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Journal Abstract Search

166 related items for PubMed ID: 25847581

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  • 22. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
    Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.
    Am J Med Genet A; 2017 May; 173(5):1390-1395. PubMed ID: 28371217
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  • 23. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
    Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B.
    Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
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  • 24. A novel variant in GABRB2 associated with intellectual disability and epilepsy.
    Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A.
    Am J Med Genet A; 2014 Nov; 164A(11):2914-21. PubMed ID: 25124326
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  • 29. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM, Bianciardi L, Mencarelli MA, Imperatore V, Di Marco C, Furini S, Suppiej A, Salviati L, Tenconi R, Ariani F, Mari F, Renieri A.
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
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  • 30. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
    Makrythanasis P, Guipponi M, Santoni FA, Zaki M, Issa MY, Ansar M, Hamamy H, Antonarakis SE.
    Hum Genomics; 2016 Jul 16; 10(1):26. PubMed ID: 27421267
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  • 31. Compound heterozygous variants in SLC45A1 might cause syndromic intellectual disability by localization failure and activity attenuation in cells.
    Zhou C, Zhu J, Tang P, Zhu J, Zhu X, Yang L, Bian W, Zhao W, Liu X.
    Clin Genet; 2024 Nov 16; 106(5):638-643. PubMed ID: 39003656
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  • 35. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
    Švantnerová J, Minár M, Radová S, Kolníková M, Vlkovič P, Zech M.
    Neuropediatrics; 2022 Oct 16; 53(5):361-365. PubMed ID: 35863334
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  • 39. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L.
    Clin Chim Acta; 2017 Jan 16; 464():24-29. PubMed ID: 27983999
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  • 40. Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
    Mattioli F, Isidor B, Abdul-Rahman O, Gunter A, Huang L, Kumar R, Beaulieu C, Gecz J, Innes M, Mandel JL, Piton A.
    Hum Mol Genet; 2019 Mar 15; 28(6):952-960. PubMed ID: 30476144
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