Результати пошуку - Clare V. Logan

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  1. 1
    Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

    Recent advances in the molecular pathology, cell biology and genetics of ciliopathies за авторством Matthew Adams, Ursula M. Smith, Clare V. Logan, Colin A. Johnson

    Опубліковано 2008
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  2. 2
    The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome

    The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome за авторством Laura S. Farach, Mary Ellen Little, Angela L. Duker, Clare V. Logan, Andrew P. Jackson, Jaqueline T. Hecht, Michael B. Bober

    Опубліковано 2017
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  3. 3
    Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

    Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton за авторством Helen R. Dawe, Matthew Adams, Gabrielle Wheway, Katarzyna Szymańska, Clare V. Logan, Angelika A. Noegel, Keith Gull, Colin A. Johnson

    Опубліковано 2009
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  4. 4
    Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

    Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies за авторством Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson

    Опубліковано 2012
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  5. 5
    Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

    Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta за авторством David Parry, James A. Poulter, Clare V. Logan, Steven J. Brookes, Hussain Jafri, Christopher H. Ferguson, Babra M. Anwari, Yasmin Abdul Rashid, Haiqing Zhao, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell

    Опубліковано 2013
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  6. 6
    A meckelin–filamin A interaction mediates ciliogenesis

    A meckelin–filamin A interaction mediates ciliogenesis за авторством Matthew Adams, Roslyn Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymańska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson

    Опубліковано 2011
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  7. 7
    Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

    Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data за авторством Ian Carr, Joanne Morgan, Christopher M. Watson, Svitlana Melnik, Christine P. Diggle, Clare V. Logan, Sally M. Harrison, Graham R. Taylor, Sérgio D.J. Pena, Alexander F. Markham, Fowzan S. Alkuraya, Graeme Black, Manir Ali, David T. Bonthron

    Опубліковано 2013
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  8. 8
    Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

    Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis за авторством Roberto Bellelli, Valérie Borel, Clare V. Logan, Jennifer M. Svendsen, Danielle E. Cox, Emma Nye, Kay Metcalfe, Susan O’Çonnell, Gordon Stamp, Helen R. Flynn, Ambrosius P. Snijders, François Lassailly, Andrew P. Jackson, Simon J. Boulton

    Опубліковано 2018
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  9. 9
    A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

    A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency за авторством David Parry, Tim D. Holmes, Nikita Gamper, Walid El‐Sayed, Nishani T. Hettiarachchi, Mushtaq Ahmed, Graham P. Cook, Clare V. Logan, Colin A. Johnson, Shelagh Joss, Chris Peers, Katrina Prescott, Sinisa Savic, Chris F. Inglehearn, Alan J. Mighell

    Опубліковано 2015
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  10. 10
    Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

    Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations за авторством Ana Carolina Acevedo, James A. Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Cláudio Castro, Paulo Márcio Yamaguti, Lílian Marly de Paula, David Parry, Clare V. Logan, Claire E. L. Smith, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell

    Опубліковано 2015
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  11. 11
    <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome

    <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome за авторством Ronja Hollstein, David Parry, Nalbach Lisa, Clare V. Logan, Tim M. Strom, Verity Hartill, Ian Carr, Georg Christoph Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F. Markham, Christopher Bennett, Gabriele Gillessen‐Kaesbach, Eamonn Sheridan, Frank J. Kaiser, David T. Bonthron

    Опубліковано 2015
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  12. 12
    Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

    Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte за авторством David Parry, Clare V. Logan, Bruce E. Hayward, Michael Shires, Hanène Landolsi, Christine P. Diggle, Ian Carr, Cécile Rittore, Isabelle Touitou, Laurent Philibert, Rosemary A. Fisher, Masoumeh Fallahian, John Huntriss, Helen M. Picton, Saghira Malik, Graham R. Taylor, Colin A. Johnson, David T. Bonthron, Eamonn Sheridan

    Опубліковано 2011
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  13. 13
    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain за авторством Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz, David Parry, Susan Maxwell, Pilar Martínez‐Martínez, Joey Riepsaame, Zakia A. Abdelhamed, Alice V. R. Lake, María Morán, S. Robb, Gabriel Chow, Caroline A. Sewry, Philip M. Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A. Johnson, David Beeson

    Опубліковано 2015
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  14. 14
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia за авторством Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami

    Опубліковано 2016
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  15. 15
    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 за авторством 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

    Опубліковано 2011
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  16. 16
    Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

    Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta за авторством David Parry, Claire E. L. Smith, Walid El‐Sayed, James A. Poulter, Richard F. Shore, Clare V. Logan, Chihiro Mogi, Kōichi Sato, Fumikazu Okajima, Akihiro Harada, Hong Zhang, Mine Koruyucu, Figen Seymen, Jan C.‐C. Hu, James P. Simmer, Mushtaq Ahmed, Hussain Jafri, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell

    Опубліковано 2016
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  17. 17
    Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

    Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions за авторством Patricia Heyn, Clare V. Logan, Adeline Fluteau, Rachel Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A. Marsh, Francesca Taglini, Fiona Kilanowski, David Parry, Valérie Cormier‐Daire, Chin‐To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P. Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C. Allshire, Martin A.M. Reijns, Andrew Dauber, Duncan Sproul, Andrew P. Jackson

    Опубліковано 2018
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  18. 18
    Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

    Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta за авторством David Parry, Steven J. Brookes, Clare V. Logan, James A. Poulter, Walid El‐Sayed, Suhaila Al‐Bahlani, Sharifa Al-Harasi, Jihad Sayed, El Mostafa Raïf, Richard F. Shore, Mayssoon Dashash, Martin Barron, Joanne Morgan, Ian Carr, Graham R. Taylor, Colin A. Johnson, Michael J. Aldred, Michael J. Dixon, J. Tim Wright, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell

    Опубліковано 2012
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  19. 19
    Mutations in TJP2 cause progressive cholestatic liver disease

    Mutations in TJP2 cause progressive cholestatic liver disease за авторством Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby Clark, David Parry, Clare V. Logan, Lucy J. Newbury, Binita M. Kamath, Simon C. Ling, Tassos Grammatikopoulos, Bart Wagner, John C. Magee, Ronald J. Sokol, Giorgina Mieli‐Vergani, Joshua D. Smith, Colin A. Johnson, Patricia McClean, Michael A. Simpson, Alexander S. Knisely, Laura N. Bull, Richard J. Thompson

    Опубліковано 2014
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  20. 20
    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome за авторством Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas, Dominika Swistun, Sarah Marsh, Julien Bertrand, Sophie Audollent, Tania Attié‐Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al‐Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson

    Опубліковано 2008
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