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Journal Abstract Search

191 related items for PubMed ID: 30225942

  • 1. Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
    Corona-Rivera JR, Corona-Rivera A, Zepeda-Romero LC, Rios-Flores IM, Rivera-Vargas J, Orozco-Vela M, Santana-Bejarano UF, Torres-Anguiano E, Pinto-Cardoso M, David D, Bobadilla-Morales L.
    Congenit Anom (Kyoto); 2019 Sep; 59(5):174-178. PubMed ID: 30225942
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  • 4. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
    Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.
    Am J Med Genet A; 2011 Dec; 155A(12):2925-32. PubMed ID: 22009788
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  • 5. Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
    Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.
    Am J Med Genet A; 2012 Oct; 158A(10):2430-8. PubMed ID: 22903608
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  • 10. 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
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  • 13. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
    Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T.
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1843-9. PubMed ID: 12036988
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  • 14. FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.
    Ovaert C, Busa T, Faure E, Missirian C, Philip N, Paoli F, Milh M, Macé L, Zaffran S.
    Am J Med Genet A; 2017 Sep; 173(9):2489-2493. PubMed ID: 28657660
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  • 15. 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; 15(6):905-19. PubMed ID: 16449236
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  • 16. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
    Micheal S, Siddiqui SN, Zafar SN, Villanueva-Mendoza C, Cortés-González V, Khan MI, den Hollander AI.
    PLoS One; 2016 Mar 15; 11(7):e0160016. PubMed ID: 27463523
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  • 18. 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 15; 135(3):368-75. PubMed ID: 12614756
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  • 19. Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.
    Yamazaki H, Nakamura T, Hosono K, Yamaguchi T, Hiratsuka Y, Hotta Y, Takahashi M.
    Auris Nasus Larynx; 2021 Dec 15; 48(6):1204-1208. PubMed ID: 32741584
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