BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 16100724)

  • 1. 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; 138(1):18-20. PubMed ID: 16100724
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
    Badens C; Martini N; Courrier S; DesPortes V; Touraine R; Levy N; Edery P
    Am J Med Genet A; 2006 Oct; 140(20):2212-5. PubMed ID: 16955409
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. 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; 140(14):1519-23. PubMed ID: 16763962
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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; 12(9):1372-5. PubMed ID: 16125058
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Partial duplications of the ATRX gene cause the ATR-X syndrome.
    Thienpont B; de Ravel T; Van Esch H; Van Schoubroeck D; Moerman P; Vermeesch JR; Fryns JP; Froyen G; Lacoste C; Badens C; Devriendt K
    Eur J Hum Genet; 2007 Oct; 15(10):1094-7. PubMed ID: 17579672
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
    Muers MR; Sharpe JA; Garrick D; Sloane-Stanley J; Nolan PM; Hacker T; Wood WG; Higgs DR; Gibbons RJ
    Am J Hum Genet; 2007 Jun; 80(6):1138-49. PubMed ID: 17503331
    [TBL] [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; 186(2):333-337. PubMed ID: 26860117
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Partial ATRX gene duplication causes ATR-X syndrome.
    Cohn DM; Pagon RA; Hudgins L; Schwartz CE; Stevenson RE; Friez MJ
    Am J Med Genet A; 2009 Oct; 149A(10):2317-20. PubMed ID: 19764021
    [No Abstract]   [Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.
    Bagheri-Fam S; Argentaro A; Svingen T; Combes AN; Sinclair AH; Koopman P; Harley VR
    Hum Mol Genet; 2011 Jun; 20(11):2213-24. PubMed ID: 21427128
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 94(3):242-8. PubMed ID: 10995512
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].
    Lin SB; Sun HY; Song XM; Chen LM; Du ML; Chen Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec; 30(6):654-8. PubMed ID: 24327140
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Alpha thalassaemia-mental retardation, X linked.
    Gibbons R
    Orphanet J Rare Dis; 2006 May; 1():15. PubMed ID: 16722615
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.