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Journal Abstract Search

281 related items for PubMed ID: 28371217

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  • 2. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
    Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.
    Indian J Med Res; 2016 Jan; 143(1):43-8. PubMed ID: 26997013
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  • 6. Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.
    López-Garrido MP, Carrascosa-Romero MC, Montero-Hernández M, Ruiz-Almansa J, Sánchez-Sánchez F.
    J Autism Dev Disord; 2024 Jan; 54(1):379-388. PubMed ID: 35593993
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  • 8. ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
    Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC.
    Indian J Med Res; 2011 Oct; 134(4):483-6. PubMed ID: 22089611
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  • 9. ATR-X syndrome: genetics, clinical spectrum, and management.
    León NY, Harley VR.
    Hum Genet; 2021 Dec; 140(12):1625-1634. PubMed ID: 34524523
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  • 11. A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.
    Altıner Ş, Raymond L.
    Fetal Pediatr Pathol; 2020 Dec; 39(6):539-543. PubMed ID: 31608750
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  • 13. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
    Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.
    Clin Genet; 2015 May; 87(5):461-6. PubMed ID: 24805811
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  • 14. A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
    Shimbo H, Ninomiya S, Kurosawa K, Wada T.
    J Hum Genet; 2014 Jul; 59(7):408-10. PubMed ID: 24898829
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  • 18. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
    Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C.
    Am J Med Genet A; 2014 Apr; 164A(4):918-23. PubMed ID: 24458433
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  • 19. Mutations in the chromatin-associated protein ATRX.
    Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J.
    Hum Mutat; 2008 Jun; 29(6):796-802. PubMed ID: 18409179
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