檢索結果 - Carmel Toomes

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  1. 1
    Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

    Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy 由 Carmel Toomes

    出版 2001
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  2. 2
    Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome

    Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome 由 Gabrielle Wheway, Zakia Abdelhamed, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson

    出版 2013
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  3. 3
    Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

    Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt s... 由 Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson

    出版 2013
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  4. 4
    The natural history of OPA1-related autosomal dominant optic atrophy

    The natural history of OPA1-related autosomal dominant optic atrophy 由 Amy Cohn, Carmel Toomes, Alex W. Hewitt, Lisa S. Kearns, C.F. Inglehearn, Jamie E. Craig, David A. Mackey

    出版 2008
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  5. 5
    The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

    The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway 由 Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, C.F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger

    出版 2015
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  6. 6
    Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

    Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome 由 Salina Siddiqui, Juan Carlos Zenteno, Aine Rice, Oscar F. Chacón‐Camacho, Steven G. Naylor, David Rivera-De la Parra, David Spokes, Nigel James, Carmel Toomes, Chris F. Inglehearn, Manir Ali

    出版 2013
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  7. 7
    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

    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 deleti... 由 Frédérique Ponchel, Carmel Toomes, Kieran Bransfield, Fong T. Leong, Susan Douglas, Sarah Field, Sandra Bell, Valérie Combaret, Alain Puisieux, Alan J. Mighell, Philip A. Robinson, Chris F. Inglehearn, John D. Isaacs, Alex Markham

    出版 2003
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  8. 8
    Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

    Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome 由 C. Geoffrey Woods, Sigmar Stricker, Petra Seemann, Rowena Stern, James J. Cox, E. Sherridan, Emma Roberts, Kelly Springell, Simon Scott, Gulshan Karbani, Saghira Malik Sharif, Carmel Toomes, Jacquelyn Bond, Dheeraj Kumar, Lihadh Al‐Gazali, Stefan Mundlos

    出版 2006
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  9. 9
    Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

    Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy 由 James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, Hiroyuki Kondo, Kenshi Hayashi, David A. Mackey, Lisa S. Kearns, Jonathan B. Ruddle, Jamie E. Craig, Eric A. Pierce, Louise Downey, Moin Mohamed, Alexander F. Markham, Chris F. Inglehearn, Carmel Toomes

    出版 2010
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  10. 10
    Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

    Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain 由 Andrew P. Jackson, Helen Eastwood, Sandra Bell, Jimi Adu, Carmel Toomes, Ian Carr, Emma Roberts, Daniel J. Hampshire, Yanick J. Crow, Alan J. Mighell, Gulshan Karbani, Hussain Jafri, Yasmin Abdul Rashid, Robert F. Mueller, Alexander F. Markham, C. Geoffrey Woods

    出版 2002
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  11. 11
    Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

    Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q 由 Carmel Toomes, H.M. Bottomley, Richard M. Jackson, Katherine V. Towns, Sheila Scott, David A. Mackey, Jamie E. Craig, Li Jiang, Zhenglin Yang, Richard C. Trembath, Geoffrey Woodruff, Cheryl Y. Gregory‐Evans, Kevin Gregory-Evans, Michael Parker, Graeme Black, Louise Downey, Kang Zhang, Chris F. Inglehearn

    出版 2004
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  12. 12
    Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

    Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR 由 Evangelia S. Panagiotou, Carla Sanjurjo Soriano, James A. Poulter, Emma Lord, Denisa Dzulova, Hiroyuki Kondo, Atsushi Hiyoshi, Brian Hon‐Yin Chung, Yoyo W. Y. Chu, Connie Lai, Mark E. Tafoya, Dyah W. Karjosukarso, Rob W.J. Collin, Joanne Topping, Louise Downey, Manir Ali, Chris F. Inglehearn, Carmel Toomes

    出版 2017
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  13. 13
    Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

    Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy 由 Rachel L. Taylor, Gavin Arno, James A. Poulter, Kamron Khan, Jiten Morarji, Sarah Hull, Nikolas Pontikos, Antonio Rueda Martin, Katherine R. Smith, Manir Ali, Carmel Toomes, Martin McKibbin, Jill Clayton‐Smith, Stephanie Grünewald, Michel Michaelides, Anthony T. Moore, Alison J. Hardcastle, Chris F. Inglehearn, Andrew R. Webster, Graeme Black

    出版 2017
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  14. 14
    Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

    Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects 由 Kamron Khan, Clare V. Logan, Martin McKibbin, Eamonn Sheridan, Nursel Elçioğlu, Özlem Yenice, David Parry, Narcís Fernández‐Fuentes, Zakia Abdelhamed, Ahmed Al-Maskari, James A. Poulter, Moin Mohamed, Ian Carr, Joanne Morgan, Hussain Jafri, Yasmin Raashid, Graham R. Taylor, Colin A. Johnson, Chris F. Inglehearn, Carmel Toomes, Manir Ali

    出版 2011
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  15. 15
    Specific Alleles of <i>CLN7</i>/<i>MFSD8</i>, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

    Specific Alleles of <i>CLN7</i>/<i>MFSD8</i>, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy 由 Kamron Khan, Mohammed E. El‐Asrag, Cristy A. Ku, Graham E. Holder, Martin McKibbin, Gavin Arno, James A. Poulter, Keren Carss, Tejaswi Bommireddy, Saghar Bagheri, Benjamin Bakall, Hendrik P. N. Scholl, F. Lucy Raymond, Carmel Toomes, Chris F. Inglehearn, Mark E. Pennesi, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Manir Ali

    出版 2017
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  16. 16
    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis 由 Carmel Toomes, Jacqueline A. James, Andrew J. Wood, Chu Wu, D. McCormick, Nicholas Lench, Chelsee Hewitt, Leanne Moynihan, Emma Roberts, C. Geoffrey Woods, Alexander F. Markham, Melanie Wong, Richard P Widmer, Khaled Abdel Ghaffar, Michael Pemberton, Ibtessam R. Hussein, Samia A. Temtamy, Robin Davies, Andrew Read, Philip Sloan, Michael J. Dixon, Nalin Thakker

    出版 1999
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  17. 17
    Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

    Null Mutations in LTBP2 Cause Primary Congenital Glaucoma 由 Manir Ali, Martin McKibbin, Adam Booth, David Parry, Payal Jain, Sheikh Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine V. Towns, Anna-Louise Murphy, Dimitar N. Azmanov, Ivailo Tournev, Sylvia Cherninkova, Hussain Jafri, Yasmin Raashid, Carmel Toomes, Jamie E. Craig, David A. Mackey, Luba Kalaydjieva, Sheikh Riazuddin, Chris F. Inglehearn

    出版 2009
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  18. 18
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) 由 Tracy A. Briggs, Ghada M. H. Abdel‐Salam, Maryagnes R. Balicki, Peter Baxter, Enrico Bertini, Nick Bishop, B H Browne, David Chitayat, W.K. Chong, Maha M. Eid, William Halliday, Imelda Hughes, A. Klusmann‐Koy, Mary Kurian, Ken K. Nischal, Gillian Rice, John B.P. Stephenson, R. Surtees, J F Talbot, Nasrin Tehrani, John Tolmie, Carmel Toomes, Marjo S. van der Knaap, Yanick J. Crow

    出版 2007
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  19. 19
    Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

    Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice 由 David Parry, Carmel Toomes, L. Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca K. Chance, Steven Swendeman, Lauren L. Daniele, Kelly Springell, Matthew Adams, Colin A. Johnson, Adam Booth, Hussain Jafri, Yasmin Abdul Rashid, Eyal Banin, Tim M. Strom, Debora B. Farber, Dror Sharon, Carl Blobel, Edward N. Pugh, Eric A. Pierce, Chris F. Inglehearn

    出版 2009
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  20. 20
    <i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

    <i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature 由 Rob W.J. Collin, Konstantinos Nikopoulos, Margo Dona, Christian Gilissen, Alexander Hoischen, F. Nienke Boonstra, James A. Poulter, Hiroyuki Kondo, Wolfgang Berger, Carmel Toomes, Tomoko Tahira, Lucas Mohn, Ellen A.W. Blokland, Lisette Hetterschijt, Manir Ali, Johanne M. Groothuismink, Lonneke Duijkers, Chris F. Inglehearn, Lea Sollfrank, Tim M. Strom, Eiichi Uchio, C. E. van Nouhuys, Hannie Kremer, Joris A. Veltman, Erwin van Wijk, Frans P.M. Cremers

    出版 2013
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