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Journal Abstract Search

151 related items for PubMed ID: 33086257

  • 1. A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.
    Pelle A, Pezzoli L, Apuril E, Iascone M, Selicorni A.
    Clin Dysmorphol; 2021 Jan; 30(1):39-43. PubMed ID: 33086257
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  • 2. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
    van Rij MC, Hollink IHIM, Terhal PA, Kant SG, Ruivenkamp C, van Haeringen A, Kievit JA, van Belzen MJ.
    Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085
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  • 3. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
    Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z.
    Am J Med Genet A; 2013 Sep; 161A(9):2358-62. PubMed ID: 23894085
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  • 4. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
    Schäfgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiß M, Aretz S, Strom TM, Wieczorek D, Engels H.
    Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
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  • 8. Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
    Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW.
    Mol Genet Genomic Med; 2022 Mar; 10(3):e1825. PubMed ID: 35156329
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  • 9. [X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion].
    Arroyo-Carrera I, Romero-Peguero R, Martín-Fernández R, Ramajo-Polo A, García-Navas Núñez V.
    Rev Neurol; 2024 Jun 01; 78(11):323-326. PubMed ID: 38813790
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  • 11. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
    Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M.
    Hum Mutat; 2020 May 01; 41(5):1042-1050. PubMed ID: 32097528
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  • 12. 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.
    Caselli R, Ballarati L, Vignoli A, Peron A, Recalcati MP, Catusi I, Larizza L, Giardino D.
    Eur J Med Genet; 2015 Nov 01; 58(11):578-83. PubMed ID: 26297194
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  • 13. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
    Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D, Lynch SA, Saggar A, Searle C, Scurr I, Turnpenny PD, Vasudevan P, Tatton-Brown K.
    Am J Med Genet A; 2021 Aug 01; 185(8):2445-2454. PubMed ID: 34032352
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  • 15. Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
    Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW.
    Mol Autism; 2017 Aug 01; 8():59. PubMed ID: 29152164
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  • 19. Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
    Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K.
    Am J Med Genet C Semin Med Genet; 2019 Dec 01; 181(4):638-643. PubMed ID: 31714006
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  • 20. Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
    Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K.
    Congenit Anom (Kyoto); 2018 Nov 01; 58(6):188-190. PubMed ID: 29381230
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