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Journal Abstract Search

201 related items for PubMed ID: 10502778

  • 1. Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
    Banerjee-Basu S, Baxevanis AD.
    Hum Mutat; 1999; 14(4):312-9. PubMed ID: 10502778
    [Abstract] [Full Text] [Related]

  • 2. Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome.
    Chaney BA, Clark-Baldwin K, Dave V, Ma J, Rance M.
    Biochemistry; 2005 May 24; 44(20):7497-511. PubMed ID: 15895993
    [Abstract] [Full Text] [Related]

  • 3. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
    Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.
    Mol Vis; 2006 Dec 01; 12():1448-60. PubMed ID: 17167399
    [Abstract] [Full Text] [Related]

  • 4. Threading analysis of prospero-type homeodomains.
    Banerjee-Basu S, Landsman D, Baxevanis AD.
    In Silico Biol; 1999 Dec 01; 1(3):163-73. PubMed ID: 11471237
    [Abstract] [Full Text] [Related]

  • 5. Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.
    Footz T, Idrees F, Acharya M, Kozlowski K, Walter MA.
    Invest Ophthalmol Vis Sci; 2009 Jun 01; 50(6):2599-606. PubMed ID: 19218601
    [Abstract] [Full Text] [Related]

  • 6. The Pitx2 protein in mouse development.
    Hjalt TA, Semina EV, Amendt BA, Murray JC.
    Dev Dyn; 2000 May 01; 218(1):195-200. PubMed ID: 10822271
    [Abstract] [Full Text] [Related]

  • 7. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.
    Lu MF, Pressman C, Dyer R, Johnson RL, Martin JF.
    Nature; 1999 Sep 16; 401(6750):276-8. PubMed ID: 10499585
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
    Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.
    Invest Ophthalmol Vis Sci; 2006 Sep 16; 47(9):3846-52. PubMed ID: 16936096
    [Abstract] [Full Text] [Related]

  • 9. Genetic dissection of Pitx2 in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration.
    Liu W, Selever J, Lu MF, Martin JF.
    Development; 2003 Dec 16; 130(25):6375-85. PubMed ID: 14623826
    [Abstract] [Full Text] [Related]

  • 10. Structural effect of the L16Q, K50E, and R53P mutations on homeodomain of pituitary homeobox protein 2.
    Rajasekaran M, Chen C.
    Int J Biol Macromol; 2012 Oct 16; 51(3):305-13. PubMed ID: 22584078
    [Abstract] [Full Text] [Related]

  • 11. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
    Strungaru MH, Dinu I, Walter MA.
    Invest Ophthalmol Vis Sci; 2007 Jan 16; 48(1):228-37. PubMed ID: 17197537
    [Abstract] [Full Text] [Related]

  • 12. The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms.
    Hjalt TA, Murray JC.
    Genomics; 1999 Dec 15; 62(3):456-9. PubMed ID: 10644443
    [Abstract] [Full Text] [Related]

  • 13. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
    Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC.
    Nat Genet; 1996 Dec 15; 14(4):392-9. PubMed ID: 8944018
    [Abstract] [Full Text] [Related]

  • 14. The pitx2 homeobox protein is required early for endoderm formation and nodal signaling.
    Faucourt M, Houliston E, Besnardeau L, Kimelman D, Lepage T.
    Dev Biol; 2001 Jan 15; 229(2):287-306. PubMed ID: 11203696
    [Abstract] [Full Text] [Related]

  • 15. Cloning, characterization, localization, and mutational screening of the human BARX1 gene.
    Gould DB, Walter MA.
    Genomics; 2000 Sep 15; 68(3):336-42. PubMed ID: 10995576
    [Abstract] [Full Text] [Related]

  • 16. Exclusion of PITX2 mutations as a major cause of CHARGE association.
    Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA.
    Am J Med Genet; 2002 Jul 22; 111(1):27-30. PubMed ID: 12124729
    [Abstract] [Full Text] [Related]

  • 17. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
    de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, Zeghidi H, Rapp P, Halimi P, Vidaud M, Dufier JL, Menasche M, Abitbol M.
    BMC Med Genet; 2006 Nov 29; 7():82. PubMed ID: 17134502
    [Abstract] [Full Text] [Related]

  • 18. Current molecular understanding of Axenfeld-Rieger syndrome.
    Hjalt TA, Semina EV.
    Expert Rev Mol Med; 2005 Nov 08; 7(25):1-17. PubMed ID: 16274491
    [Abstract] [Full Text] [Related]

  • 19. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
    Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, Tümer Z.
    Clin Genet; 2007 Nov 08; 72(5):464-70. PubMed ID: 17850355
    [Abstract] [Full Text] [Related]

  • 20. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene.
    Flomen RH, Vatcheva R, Gorman PA, Baptista PR, Groet J, Barisić I, Ligutic I, Nizetić D.
    Genomics; 1998 Feb 01; 47(3):409-13. PubMed ID: 9480756
    [Abstract] [Full Text] [Related]

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