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Journal Abstract Search

659 related items for PubMed ID: 18331556

  • 1. Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation.
    Meyer-Marcotty P, Weisschuh N, Dressler P, Hartmann J, Stellzig-Eisenhauer A.
    J Oral Pathol Med; 2008 Sep; 37(8):504-10. PubMed ID: 18331556
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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 08; 47(9):3846-52. PubMed ID: 16936096
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Variability of the cranial and dental phenotype in Williams syndrome.
    Axelsson S.
    Swed Dent J Suppl; 2005 Nov 29; (170):3-67. PubMed ID: 15762376
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 48(1):228-37. PubMed ID: 17197537
    [Abstract] [Full Text] [Related]

  • 8. 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 29; 72(5):464-70. PubMed ID: 17850355
    [Abstract] [Full Text] [Related]

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  • 10. Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
    Komatireddy S, Chakrabarti S, Mandal AK, Reddy AB, Sampath S, Panicker SG, Balasubramanian D.
    Mol Vis; 2003 Feb 18; 9():43-8. PubMed ID: 12592227
    [Abstract] [Full Text] [Related]

  • 11. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
    Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA.
    Eur J Hum Genet; 2000 Jan 18; 8(1):71-4. PubMed ID: 10713890
    [Abstract] [Full Text] [Related]

  • 12. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
    Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC.
    Ophthalmology; 2004 Apr 18; 111(4):828-36. PubMed ID: 15051220
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  • 14. Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.
    Cella W, de Vasconcellos JP, de Melo MB, Kneipp B, Costa FF, Longui CA, Costa VP.
    Invest Ophthalmol Vis Sci; 2006 May 18; 47(5):1803-9. PubMed ID: 16638984
    [Abstract] [Full Text] [Related]

  • 15. Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
    Wang X, Liu X, Huang L, Fang S, Jia X, Xiao X, Li S, Guo X.
    Curr Eye Res; 2018 Nov 18; 43(11):1334-1341. PubMed ID: 29939776
    [Abstract] [Full Text] [Related]

  • 16. 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 18; 50(6):2599-606. PubMed ID: 19218601
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  • 18. A sella turcica bridge in subjects with dental anomalies.
    Leonardi R, Barbato E, Vichi M, Caltabiano M.
    Eur J Orthod; 2006 Dec 18; 28(6):580-5. PubMed ID: 16954179
    [Abstract] [Full Text] [Related]

  • 19. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
    Panicker SG, Sampath S, Mandal AK, Reddy AB, Ahmed N, Hasnain SE.
    Invest Ophthalmol Vis Sci; 2002 Dec 18; 43(12):3613-6. PubMed ID: 12454026
    [Abstract] [Full Text] [Related]

  • 20. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
    Borges AS, Susanna R, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY.
    J Glaucoma; 2002 Feb 18; 11(1):51-6. PubMed ID: 11821690
    [Abstract] [Full Text] [Related]

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