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Journal Abstract Search

169 related items for PubMed ID: 21218045

  • 1. The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.
    Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK.
    J Korean Med Sci; 2011 Jan; 26(1):146-9. PubMed ID: 21218045
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.
    Al-Nafie AN, Borgio JF, AbdulAzeez S, Al-Suliman AM, Qaw FS, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Ali RA, AlKhalifah MA, Al-Muhanna F, Steinberg MH, Al-Ali AK.
    Blood Cells Mol Dis; 2015 Jun; 55(1):27-9. PubMed ID: 25976463
    [Abstract] [Full Text] [Related]

  • 4. Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.
    Wang Y, Ma Q, Chen J, Li S, Zheng F, Shi L, Li X, Li S, Tong G, Li H.
    BMC Pediatr; 2024 Oct 03; 24(1):631. PubMed ID: 39363269
    [Abstract] [Full Text] [Related]

  • 5. [Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].
    Dong R, Yang Y, Guo H, Gao M, Lyu Y, Li Y, Yang X, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec 10; 40(12):1508-1511. PubMed ID: 37994132
    [Abstract] [Full Text] [Related]

  • 6. α-Thalassemia, mental retardation, and myelodysplastic syndrome.
    Gibbons RJ.
    Cold Spring Harb Perspect Med; 2012 Oct 01; 2(10):. PubMed ID: 23028133
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 173(5):1390-1395. PubMed ID: 28371217
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 59(7):408-10. PubMed ID: 24898829
    [Abstract] [Full Text] [Related]

  • 9. A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.
    Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F.
    Ir J Med Sci; 2017 May 01; 186(2):333-337. PubMed ID: 26860117
    [Abstract] [Full Text] [Related]

  • 10. [Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
    Szczałuba K, Obersztyn E, Nowakowska B, Bernaciak J, Fisher C, Gibbons R, Mazurczak T, Bocian E.
    Med Wieku Rozwoj; 2011 May 01; 15(4):437-44. PubMed ID: 22516698
    [Abstract] [Full Text] [Related]

  • 11. Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
    Aiello S, Mancardi MM, Romano A, Santucci M, Scaduto MC, Vari MS, Striano P, Operto FF, Elia M, Vitiello G, Del Giudice E, Terrone G.
    Eur J Paediatr Neurol; 2022 Sep 01; 40():69-72. PubMed ID: 36031702
    [Abstract] [Full Text] [Related]

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  • 14. [X-linked alpha-thalassemia/mental retardation syndrome].
    Wada T.
    Rinsho Byori; 2009 Apr 01; 57(4):382-90. PubMed ID: 19489441
    [Abstract] [Full Text] [Related]

  • 15. Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
    Giacomini T, Vari MS, Janis S, Prato G, Pisciotta L, Rocchi A, Michelucci A, Di Rocco M, Gandullia P, Mattioli G, Sacco O, Morana G, Mancardi MM.
    Neuropediatrics; 2019 Oct 01; 50(5):327-331. PubMed ID: 31319423
    [Abstract] [Full Text] [Related]

  • 16. Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
    Wada T, Kubota T, Fukushima Y, Saitoh S.
    Am J Med Genet; 2000 Sep 18; 94(3):242-8. PubMed ID: 10995512
    [Abstract] [Full Text] [Related]

  • 17. ATR-X syndrome: genetics, clinical spectrum, and management.
    León NY, Harley VR.
    Hum Genet; 2021 Dec 18; 140(12):1625-1634. PubMed ID: 34524523
    [Abstract] [Full Text] [Related]

  • 18. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
    Wada T, Sugie H, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2005 Sep 15; 138(1):18-20. PubMed ID: 16100724
    [Abstract] [Full Text] [Related]

  • 19. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
    Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B.
    Epigenetics Chromatin; 2017 Sep 15; 10():10. PubMed ID: 28293299
    [Abstract] [Full Text] [Related]

  • 20. [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
    Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.
    Arch Pediatr; 2005 Sep 15; 12(9):1372-5. PubMed ID: 16125058
    [Abstract] [Full Text] [Related]

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