PubMed

Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.

Kamal M, Shaaban AM, Zhang L, Walker C, Gray S, Thakker N, Toomes C, Speirs V, Bell SM.

Breast Cancer Res Treat. 2009 Aug 8. [Epub ahead of print]PMID: 19669408 [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

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

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

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

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ.

Am J Med Genet A. 2008 Jan 15;146A(2):182-90.PMID: 18076099 [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

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

The role of the Met98Lys optineurin variant in inherited optic nerve diseases.

Craig JE, Hewitt AW, Dimasi DP, Howell N, Toomes C, Cohn AC, Mackey DA.

Br J Ophthalmol. 2006 Nov;90(11):1420-4. Epub 2006 Aug 2.PMID: 16885188 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):402-8. Epub 2006 Jun 23.PMID: 16826533 [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

Coinheritance of two rare genodermatoses (Papillon-Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.

Hewitt C, Wu CL, Hattab FN, Amin W, Ghaffar KA, Toomes C, Sloan P, Read AP, James JA, Thakker NS.

Br J Dermatol. 2004 Dec;151(6):1261-5.PMID: 15606524 [PubMed - indexed for MEDLINE]Related articles

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

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

Hewitt C, McCormick D, Linden G, Turk D, Stern I, Wallace I, Southern L, Zhang L, Howard R, Bullon P, Wong M, Widmer R, Gaffar KA, Awawdeh L, Briggs J, Yaghmai R, Jabs EW, Hoeger P, Bleck O, Rüdiger SG, Petersilka G, Battino M, Brett P, Hattab F, Al-Hamed M, Sloan P, Toomes C, Dixon M, James J, Read AP, Thakker N.

Hum Mutat. 2004 Mar;23(3):222-8.PMID: 14974080 [PubMed - indexed for MEDLINE]Related articles

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

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.

Toomes C, Jackson A, Maguire K, Wood J, Gollin S, Ishwad C, Paterson I, Prime S, Parkinson K, Bell S, Woods G, Markham A, Oliver R, Woodward R, Sloan P, Dixon M, Read A, Thakker N.

Genes Chromosomes Cancer. 2003 Jun;37(2):132-40.PMID: 12696061 [PubMed - indexed for MEDLINE]Related articles

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

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG.

Am J Hum Genet. 2002 Jul;71(1):136-42. Epub 2002 Jun 3.PMID: 12046007 [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

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 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

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.

Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P.

Hum Genet. 2000 Apr;106(4):432-9.PMID: 10830911 [PubMed - indexed for MEDLINE]Related articles

Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT.

Genomics. 2000 Apr 1;65(1):67-9.PMID: 10777667 [PubMed - indexed for MEDLINE]Related articles

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS.

Nat Genet. 1999 Dec;23(4):421-4.PMID: 10581027 [PubMed - indexed for MEDLINE]Related articles

Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer.

Ishwad CS, Shuster M, Bockmühl U, Thakker N, Shah P, Toomes C, Dixon M, Ferrell RE, Gollin SM.

Int J Cancer. 1999 Jan 5;80(1):25-31.PMID: 9935225 [PubMed - indexed for MEDLINE]Related articles

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

Toomes C, Dixon MJ.

Genomics. 1998 Nov 1;53(3):308-14.PMID: 9799597 [PubMed - indexed for MEDLINE]Related articles

Mitral E wave propagation as an index of left ventricular diastolic function. I: Its hydrodynamic basis.

Pai RG, Yoganathan AP, Toomes C, Eberhardt C, Shah PM.

J Heart Valve Dis. 1998 Jul;7(4):438-44.PMID: 9697068 [PubMed - indexed for MEDLINE]Related articles

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.

Lawson CT, Toomes C, Fryer A, Carette MJ, Taylor GM, Fukushima Y, Dixon MJ.

Hum Mol Genet. 1995 May;4(5):963-7.PMID: 7633459 [PubMed - indexed for MEDLINE]Related articles