Toomes C - Search Results

1

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: toomes c. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.

2

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. Lawson CT, et al. Among authors: toomes c. Hum Mol Genet. 1995 May;4(5):963-7. doi: 10.1093/hmg/4.5.963. Hum Mol Genet. 1995. PMID: 7633459

3

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. Pai RG, et al. Among authors: toomes c. J Heart Valve Dis. 1998 Jul;7(4):438-44. J Heart Valve Dis. 1998. PMID: 9697068

4

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. Praphanphoj V, et al. Among authors: toomes c. Genomics. 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. Genomics. 2000. PMID: 10777667 Free article.

5

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. Hewitt C, et al. Among authors: toomes c. Hum Mutat. 2004 Mar;23(3):222-8. doi: 10.1002/humu.10314. Hum Mutat. 2004. PMID: 14974080

6

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

Toomes C, Dixon MJ. Toomes C, et al. Genomics. 1998 Nov 1;53(3):308-14. doi: 10.1006/geno.1998.5512. Genomics. 1998. PMID: 9799597

7

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

Abdelhamed ZA, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA, Jagger DJ. Abdelhamed ZA, et al. Among authors: toomes c. Dis Model Mech. 2015 Jun;8(6):527-41. doi: 10.1242/dmm.019083. Epub 2015 Apr 7. Dis Model Mech. 2015. PMID: 26035863 Free PMC article.

8

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. Woods CG, et al. Among authors: toomes c. Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826533 Free PMC article.

9

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA. Edwards TL, et al. Among authors: toomes c. Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19. Clin Exp Ophthalmol. 2012. PMID: 22574936

10

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. Toomes C, et al. Nat Genet. 1999 Dec;23(4):421-4. doi: 10.1038/70525. Nat Genet. 1999. PMID: 10581027

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

96 results

Search Page