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Journal Abstract Search

561 related items for PubMed ID: 26308914

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  • 2. An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.
    Zhang K, Lentini JM, Prevost CT, Hashem MO, Alkuraya FS, Fu D.
    Hum Mutat; 2020 Mar; 41(3):600-607. PubMed ID: 31898845
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  • 4. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
    Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.
    Acta Neuropsychiatr; 2015 Feb; 27(1):38-47. PubMed ID: 25434728
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  • 5. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
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  • 6. Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.
    Protasova MS, Andreeva TV, Klyushnikov SA, Illarioshkin SN, Rogaev EI.
    Int J Mol Sci; 2023 Jan 12; 24(2):. PubMed ID: 36675067
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  • 7. Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
    Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K.
    Arch Iran Med; 2015 Oct 12; 18(10):670-82. PubMed ID: 26443249
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  • 10. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
    Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.
    Mol Psychiatry; 2016 Aug 12; 21(8):1125-9. PubMed ID: 26416544
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  • 11. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
    Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS.
    J Med Genet; 2013 Jul 12; 50(7):425-30. PubMed ID: 23620220
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  • 12. Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability.
    Ataei R, Khoshbakht S, Beheshtian M, Abedini SS, Behravan H, Esmaeili Dizghandi S, Godratpour F, Mirzaei S, Bahrami F, Akbari M, Keshavarzi F, Kahrizi K, Najmabadi H.
    Arch Iran Med; 2019 Aug 01; 22(8):461-471. PubMed ID: 31679349
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  • 13. Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
    Cesaroni CA, Pisanò G, Trimarchi G, Caraffi SG, Scandolo G, Gnazzo M, Frattini D, Spagnoli C, Rizzi S, Dittadi C, Sigona G, Garavelli L, Fusco C.
    Cerebellum; 2024 Oct 01; 23(5):1768-1771. PubMed ID: 37831383
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  • 14. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
    Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.
    J Med Genet; 2015 Feb 01; 52(2):123-7. PubMed ID: 25527630
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  • 15. Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
    Blaesius K, Abbasi AA, Tahir TH, Tietze A, Picker-Minh S, Ali G, Farooq S, Hu H, Latif Z, Khan MN, Kaindl A.
    Am J Med Genet A; 2018 Nov 01; 176(11):2517-2521. PubMed ID: 30289604
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  • 19. A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
    Komara M, Al-Shamsi AM, Ben-Salem S, Ali BR, Al-Gazali L.
    J Mol Neurosci; 2015 Nov 01; 57(3):393-9. PubMed ID: 26055038
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  • 20. Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
    Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M.
    J Hum Genet; 2016 Oct 01; 61(10):867-872. PubMed ID: 27305979
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