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Journal Abstract Search

125 related items for PubMed ID: 36140801

  • 1.
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  • 2. Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
    Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, Shabbir MI, Vincent JB.
    Sci Rep; 2024 Apr 22; 14(1):9230. PubMed ID: 38649688
    [Abstract] [Full Text] [Related]

  • 3. Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.
    Dhaliwal J, Qiao Y, Calli K, Martell S, Race S, Chijiwa C, Glodjo A, Jones S, Rajcan-Separovic E, Scherer SW, Lewis S.
    Genes (Basel); 2021 Jul 08; 12(7):. PubMed ID: 34356069
    [Abstract] [Full Text] [Related]

  • 4. Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
    Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N.
    Sci Rep; 2017 Jul 18; 7(1):5679. PubMed ID: 28720891
    [Abstract] [Full Text] [Related]

  • 5. Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
    Wang L, Zhang Y, Li K, Wang Z, Wang X, Li B, Zhao G, Fang Z, Ling Z, Luo T, Xia L, Li Y, Guo H, Hu Z, Li J, Sun Z, Xia K.
    Mol Autism; 2020 Oct 06; 11(1):75. PubMed ID: 33023636
    [Abstract] [Full Text] [Related]

  • 6. Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
    Nettuwakul C, Praditsap O, Sawasdee N, Rungroj N, Ruamyod K, Watanapa WB, Junking M, Sangnual S, Sritippayawan S, Cheunsuchon B, Chuawattana D, Rojsatapong S, Chaowagul W, Dib-Hajj SD, Waxman SG, Yenchitsomanus PT.
    Sci Rep; 2018 Jul 11; 8(1):10453. PubMed ID: 29992996
    [Abstract] [Full Text] [Related]

  • 7. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.
    Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B, Toma C.
    J Psychiatry Neurosci; 2019 Sep 01; 44(5):350-359. PubMed ID: 31094488
    [Abstract] [Full Text] [Related]

  • 8. Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
    Rubinstein M, Patowary A, Stanaway IB, McCord E, Nesbitt RR, Archer M, Scheuer T, Nickerson D, Raskind WH, Wijsman EM, Bernier R, Catterall WA, Brkanac Z.
    Mol Psychiatry; 2018 Feb 01; 23(2):231-239. PubMed ID: 27956748
    [Abstract] [Full Text] [Related]

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  • 12. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
    Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D.
    Epilepsia; 2020 Mar 01; 61(3):387-399. PubMed ID: 32090326
    [Abstract] [Full Text] [Related]

  • 13. Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
    Chang YS, Lin CY, Huang HY, Chang JG, Kuo HT.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e996. PubMed ID: 31595719
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
    Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J, Buch T, Betzenhauser MJ, Belardinelli L, Kahlig KM, Rajamani S, DeAntonio HJ, Myerburg RJ, Ito H, Deshmukh P, Marieb M, Nam GB, Bhatia A, Hasdemir C, Haïssaguerre M, Veltmann C, Schimpf R, Borggrefe M, Viskin S, Antzelevitch C.
    J Am Coll Cardiol; 2014 Jul 08; 64(1):66-79. PubMed ID: 24998131
    [Abstract] [Full Text] [Related]

  • 16. Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
    Li SJ, Yu SS, Luo HY, Li X, Rao B, Wang Y, Li ZZ, Liu G, Zou LP, Zhang JS, Feng C, Liu J, Liu JW, Hu N, Chen XQ, Yu SY, Li K, He MW, Yu XG, Wang J, Guo SL, Chen ZY, Zhang L, Ma L.
    Clin Chim Acta; 2018 Apr 08; 479():144-147. PubMed ID: 29366832
    [Abstract] [Full Text] [Related]

  • 17. Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
    Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu AY, Hudson M, Mcaughton AJM, Xu Y, Dionne-Laporte A, Girard S, Liang P, Separovic ER, Liu X, Rouleau G, Pavlidis P, Lewis MES.
    Clin Genet; 2019 Sep 08; 96(3):199-206. PubMed ID: 31038196
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  • 19. SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.
    Savio-Galimberti E, Weeke P, Muhammad R, Blair M, Ansari S, Short L, Atack TC, Kor K, Vanoye CG, Olesen MS, LuCamp, Yang T, George AL, Roden DM, Darbar D.
    Cardiovasc Res; 2014 Nov 01; 104(2):355-63. PubMed ID: 25053638
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