Inglehearn CF - Search Results

1

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.

Taylor RL, Soriano CS, Williams S, Dzulova D, Ashworth J, Hall G, Gale T, Lloyd IC, Inglehearn CF, Toomes C, Douzgou S, Black GC. Taylor RL, et al. Among authors: inglehearn cf. Orphanet J Rare Dis. 2022 Mar 4;17(1):110. doi: 10.1186/s13023-022-02239-3. Orphanet J Rare Dis. 2022. PMID: 35246174 Free PMC article.

2

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.

Murton NJ, Rehman I, Black GC, Inglehearn CF, Churchill AJ. Murton NJ, et al. Among authors: inglehearn cf. Hum Mutat. 2000 Jun;15(6):582. doi: 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M. Hum Mutat. 2000. PMID: 10862096 No abstract available.

3

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.

Murton NJ, French L, Toomes C, Joseph SS, Rehman I, Hopkins BL, Inglehearn CF, Churchill AJ. Murton NJ, et al. Among authors: inglehearn cf. Cytogenet Cell Genet. 2001;92(1-2):97-102. doi: 10.1159/000056876. Cytogenet Cell Genet. 2001. PMID: 11306804

4

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

5

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF. Marchbank NJ, et al. Among authors: inglehearn cf. J Med Genet. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47. J Med Genet. 2002. PMID: 12161614 Free PMC article. No abstract available.

6

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF. Toomes C, et al. Among authors: inglehearn cf. Mol Vis. 2004 Jan 15;10:37-42. Mol Vis. 2004. PMID: 14737064 Free article.

7

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Toomes C, et al. Among authors: inglehearn cf. Am J Hum Genet. 2004 Apr;74(4):721-30. doi: 10.1086/383202. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024691 Free PMC article.

8

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF. Toomes C, et al. Among authors: inglehearn cf. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2083-90. doi: 10.1167/iovs.03-1044. Invest Ophthalmol Vis Sci. 2004. PMID: 15223780

9

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF. Toomes C, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2005 Feb;89(2):194-7. doi: 10.1136/bjo.2004.042507. Br J Ophthalmol. 2005. PMID: 15665352 Free PMC article.

10

Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'.

Bottomley HM, Downey LM, Inglehearn CF, Toomes C. Bottomley HM, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2006 Jan;14(1):6-7; author reply 7-8. doi: 10.1038/sj.ejhg.5201523. Eur J Hum Genet. 2006. PMID: 16319824 No abstract available.

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