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Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Panagiotou ES, Fernandez-Fuentes N, Farraj LA, McKibbin M, Elçioglu NH, Jafri H, Cerman E, Parry DA, Logan CV, Johnson CA, Inglehearn CF, Toomes C, Ali M. Panagiotou ES, et al. Among authors: inglehearn cf. Mol Vis. 2022 May 17;28:57-69. eCollection 2022. Mol Vis. 2022. PMID: 35693420 Free PMC article.
A new pedigree with recessive mapping to CHED2 locus on 20p13.
Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF. Mohamed MD, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2001 Jun;85(6):758-9. doi: 10.1136/bjo.85.6.754d. Br J Ophthalmol. 2001. PMID: 11439918 Free PMC article. No abstract available.
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Toomes C, et al. Among authors: inglehearn cf. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369. Hum Mol Genet. 2001. PMID: 11440989
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions.
Ponchel F, Toomes C, Bransfield K, Leong FT, Douglas SH, Field SL, Bell SM, Combaret V, Puisieux A, Mighell AJ, Robinson PA, Inglehearn CF, Isaacs JD, Markham AF. Ponchel F, et al. Among authors: inglehearn cf. BMC Biotechnol. 2003 Oct 13;3:18. doi: 10.1186/1472-6750-3-18. BMC Biotechnol. 2003. PMID: 14552656 Free PMC article.
239 results