BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 24289169)

  • 1. Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
    Lacoste C; Leheup B; Agouti I; Mowat D; Giuliano F; Badens C
    Clin Genet; 2014 Nov; 86(5):502-3. PubMed ID: 24289169
    [No Abstract]   [Full Text] [Related]  

  • 2. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.
    Lee JS; Lee S; Lim BC; Kim KJ; Hwang YS; Choi M; Chae JH
    Gene; 2015 Sep; 569(2):318-22. PubMed ID: 25936994
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
    Badens C; Lacoste C; Philip N; Martini N; Courrier S; Giuliano F; Verloes A; Munnich A; Leheup B; Burglen L; Odent S; Van Esch H; Levy N
    Clin Genet; 2006 Jul; 70(1):57-62. PubMed ID: 16813605
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. Functional significance of mutations in the Snf2 domain of ATRX.
    Mitson M; Kelley LA; Sternberg MJ; Higgs DR; Gibbons RJ
    Hum Mol Genet; 2011 Jul; 20(13):2603-10. PubMed ID: 21505078
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.
    Villard L; Lossi AM; Cardoso C; Proud V; Chiaroni P; Colleaux L; Schwartz C; Fontés M
    Genomics; 1997 Jul; 43(2):149-55. PubMed ID: 9244431
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 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. A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome.
    Nelson ME; Thurmes PJ; Hoyer JD; Steensma DP
    Haematologica; 2005 Nov; 90(11):1463-70. PubMed ID: 16266892
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel splicing mutation of the ATRX gene in ATR-X syndrome.
    Wada T; Sakakibara M; Fukushima Y; Saitoh S
    Brain Dev; 2006 Jun; 28(5):322-5. PubMed ID: 16376512
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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]  

  • 18. A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.
    Herbaux C; Badens C; Guidez S; Lacoste C; Maboudou P; Rose C
    Hemoglobin; 2012; 36(6):581-5. PubMed ID: 23092150
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

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

    [Next]    [New Search]
    of 9.