Inglehearn C - Search Results

1

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA. Abdelhamed ZA, et al. Among authors: inglehearn c. Hum Mol Genet. 2013 Apr 1;22(7):1358-72. doi: 10.1093/hmg/dds546. Epub 2013 Jan 2. Hum Mol Genet. 2013. PMID: 23283079 Free PMC article.

2

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.

al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, Bird AC, Bhattacharya SS. al-Maghtheh M, et al. Among authors: inglehearn cf. Hum Mol Genet. 1994 Feb;3(2):351-4. doi: 10.1093/hmg/3.2.351. Hum Mol Genet. 1994. PMID: 8004108

3

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.

Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S. Keen TJ, et al. Among authors: inglehearn cf. Hum Mol Genet. 1994 Feb;3(2):367-8. doi: 10.1093/hmg/3.2.367. Hum Mol Genet. 1994. PMID: 8004111 No abstract available.

4

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

al-Maghtheh M, Kim RY, Hardcastle A, Inglehearn C, Bhattacharya SS. al-Maghtheh M, et al. Among authors: inglehearn c. Hum Mol Genet. 1994 Jan;3(1):205-6. doi: 10.1093/hmg/3.1.205. Hum Mol Genet. 1994. PMID: 8162031 No abstract available.

5

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

Al-Maghtheh M, Vithana E, Tarttelin E, Jay M, Evans K, Moore T, Bhattacharya S, Inglehearn CF. Al-Maghtheh M, et al. Among authors: inglehearn cf. Am J Hum Genet. 1996 Oct;59(4):864-71. Am J Hum Genet. 1996. PMID: 8808602 Free PMC article.

6

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

7

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

8

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. McKie AB, et al. Among authors: inglehearn cf. Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555. Hum Mol Genet. 2001. PMID: 11468273

9

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.

10

Polymorphisms in OPA1 are associated with normal tension glaucoma.

Powell BL, Toomes C, Scott S, Yeung A, Marchbank NJ, Spry PG, Lumb R, Inglehearn CF, Churchill AJ. Powell BL, et al. Among authors: inglehearn cf. Mol Vis. 2003 Sep 22;9:460-4. Mol Vis. 2003. PMID: 14551537 Free article.

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