These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 12032728)

  • 1. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
    Villard L; Fontes M
    Eur J Hum Genet; 2002 Apr; 10(4):223-5. PubMed ID: 12032728
    [No Abstract]   [Full Text] [Related]  

  • 2. Molecular-clinical spectrum of the ATR-X syndrome.
    Gibbons RJ; Higgs DR
    Am J Med Genet; 2000; 97(3):204-12. PubMed ID: 11449489
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. XNP mutation in a large family with Juberg-Marsidi syndrome.
    Villard L; Gecz J; Mattéi JF; Fontés M; Saugier-Veber P; Munnich A; Lyonnet S
    Nat Genet; 1996 Apr; 12(4):359-60. PubMed ID: 8630485
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.
    Fichera M; Silengo M; Spalletta A; Giudice ML; Romano C; Ragusa A
    Prenat Diagn; 2001 Sep; 21(9):747-51. PubMed ID: 11559911
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
    Villard L; Toutain A; Lossi AM; Gecz J; Houdayer C; Moraine C; Fontès M
    Am J Hum Genet; 1996 Mar; 58(3):499-505. PubMed ID: 8644709
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.
    Fichera M; Romano C; Castiglia L; Failla P; Ruberto C; Amata S; Greco D; Cardoso C; Fontés M; Ragusa A
    Hum Mutat; 1998; 12(3):214. PubMed ID: 10660327
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
    Villard L; Lacombe D; Fontés M
    Eur J Hum Genet; 1996; 4(6):316-20. PubMed ID: 9043863
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
    Gibbons RJ; Picketts DJ; Villard L; Higgs DR
    Cell; 1995 Mar; 80(6):837-45. PubMed ID: 7697714
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
    Cardoso C; Lutz Y; Mignon C; Compe E; Depetris D; Mattei MG; Fontes M; Colleaux L
    J Med Genet; 2000 Oct; 37(10):746-51. PubMed ID: 11015451
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo and acquired forms of alpha thalassemia.
    Forget BG
    Curr Hematol Rep; 2006 Mar; 5(1):11-4. PubMed ID: 16537041
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
    Gibbons RJ; Bachoo S; Picketts DJ; Aftimos S; Asenbauer B; Bergoffen J; Berry SA; Dahl N; Fryer A; Keppler K; Kurosawa K; Levin ML; Masuno M; Neri G; Pierpont ME; Slaney SF; Higgs DR
    Nat Genet; 1997 Oct; 17(2):146-8. PubMed ID: 9326931
    [No Abstract]   [Full Text] [Related]  

  • 15. Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
    Stevenson RE; Abidi F; Schwartz CE; Lubs HA; Holmes LB
    Am J Med Genet; 2000 Oct; 94(5):383-5. PubMed ID: 11050622
    [No Abstract]   [Full Text] [Related]  

  • 16. Expanding phenotype of XNP mutations: mild to moderate mental retardation.
    Yntema HG; Poppelaars FA; Derksen E; Oudakker AR; van Roosmalen T; Jacobs A; Obbema H; Brunner HG; Hamel BC; van Bokhoven H
    Am J Med Genet; 2002 Jul; 110(3):243-7. PubMed ID: 12116232
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
    Gibbons RJ; McDowell TL; Raman S; O'Rourke DM; Garrick D; Ayyub H; Higgs DR
    Nat Genet; 2000 Apr; 24(4):368-71. PubMed ID: 10742099
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
    Ion A; Telvi L; Chaussain JL; Galacteros F; Valayer J; Fellous M; McElreavey K
    Am J Hum Genet; 1996 Jun; 58(6):1185-91. PubMed ID: 8651295
    [TBL] [Abstract][Full Text] [Related]  

  • 19. XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans.
    Cardoso C; Couillault C; Mignon-Ravix C; Millet A; Ewbank JJ; Fontés M; Pujol N
    Dev Biol; 2005 Feb; 278(1):49-59. PubMed ID: 15649460
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
    Picketts DJ; Higgs DR; Bachoo S; Blake DJ; Quarrell OW; Gibbons RJ
    Hum Mol Genet; 1996 Dec; 5(12):1899-907. PubMed ID: 8968741
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.