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Journal Abstract Search

157 related items for PubMed ID: 24898829

  • 1. 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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  • 2. 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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  • 8. [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
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  • 11. Alpha thalassaemia-mental retardation, X linked.
    Gibbons R.
    Orphanet J Rare Dis; 2006 May 04; 1():15. PubMed ID: 16722615
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  • 12. [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 04; 15(4):437-44. PubMed ID: 22516698
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  • 13. A novel splicing mutation of the ATRX gene in ATR-X syndrome.
    Wada T, Sakakibara M, Fukushima Y, Saitoh S.
    Brain Dev; 2006 Jun 04; 28(5):322-5. PubMed ID: 16376512
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  • 15. 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 04; 55(1):27-9. PubMed ID: 25976463
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  • 18. A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.
    Wada T, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2006 Jul 15; 140(14):1519-23. PubMed ID: 16763962
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  • 19. 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 15; 26(1):146-9. PubMed ID: 21218045
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