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Journal Abstract Search

191 related items for PubMed ID: 33950863

  • 1. The phenotypic spectrum associated with OTX2 mutations in humans.
    Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT.
    Eur J Endocrinol; 2021 May 25; 185(1):121-135. PubMed ID: 33950863
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  • 8. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
    Diaczok D, Romero C, Zunich J, Marshall I, Radovick S.
    J Clin Endocrinol Metab; 2008 Nov 25; 93(11):4351-9. PubMed ID: 18728160
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  • 9. Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
    Somashekar PH, Shukla A, Girisha KM.
    Ophthalmic Genet; 2017 Dec 25; 38(6):533-536. PubMed ID: 28388256
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  • 10. A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
    Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC.
    Eur J Endocrinol; 2012 Sep 25; 167(3):441-52. PubMed ID: 22715480
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  • 15. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
    McCabe MJ, Alatzoglou KS, Dattani MT.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb 25; 25(1):115-24. PubMed ID: 21396578
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  • 18. Deletion of OTX2 in neural ectoderm delays anterior pituitary development.
    Mortensen AH, Schade V, Lamonerie T, Camper SA.
    Hum Mol Genet; 2015 Feb 15; 24(4):939-53. PubMed ID: 25315894
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  • 19. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
    Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR, FORGE Canada Consortium, Héon E.
    J Med Genet; 2014 Dec 15; 51(12):797-805. PubMed ID: 25293953
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  • 20. 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 15; 24(4):535-41. PubMed ID: 26130484
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