BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

306 related articles for article (PubMed ID: 29100920)

  • 1. 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.
    Vande Perre P; Zazo Seco C; Patat O; Bouneau L; Vigouroux A; Bourgeois D; El Hout S; Chassaing N; Calvas P
    Eur J Med Genet; 2018 Feb; 61(2):72-78. PubMed ID: 29100920
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 72(5):464-70. PubMed ID: 17850355
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
    Lines MA; Kozlowski K; Kulak SC; Allingham RR; Héon E; Ritch R; Levin AV; Shields MB; Damji KF; Newlin A; Walter MA
    Invest Ophthalmol Vis Sci; 2004 Mar; 45(3):828-33. PubMed ID: 14985297
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.
    Titheradge H; Togneri F; McMullan D; Brueton L; Lim D; Williams D
    Am J Med Genet A; 2014 Jul; 164A(7):1695-701. PubMed ID: 24715413
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome.
    Yang Y; Wang X; Zhao Y; Qin M
    Oral Dis; 2018 Oct; 24(7):1247-1254. PubMed ID: 29774977
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 11(1):51-6. PubMed ID: 11821690
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 43(11):1334-1341. PubMed ID: 29939776
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
    Seifi M; Footz T; Taylor SA; Elhady GM; Abdalla EM; Walter MA
    Acta Ophthalmol; 2016 Nov; 94(7):e571-e579. PubMed ID: 27009473
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
    Hernández-Martínez N; González-Del Angel A; Alcántara-Ortigoza MA; González-Huerta LM; Cuevas-Covarrubias SA; Villanueva-Mendoza C
    Ophthalmic Genet; 2018 Dec; 39(6):728-734. PubMed ID: 30457409
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 47(5):1803-9. PubMed ID: 16638984
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.
    Maldžienė Ž; Preikšaitienė E; Ignotienė S; Kapitanova N; Utkus A; Kučinskas V
    Cytogenet Genome Res; 2017; 151(1):5-9. PubMed ID: 28226328
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.
    Yun JW; Cho HK; Oh SY; Ki CS; Kee C
    Ann Lab Med; 2013 Sep; 33(5):360-3. PubMed ID: 24003428
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.
    Fan Z; Sun S; Liu H; Yu M; Liu Z; Wong SW; Liu Y; Han D; Feng H
    Oral Dis; 2019 Nov; 25(8):2010-2019. PubMed ID: 31529555
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.
    Ji Y; Buel SM; Amack JD
    Dev Biol; 2016 Aug; 416(1):69-81. PubMed ID: 27297886
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
    Gripp KW; Hopkins E; Jenny K; Thacker D; Salvin J
    Am J Med Genet A; 2013 Jan; 161A(1):114-9. PubMed ID: 23239455
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
    Walter MA; Mirzayans F; Mears AJ; Hickey K; Pearce WG
    Ophthalmology; 1996 Nov; 103(11):1907-15. PubMed ID: 8942889
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
    Honkanen RA; Nishimura DY; Swiderski RE; Bennett SR; Hong S; Kwon YH; Stone EM; Sheffield VC; Alward WL
    Am J Ophthalmol; 2003 Mar; 135(3):368-75. PubMed ID: 12614756
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.
    Zhao CM; Peng LY; Li L; Liu XY; Wang J; Zhang XL; Yuan F; Li RG; Qiu XB; Yang YQ
    PLoS One; 2015; 10(4):e0124409. PubMed ID: 25893250
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
    Berry FB; Lines MA; Oas JM; Footz T; Underhill DA; Gage PJ; Walter MA
    Hum Mol Genet; 2006 Mar; 15(6):905-19. PubMed ID: 16449236
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.