Search Results - "Toomes, C."

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome by Woods, C.G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S.M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.

“…Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by…”
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The natural history of OPA1-related autosomal dominant optic atrophy by Cohn, A C, Toomes, C, Hewitt, A W, Kearns, L S, Inglehearn, C F, Craig, J E, Mackey, D A

“…Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous disease. However, a large proportion of this disease is accounted for by mutations in…”
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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) by Briggs, T.A., Abdel-Salam, G.M.H., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B.H., Chitayat, D., Chong, W.K., Eid, M.M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K.K., Rice, G.I., Stephenson, J.B.P., Surtees, R., Talbot, J.F., Tehrani, N.N., Tolmie, J.L., Toomes, C., van der Knaap, M.S., Crow, Y.J.

“…Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune…”
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The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2 by Abdelhamed, Z, Natarajan, S, Inglehearn, C, Toomes, C, Johnson, C, Jagger, D

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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease by Marchbank, N J, Craig, J E, Leek, J P, Toohey, M, Churchill, A J, Markham, A F, Mackey, D A, Toomes, C, Inglehearn, C F

“…The FISH results confirm the deletion of one copy of the OPA1 gene in the affected and the carrier subjects. [...]we conclude that haploinsufficiency of the…”
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Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5 by Downey, L M, Bottomley, H M, Sheridan, E, Ahmed, M, Gilmour, D F, Inglehearn, C F, Reddy, A, Agrawal, A, Bradbury, J, Toomes, C

“…Background/aims: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding condition characterised by abnormal development of the retinal…”
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The role of the Met98Lys optineurin variant in inherited optic nerve diseases by Craig, J E, Hewitt, A W, Dimasi, D P, Howell, N, Toomes, C, Cohn, A C, Mackey, D A

“…Aims: To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and…”
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Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family by Mackey, D A, Hewitt, A W, Ruddle, J B, Vote, B, Buttery, R G, Toomes, C, Metlapally, R, Li, Y J, Tran-Viet, K N, Malecaze, F, Calvas, P, Rosenberg, T, Guggenheim, J A, Young, T L

“…To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia…”
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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy by TOOMES, Carmel, MARCHBANK, Nicola J, TEIMORY, Masoud, MARKHAM, Alexander F, INGLEHEARN, Chris F, CHURCHILL, Amanda J, MACKEY, David A, CRAIG, Jamie E, NEWBURY-ECOB, Ruth A, BENNETT, Chris P, VIZE, Colin J, DESAI, Shrivatsa P, BLACK, Graeme C. M, PATEL, Nishal

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Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study by Hewitt, C., Wu, C‐L., Hattab, F.N., Amin, W., Ghaffar, K.A., Toomes, C., Sloan, P., Read, A.P., James, J.A., Thakker, N.S.

“…Summary The co‐occurrence of two rare recessive genetic conditions in apparently unrelated individuals or families is extremely rare. Two geographically…”
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Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer by Ishwad, Chandramohan S., Shuster, Michele, Bockmühl, Ulrike, Thakker, Nalin, Shah, Punit, Toomes, Carmel, Dixon, Michael, Ferrell, Robert E., Gollin, Susanne M.

“…Frequent loss of heterozygosity on chromosome 8p in a variety of human malignancies, including head and neck cancers, has suggested the presence of a tumor…”
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CORD9 a New Locus for arCRD: Mapping to 8p11, Estimation of Frequency, Evaluation of a Candidate Gene by Danciger, Michael, Hendrickson, Jaimie, Lyon, Jessica, Toomes, Carmel, McHale, John C, Fishman, Gerald A, Inglehearn, Chris F, Jacobson, Samuel G, Farber, Debora B

“…To determine the locus of the mutant gene causing autosomal recessive cone-rod dystrophy (arCRD) in a consanguineous pedigree, to evaluate a candidate gene…”
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Refinement of a Translocation Breakpoint Associated with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome to a 280-kb Interval at Chromosome 3q23 by Toomes, Carmel, Dixon, Michael J.

“…Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which include blepharophimosis, ptosis, and…”
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Importance of molecular testing in dominant optic atrophy by Patel, N, Churchill, A J, Toomes, C, Marchbank, N J, Inglehearn, C F, Foulds, N, Moosavi, A, Teimory, M

“…Blood was taken for screening of the OPA1 coding region using single stranded polymorphism analysis (SSCP) and automated DNA sequencing as previously…”
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Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies by Lawson, C T, Toomes, C, Fryer, A, Carette, M J, Taylor, G M, Fukushima, Y, Dixon, M J

“…Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures…”
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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q by Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C.M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.

“…Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically…”
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A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype by Murton, N J, French, L, Toomes, C, Joseph, S S, Rehman, I, Hopkins, B L, Inglehearn, C F, Churchill, A J

“…Dominant optic atrophy (DOA, gene OPA1) is the commonest form of inherited optic atrophy. Linkage studies have shown that a locus for this disease lies in a…”
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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain by Jackson, Andrew P., Eastwood, Helen, Bell, Sandra M., Adu, Jimi, Toomes, Carmel, Carr, Ian M., Roberts, Emma, Hampshire, Daniel J., Crow, Yanick J., Mighell, Alan J., Karbani, Gulshan, Jafri, Hussain, Rashid, Yasmin, Mueller, Robert F., Markham, Alexander F., Woods, C. Geoffrey

“…Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental condition in which there is a global reduction in cerebral cortex volume, to a…”
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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 by Ponchel, Frederique, Toomes, Carmel, Bransfield, Kieran, Leong, Fong T, Douglas, Susan H, Field, Sarah L, Bell, Sandra M, Combaret, Valerie, Puisieux, Alain, Mighell, Alan J, Robinson, Philip A, Inglehearn, Chris F, Isaacs, John D, Markham, Alex F

“…Real-time PCR is increasingly being adopted for RNA quantification and genetic analysis. At present the most popular real-time PCR assay is based on the…”
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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis by James, Jacqueline, Davies, Robin, Read, Andrew P, Roberts, Emma, Woods, C. Geoffrey, Wood, A. Joseph, McCormick, Derek, Hewitt, Chelsee, Ghaffar, Khaled Abdul, Thakker, Nalin S, Widmer, Richard, Wong, Melanie, Sloan, Philip, Lench, Nicholas, Hussein, Ibtessam Ramzy, Pemberton, Michael, Dixon, Michael J, Markham, Alexander, Temtamy, Samia A, Wu, Chu Lee, Toomes, Carmel, Moynihan, Leanne

“…Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained…”
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