PubMed

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta.

El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2009 Nov;85(5):699-705. Epub 2009 Oct 22.PMID: 19853237 [PubMed - in process]Related articles

CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy With Inner Retinopathy.

Aleman T, Soumittra N, Cideciyan AV, Sumaroka A, Ramprasad V, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Jul 2. [Epub ahead of print]PMID: 19578027 [PubMed - as supplied by publisher]Related articles

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Gilmour DF, Downey LM, Sheridan E, Long V, Bradbury J, Inglehearn CF, Toomes C.

Ophthalmology. 2009 Aug;116(8):1522-4. Epub 2009 Jun 5.PMID: 19501404 [PubMed - indexed for MEDLINE]Related articles

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. Epub 2009 May 10.PMID: 19430481 [PubMed - in process]Related articles

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):683-91. Epub 2009 Apr 30.PMID: 19409519 [PubMed - indexed for MEDLINE]Related articlesFree article

Null mutations in LTBP2 cause primary congenital glaucoma.

Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):664-71. Epub 2009 Apr 9.PMID: 19361779 [PubMed - indexed for MEDLINE]Related articlesFree article

Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea.

Boote C, Hayes S, Young RD, Kamma-Lorger CS, Hocking PM, Elsheikh A, Inglehearn CF, Ali M, Meek KM.

J Struct Biol. 2009 May;166(2):195-204. Epub 2009 Mar 1.PMID: 19258040 [PubMed - indexed for MEDLINE]Related articlesFree article

Replication of the recessive STBMS1 locus but with dominant inheritance.

Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby CE, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF.

Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3210-7. Epub 2009 Feb 14.PMID: 19218600 [PubMed - indexed for MEDLINE]Related articles

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF.

Am J Hum Genet. 2009 Feb;84(2):266-73. Epub 2009 Feb 5.PMID: 19200525 [PubMed - indexed for MEDLINE]Related articlesFree article

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Ivings L, Towns KV, Matin MA, Taylor C, Ponchel F, Grainger RJ, Ramesar RS, Mackey DA, Inglehearn CF.

Mol Vis. 2008;14:2357-66. Epub 2008 Dec 18.PMID: 19096719 [PubMed - indexed for MEDLINE]Related articlesFree article

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF.

Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30.PMID: 18978954 [PubMed - indexed for MEDLINE]Related articlesFree article

The natural history of OPA1-related autosomal dominant optic atrophy.

Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA.

Br J Ophthalmol. 2008 Oct;92(10):1333-6. Epub 2008 Jul 24.PMID: 18653586 [PubMed - indexed for MEDLINE]Related articles

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration.

Graziotto JJ, Inglehearn CF, Pack MA, Pierce EA.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3830-8. Epub 2008 Jun 14.PMID: 18552388 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G.

Mol Vis. 2008 Mar 10;14:481-6.PMID: 18334959 [PubMed - indexed for MEDLINE]Related articlesFree article

Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype--an X-ray diffraction study.

Boote C, Hayes S, Jones S, Quantock AJ, Hocking PM, Inglehearn CF, Ali M, Meek KM.

J Struct Biol. 2008 Jan;161(1):1-8. Epub 2007 Sep 7.PMID: 17936639 [PubMed - indexed for MEDLINE]Related articles

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.

Boon KL, Grainger RJ, Ehsani P, Barrass JD, Auchynnikava T, Inglehearn CF, Beggs JD.

Nat Struct Mol Biol. 2007 Nov;14(11):1077-83. Epub 2007 Oct 14.PMID: 17934474 [PubMed - indexed for MEDLINE]Related articlesFree article

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.

Ghazawy S, Springell K, Gauba V, McKibbin MA, Inglehearn CF.

Br J Ophthalmol. 2007 Oct;91(10):1411-3. No abstract available. PMID: 17895420 [PubMed - indexed for MEDLINE]Related articles

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.

Nat Genet. 2007 Jul;39(7):889-95. Epub 2007 Jun 3.PMID: 17546029 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA.

Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.PMID: 17306754 [PubMed - indexed for MEDLINE]Related articles

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens.

Tummala H, Ali M, Getty P, Hocking PM, Burt DW, Inglehearn CF, Lester DH.

Invest Ophthalmol Vis Sci. 2006 Nov;47(11):4714-8.PMID: 17065478 [PubMed - indexed for MEDLINE]Related articlesFree article

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

Downey LM, Bottomley HM, Sheridan E, Ahmed M, Gilmour DF, Inglehearn CF, Reddy A, Agrawal A, Bradbury J, Toomes C.

Br J Ophthalmol. 2006 Sep;90(9):1163-7.PMID: 16929062 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.

Nat Genet. 2006 Jul;38(7):755-7. Epub 2006 Jun 11.PMID: 16767101 [PubMed - indexed for MEDLINE]Related articles

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.

Am J Hum Genet. 2006 May;78(5):889-96. Epub 2006 Mar 21.PMID: 16642444 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Eur J Hum Genet. 2006 Jan;14(1):6-7; author reply 7-8. No abstract available. PMID: 16319824 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Br J Ophthalmol. 2005 Feb;89(2):194-7.PMID: 15665352 [PubMed - indexed for MEDLINE]Related articlesFree article

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.

Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM.

Exp Cell Res. 2004 Nov 1;300(2):283-96.PMID: 15474994 [PubMed - indexed for MEDLINE]Related articles

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.

J Med Genet. 2004 Oct;41(10):772-7. No abstract available. PMID: 15466012 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2083-90.PMID: 15223780 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Am J Hum Genet. 2004 Apr;74(4):721-30. Epub 2004 Mar 11.PMID: 15024691 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Mol Vis. 2004 Jan 15;10:37-42.PMID: 14737064 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

BMC Biotechnol. 2003 Oct 13;3:18.PMID: 14552656 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Mol Vis. 2003 Sep 22;9:460-4.PMID: 14551537 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinitis pigmentosa: genes, proteins and prospects.

Hims MM, Diager SP, Inglehearn CF.

Dev Ophthalmol. 2003;37:109-25. Review.PMID: 12876833 [PubMed - indexed for MEDLINE]Related articles

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.

Mol Vis. 2003 Jul 1;9:295-300.PMID: 12847422 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Eur J Hum Genet. 2003 May;11(5):420-3.PMID: 12734549 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Mol Vis. 2003 Apr 30;9:164-70.PMID: 12724645 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Br J Ophthalmol. 2003 Apr;87(4):473-5.PMID: 12642313 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.

Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF.

Eur J Hum Genet. 2002 Dec;10(12):865-9.PMID: 12461695 [PubMed - indexed for MEDLINE]Related articlesFree article

Importance of molecular testing in dominant optic atrophy.

Patel N, Churchill AJ, Toomes C, Marchbank NJ, Inglehearn CF, Foulds N, Moosavi A, Teimory M.

Br J Ophthalmol. 2002 Nov;86(11):1314-5. No abstract available. PMID: 12386098 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

J Med Genet. 2002 Aug;39(8):e47. No abstract available. PMID: 12161614 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF.

Eur J Hum Genet. 2002 Apr;10(4):245-9.PMID: 12032732 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS.

Hum Mol Genet. 2002 Jan 1;11(1):87-92.PMID: 11773002 [PubMed - indexed for MEDLINE]Related articlesFree article

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.PMID: 11581183 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Hum Mol Genet. 2001 Jul 15;10(15):1555-62.PMID: 11468273 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Hum Mol Genet. 2001 Jun 15;10(13):1369-78.PMID: 11440989 [PubMed - indexed for MEDLINE]Related articlesFree article

A new pedigree with recessive mapping to CHED2 locus on 20p13.

Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF.

Br J Ophthalmol. 2001 Jun;85(6):758-9. No abstract available. PMID: 11439918 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Cytogenet Cell Genet. 2001;92(1-2):97-102.PMID: 11306804 [PubMed - indexed for MEDLINE]Related articles

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF.

Am J Hum Genet. 2001 Mar;68(3):778-81. Epub 2001 Jan 19.PMID: 11179025 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Hum Mutat. 2000 Jun;15(6):582. No abstract available. PMID: 10862096 [PubMed - indexed for MEDLINE]Related articles

Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus.

McHale JC, McKie AB, Tarttelin EE, Inglehearn CF.

Cytogenet Cell Genet. 2000;88(3-4):225-9.PMID: 10828595 [PubMed - indexed for MEDLINE]Related articles