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Journal Abstract Search

176 related items for PubMed ID: 28388256

  • 1. Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
    Somashekar PH, Shukla A, Girisha KM.
    Ophthalmic Genet; 2017 Dec; 38(6):533-536. PubMed ID: 28388256
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
    Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.
    Eur J Hum Genet; 2016 Apr; 24(4):535-41. PubMed ID: 26130484
    [Abstract] [Full Text] [Related]

  • 3. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
    Riera M, Wert A, Nieto I, Pomares E.
    Mol Genet Genomic Med; 2017 Nov; 5(6):709-719. PubMed ID: 29178648
    [Abstract] [Full Text] [Related]

  • 4. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
    Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.
    Hum Mutat; 2008 Nov; 29(11):E278-83. PubMed ID: 18781617
    [Abstract] [Full Text] [Related]

  • 5. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.
    Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
    [Abstract] [Full Text] [Related]

  • 6. Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.
    Rafati M, Mohamadhashem F, Jalilian K, Hoseininasab F, Fakhri L, Hoseini A, Amiri H, Barati Z, Darzi Ramandi S, Mostofinezhad N, Mahmoudi AH, Ghaffari SR.
    Ophthalmic Genet; 2022 Apr; 43(2):262-267. PubMed ID: 34791963
    [Abstract] [Full Text] [Related]

  • 7. A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.
    Shimada A, Takagi M, Nagashima Y, Miyai K, Hasegawa Y.
    Horm Res Paediatr; 2016 Apr; 86(1):62-9. PubMed ID: 27299576
    [Abstract] [Full Text] [Related]

  • 8. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
    Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S.
    Eur J Med Genet; 2015 Feb; 58(2):66-70. PubMed ID: 25542770
    [Abstract] [Full Text] [Related]

  • 9. A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
    Lonero A, Delvecchio M, Primignani P, Caputo R, Bargiacchi S, Penco S, Mauri L, Andreucci E, Faienza MF, Cavallo L.
    J Pediatr Endocrinol Metab; 2016 May 01; 29(5):603-5. PubMed ID: 26974134
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
    Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S.
    BMC Med Genet; 2018 Sep 10; 19(1):160. PubMed ID: 30200890
    [Abstract] [Full Text] [Related]

  • 11. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
    Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO.
    Clin Genet; 2015 Nov 10; 88(5):468-73. PubMed ID: 25457163
    [Abstract] [Full Text] [Related]

  • 12. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
    Akbar W, Ullah A, Haider N, Suleman S, Khan FU, Shah AA, Sikandar MA, Basit S, Ahmad W.
    J Gene Med; 2024 Jan 10; 26(1):e3601. PubMed ID: 37758467
    [Abstract] [Full Text] [Related]

  • 13. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
    Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.
    Clin Genet; 2011 Feb 10; 79(2):158-68. PubMed ID: 20486942
    [Abstract] [Full Text] [Related]

  • 14. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
    Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.
    Clin Genet; 2014 Oct 10; 86(4):326-34. PubMed ID: 24033328
    [Abstract] [Full Text] [Related]

  • 15. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
    Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.
    Clin Genet; 2014 Nov 10; 86(5):475-81. PubMed ID: 24628545
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  • 18. [Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].
    Zhang Q, Xiang J, Yang F, Zhang W, Mao J, Liu Y, Li H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan 10; 38(1):56-58. PubMed ID: 33423259
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