BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 20385946)

  • 1. Ophthalmological features associated with COL4A1 mutations.
    Coupry I; Sibon I; Mortemousque B; Rouanet F; Mine M; Goizet C
    Arch Ophthalmol; 2010 Apr; 128(4):483-9. PubMed ID: 20385946
    [TBL] [Abstract][Full Text] [Related]  

  • 2. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
    Sibon I; Coupry I; Menegon P; Bouchet JP; Gorry P; Burgelin I; Calvas P; Orignac I; Dousset V; Lacombe D; Orgogozo JM; Arveiler B; Goizet C
    Ann Neurol; 2007 Aug; 62(2):177-84. PubMed ID: 17696175
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
    Rødahl E; Knappskog PM; Majewski J; Johansson S; Telstad W; Kråkenes J; Boman H
    Am J Ophthalmol; 2013 May; 155(5):946-53. PubMed ID: 23394911
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 9():43-8. PubMed ID: 12592227
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 43(12):3613-6. PubMed ID: 12454026
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.
    Mao M; Smith RS; Alavi MV; Marchant JK; Cosma M; Libby RT; John SW; Gould DB
    Invest Ophthalmol Vis Sci; 2015 Oct; 56(11):6823-31. PubMed ID: 26567795
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
    Meuwissen ME; Halley DJ; Smit LS; Lequin MH; Cobben JM; de Coo R; van Harssel J; Sallevelt S; Woldringh G; van der Knaap MS; de Vries LS; Mancini GM
    Genet Med; 2015 Nov; 17(11):843-53. PubMed ID: 25719457
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a New Genetic Mutation Associated With Peters Anomaly.
    Faber H; Puk O; Holz A; Biskup S; Voykov B
    Cornea; 2021 Mar; 40(3):373-376. PubMed ID: 33284162
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.
    Mortemousque B; Amati-Bonneau P; Couture F; Graffan R; Dubois S; Colin J; Bonneau D; Morissette J; Lacombe D; Raymond V
    Arch Ophthalmol; 2004 Oct; 122(10):1527-33. PubMed ID: 15477465
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
    Giorgio E; Vaula G; Bosco G; Giacone S; Mancini C; Calcia A; Cavalieri S; Di Gregorio E; Rigault De Longrais R; Leombruni S; Pinessi L; Cerrato P; Brusco A; Brussino A
    J Neurol Sci; 2015 May; 352(1-2):99-104. PubMed ID: 25873210
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye.
    Saffari A; Ziegler A; Merkenschlager A; Krüger S; Kölker S; Hoffmann GF; Syrbe S
    Neuropediatrics; 2020 Jun; 51(3):192-197. PubMed ID: 32045938
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Genetic dissection of anterior segment dysgenesis caused by a
    Mao M; Kiss M; Ou Y; Gould DB
    Dis Model Mech; 2017 Apr; 10(4):475-485. PubMed ID: 28237965
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
    Breedveld G; de Coo IF; Lequin MH; Arts WF; Heutink P; Gould DB; John SW; Oostra B; Mancini GM
    J Med Genet; 2006 Jun; 43(6):490-5. PubMed ID: 16107487
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
    Yang HJ; Lee YK; Joo CK; Moon JI; Mok JW; Park MH
    Korean J Ophthalmol; 2015 Aug; 29(4):249-55. PubMed ID: 26240509
    [TBL] [Abstract][Full Text] [Related]  

  • 16. COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.
    Durrani-Kolarik S; Manickam K; Chen B
    Pediatr Neurol; 2017 Jan; 66():100-103. PubMed ID: 28043398
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
    Kamińska A; Sokołowska-Oracz A; Pawluczyk-Dyjecińska M; Szaflik JP
    Klin Oczna; 2007; 109(7-9):321-6. PubMed ID: 18260289
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
    Weisschuh N; Wolf C; Wissinger B; Gramer E
    Clin Genet; 2008 Nov; 74(5):476-80. PubMed ID: 18498376
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
    Gillespie RL; Urquhart J; Lovell SC; Biswas S; Parry NR; Schorderet DF; Lloyd IC; Clayton-Smith J; Black GC
    Invest Ophthalmol Vis Sci; 2015 Jan; 56(2):883-91. PubMed ID: 25574057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 8(1):71-4. PubMed ID: 10713890
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.