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CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Héon E. Billingsley G, et al. Am J Hum Genet. 2006 Oct;79(4):702-9. doi: 10.1086/507712. Epub 2006 Aug 17. Am J Hum Genet. 2006. PMID: 16960806 Free PMC article.
BBS mutational analysis: a strategic approach.
Billingsley G, Deveault C, Héon E. Billingsley G, et al. Ophthalmic Genet. 2011 Sep;32(3):181-7. doi: 10.3109/13816810.2011.567319. Epub 2011 Apr 4. Ophthalmic Genet. 2011. PMID: 21463199
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. Vincent A, et al. Among authors: billingsley g. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. Héon E, et al. Among authors: billingsley gd. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619. Am J Hum Genet. 1999. PMID: 10521291 Free PMC article.
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
Héon E, Paterson AD, Fraser M, Billingsley G, Priston M, Balmer A, Schorderet DF, Verner A, Hudson TJ, Munier FL. Héon E, et al. Among authors: billingsley g. Am J Hum Genet. 2001 Mar;68(3):772-7. doi: 10.1086/318798. Epub 2001 Feb 5. Am J Hum Genet. 2001. PMID: 11179024 Free PMC article.
94 results