Inglehearn CF - Search Results

1

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B, Springell K, Raashid Y, Jafri H, Inglehearn CF. McKibbin M, et al. Among authors: inglehearn cf. Arch Ophthalmol. 2010 Jan;128(1):107-13. doi: 10.1001/archophthalmol.2010.309. Arch Ophthalmol. 2010. PMID: 20065226

2

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.

3

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF. Mohamed MD, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2003 Apr;87(4):473-5. doi: 10.1136/bjo.87.4.473. Br J Ophthalmol. 2003. PMID: 12642313 Free PMC article.

4

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

Burt DW, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Gentle M, Smith J, Hocking PM, Inglehearn CF. Burt DW, et al. Among authors: inglehearn cf. Mol Vis. 2003 Apr 30;9:164-70. Mol Vis. 2003. PMID: 12724645 Free article.

5

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn CF. Keen TJ, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2003 May;11(5):420-3. doi: 10.1038/sj.ejhg.5200981. Eur J Hum Genet. 2003. PMID: 12734549

6

Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.

Inglehearn CF, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Smith J, Petersen-Jones S, Hocking PM, Burt DW. Inglehearn CF, et al. Mol Vis. 2003 Jul 1;9:295-300. Mol Vis. 2003. PMID: 12847422 Free article.

7

A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.

Pal B, Mohamed MD, Keen TJ, Williams GA, Bradbury JA, Sheridan E, Inglehearn CF. Pal B, et al. Among authors: inglehearn cf. J Med Genet. 2004 Oct;41(10):772-7. doi: 10.1136/jmg.2004.020040. J Med Genet. 2004. PMID: 15466012 Free PMC article. No abstract available.

8

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Woods CG, et al. Among authors: inglehearn cf. Am J Hum Genet. 2006 May;78(5):889-896. doi: 10.1086/503875. Epub 2006 Mar 21. Am J Hum Genet. 2006. PMID: 16642444 Free PMC article.

9

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

Hewitt AW, Bennett SL, Richards JE, Dimasi DP, Booth AP, Inglehearn C, Anwar R, Yamamoto T, Fingert JH, Héon E, Craig JE, Mackey DA. Hewitt AW, et al. Arch Ophthalmol. 2007 Jan;125(1):98-104. doi: 10.1001/archopht.125.1.98. Arch Ophthalmol. 2007. PMID: 17210859

10

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: inglehearn cf. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029

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