49(8):607-11. PubMed ID: 22093425
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
    Bi C; Wu J; Jiang T; Liu Q; Cai W; Yu P; Cai T; Zhao M; Jiang YH; Sun ZS
    Hum Mutat; 2012 Dec; 33(12):1635-8. PubMed ID: 22865819
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autism-associated Shank3 mutations alter mGluR expression and mGluR-dependent but not NMDA receptor-dependent long-term depression.
    Lee K; Vyas Y; Garner CC; Montgomery JM
    Synapse; 2019 Aug; 73(8):e22097. PubMed ID: 30868621
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
    Mahajan A; Chavali S; Kabra M; Chowdhury MR; Bharadwaj D
    Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of two novel Shank3 transcripts in the developing mouse neocortex.
    Waga C; Asano H; Sanagi T; Suzuki E; Nakamura Y; Tsuchiya A; Itoh M; Goto Y; Kohsaka S; Uchino S
    J Neurochem; 2014 Jan; 128(2):280-93. PubMed ID: 24164323
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
    [TBL] [Abstract][Full Text] [Related]  

  • 30. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.
    Coutinho AM; Oliveira G; Katz C; Feng J; Yan J; Yang C; Marques C; Ataíde A; Miguel TS; Borges L; Almeida J; Correia C; Currais A; Bento C; Mota-Vieira L; Temudo T; Santos M; Maciel P; Sommer SS; Vicente AM
    Am J Med Genet B Neuropsychiatr Genet; 2007 Jun; 144B(4):475-83. PubMed ID: 17427193
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
    Awadalla P; Gauthier J; Myers RA; Casals F; Hamdan FF; Griffing AR; Côté M; Henrion E; Spiegelman D; Tarabeux J; Piton A; Yang Y; Boyko A; Bustamante C; Xiong L; Rapoport JL; Addington AM; DeLisi JL; Krebs MO; Joober R; Millet B; Fombonne E; Mottron L; Zilversmit M; Keebler J; Daoud H; Marineau C; Roy-Gagnon MH; Dubé MP; Eyre-Walker A; Drapeau P; Stone EA; Lafrenière RG; Rouleau GA
    Am J Hum Genet; 2010 Sep; 87(3):316-24. PubMed ID: 20797689
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.
    Daoud H; Bonnet-Brilhault F; Védrine S; Demattéi MV; Vourc'h P; Bayou N; Andres CR; Barthélémy C; Laumonnier F; Briault S
    Biol Psychiatry; 2009 Nov; 66(10):906-10. PubMed ID: 19545860
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL; Gelbart T; West C; Halloran C; Beutler E
    Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.
    Zheng F; Kasper LH; Bedford DC; Lerach S; Teubner BJ; Brindle PK
    PLoS One; 2016; 11(1):e0146366. PubMed ID: 26730956
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.
    Zhiling Y; Fujita E; Tanabe Y; Yamagata T; Momoi T; Momoi MY
    Biochem Biophys Res Commun; 2008 Dec; 377(3):926-9. PubMed ID: 18957284
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
    Ringpfeil F; Nakano A; Uitto J; Pulkkinen L
    Am J Hum Genet; 2001 Mar; 68(3):642-52. PubMed ID: 11179012
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
    Sykes NH; Toma C; Wilson N; Volpi EV; Sousa I; Pagnamenta AT; Tancredi R; Battaglia A; Maestrini E; Bailey AJ; Monaco AP;
    Eur J Hum Genet; 2009 Oct; 17(10):1347-53. PubMed ID: 19384346
    [TBL] [Abstract][Full Text] [Related]  

  • 39. SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.
    Kanani F; Study D; Balasubramanian M
    Clin Dysmorphol; 2018 Oct; 27(4):113-115. PubMed ID: 29939863
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
    Jamain S; Quach H; Betancur C; Råstam M; Colineaux C; Gillberg IC; Soderstrom H; Giros B; Leboyer M; Gillberg C; Bourgeron T;
    Nat Genet; 2003 May; 34(1):27-9. PubMed ID: 12669065
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.