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Journal Abstract Search

169 related items for PubMed ID: 28181389

  • 1. Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
    Sheth J, Ranjan G, Shah K, Bhavsar R, Sheth F.
    Am J Med Genet A; 2017 Apr; 173(4):1041-1046. PubMed ID: 28181389
    [Abstract] [Full Text] [Related]

  • 2. Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.
    Chen CH, Huang YS, Fang TH.
    Biomed J; 2021 Dec; 44(6):748-751. PubMed ID: 34450347
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  • 5. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
    Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.
    J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
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  • 6. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
    Al-Amri A, Saegh AA, Al-Mamari W, El-Asrag ME, Ivorra JL, Cardno AG, Inglehearn CF, Clapcote SJ, Ali M.
    Am J Med Genet A; 2016 Jul; 170(7):1826-31. PubMed ID: 27148795
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  • 7. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.
    Eur J Med Genet; 2020 May; 63(5):103853. PubMed ID: 31978613
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  • 8. A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
    Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P.
    Neurogenetics; 2023 Oct; 24(4):251-262. PubMed ID: 37525067
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  • 9. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
    Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S.
    J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
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  • 10. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
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  • 11. 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; 52(2):123-7. PubMed ID: 25527630
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  • 12. ELP2 is a novel gene implicated in neurodevelopmental disabilities.
    Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A.
    Am J Med Genet A; 2015 Jun; 167(6):1391-5. PubMed ID: 25847581
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  • 13. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
    Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC.
    Am J Med Genet A; 2017 Aug; 173(8):2246-2250. PubMed ID: 28574218
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  • 14. Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.
    Vasli N, Ahmed I, Mittal K, Ohadi M, Mikhailov A, Rafiq MA, Bhatti A, Carter MT, Andrade DM, Ayub M, Vincent JB, John P.
    Psychiatr Genet; 2016 Apr; 26(2):66-73. PubMed ID: 26529358
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  • 15. The PTRHD1 Mutation in Intellectual Disability.
    Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R.
    Arch Iran Med; 2021 Oct 01; 24(10):747-751. PubMed ID: 34816696
    [Abstract] [Full Text] [Related]

  • 16. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.
    PLoS One; 2014 Oct 01; 9(11):e112687. PubMed ID: 25405613
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  • 17. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C, Jackson M, Grinton B, Berkovic SF, Scheffer IE, Huskins S, Thomas A, Ware T.
    Am J Med Genet A; 2019 Aug 01; 179(8):1483-1490. PubMed ID: 31145546
    [Abstract] [Full Text] [Related]

  • 18. LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
    Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T.
    Neurol Genet; 2020 Oct 01; 6(5):e500. PubMed ID: 32802957
    [Abstract] [Full Text] [Related]

  • 19. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
    Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
    Am J Med Genet A; 2015 Jun 01; 167(6):1349-53. PubMed ID: 25900396
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  • 20. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.
    Am J Med Genet A; 2015 Jun 01; 167(6):1342-8. PubMed ID: 25900314
    [Abstract] [Full Text] [Related]

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