Výsledky vyhledávání - Alexandros Onoufriadis

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  1. 1
    <i>WNT10A</i> , dermatology and dentistry

    <i>WNT10A</i> , dermatology and dentistry Autor Brent J. Doolan, Alexandros Onoufriadis, Piranit Nik Kantaputra, John A. McGrath

    Vydáno 2021
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  2. 2
    Single‐cell transcriptomics in human skin research: available technologies, technical considerations and disease applications

    Single‐cell transcriptomics in human skin research: available technologies, technical considerations and disease applications Autor Georgios Theocharidis, Stavroula Tekkela, Aristidis Veves, John A. McGrath, Alexandros Onoufriadis

    Vydáno 2022
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  3. 3
    Metabolic perturbations in fibrosis disease

    Metabolic perturbations in fibrosis disease Autor Chuin Ying Ung, Alexandros Onoufriadis, Maddy Parsons, John A. McGrath, Tanya J. Shaw

    Vydáno 2021
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  4. 4
    Prevalence, pathophysiology and management of itch in epidermolysis bullosa*

    Prevalence, pathophysiology and management of itch in epidermolysis bullosa* Autor Marieta Papanikolaou, Alexandros Onoufriadis, Jemima E. Mellerio, Leigh Nattkemper, Gil Yosipovitch, Martin Steinhoff, John A. McGrath

    Vydáno 2020
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  5. 5
    Comorbidities of Keloid and Hypertrophic Scars Among Participants in UK Biobank

    Comorbidities of Keloid and Hypertrophic Scars Among Participants in UK Biobank Autor Chuin Ying Ung, Alasdair Warwick, Alexandros Onoufriadis, Juliet N. Barker, Maddy Parsons, John A. McGrath, Tanya J. Shaw, Nick Dand

    Vydáno 2023
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  6. 6
    Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

    Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype Autor Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery

    Vydáno 2011
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  7. 7
    Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis

    Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis Autor Alexandros Onoufriadis, Michael A. Simpson, Andrew Pink, Paola Di Meglio, Catherine Smith, Venu Pullabhatla, Jo Knight, Sarah L. Spain, Frank O. Nestlé, A. David Burden, Francesca Capon, Richard C. Trembath, Juliet N. Barker

    Vydáno 2011
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  8. 8
    Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

    Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11 Autor Amelia Shoemark, Thomas Burgoyne, Robert Kwan, Mellisa Dixon, Mitali Patel, Andrew V. Rogers, Alexandros Onoufriadis, Juliet Scully, Farheen Daudvohra, Thomas Cullup, Michael R. Loebinger, Robert Wilson, Eddie M.K. Chung, Andrew Bush, Hannah M. Mitchison, Claire Hogg

    Vydáno 2018
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  9. 9
    Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals

    Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals Autor Alexandros Onoufriadis, Chao‐Kai Hsu, Chrysanthi Ainali, Chuin Ying Ung, Ellie Rashidghamat, Hsing‐San Yang, Hsin‐Yu Huang, Umar Niazi, Christos Tziotzios, Jui-Chu Yang, Rosamond Nuamah, Ming‐Jer Tang, Alka Saxena, Emanuele de Rinaldis, John A. McGrath

    Vydáno 2018
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  10. 10
    ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation

    ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation Autor Adam Sheriff, Ina Guri, Paulina Żebrowska, Virginia Llopis-Hernández, Imogen Brooks, Stavroula Tekkela, K S Subramaniam, Ruta Gebrezgabher, Gaetano Naso, Anastasia Petrova, Katarzyna Balon, Alexandros Onoufriadis, Dorota Kujawa, Martyna Kotulska, Gregory A. Newby, Łukasz Łaczmański, David R. Liu, John A. McGrath, J. Jackow

    Vydáno 2022
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  11. 11
    Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

    Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia Autor Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E. Dankert-Roelse, Eric G. Haarman, Johannes M.A. Daniels, Richard D. Emes, Robert Wilson, Claire Hogg, Peter Scambler, Eddie M.K. Chung, Gerard Pals, Hannah M. Mitchison

    Vydáno 2012
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  12. 12
    Combined exome and whole-genome sequencing identifies mutations in<i>ARMC4</i>as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

    Combined exome and whole-genome sequencing identifies mutations in<i>ARMC4</i>as a cause of primary ciliary dyskinesia with defects in the outer dynein arm Autor Alexandros Onoufriadis, Amelia Shoemark, Mustafa M. Munye, Chela James, Miriam Schmidts, Mitali Patel, Elisabeth Rosser, Chiara Bacchelli, Philip L. Beales, Peter Scambler, Stephen L. Hart, Jeannette E Danke-Roelse, John J. Sloper, Sarah Hull, Claire Hogg, Richard D. Emes, Gerard Pals, Anthony T. Moore, Eddie M.K. Chung, Hannah M. Mitchison

    Vydáno 2013
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  13. 13
    Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

    Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry Autor Heike Olbrich, Miriam Schmidts, Claudius Werner, Alexandros Onoufriadis, Niki T. Loges, Johanna Raidt, Nóra Fanni Bánki, Amelia Shoemark, Thomas Burgoyne, Saeed Al Turki, Matthew E. Hurles, Gabriele Köhler, Josef Schroeder, Gudrun Nürnberg, Peter Nürnberg, Eddie M.K. Chung, Richard Reinhardt, June K. Marthin, Kim G. Nielsen, Hannah M. Mitchison, Heymut Omran

    Vydáno 2012
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  14. 14
    Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

    Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects Autor Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Mitali Patel, Gina Jimenez, Hui Liu, Biju Thomas, Mellisa Dixon, Robert A. Hirst, A Rutman, Thomas Burgoyne, Christopher Williams, Juliet Scully, F Bolard, Jean‐Jacques Lafitte, Philip L. Beales, Claire Hogg, Pinfen Yang, Eddie M.K. Chung, Richard D. Emes, Christopher O’Callaghan, Patrice Bouvagnet, Hannah M. Mitchison

    Vydáno 2014
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  15. 15
    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Autor Pia Østergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona Connell, Andreas van Impel, Anthony T. Moore, Bart Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Inés Martínez‐Corral, Sophie Devery, Jules G. Leroy, Lut Van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte‐Merker, Taija Mäkinen, Miikka Vikkula, Peter Mortimer, Sahar Mansour, Steve Jeffery

    Vydáno 2012
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  16. 16
    Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

    Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia Autor Sunayna Best, Amelia Shoemark, Bruna Rubbo, Mitali Patel, Mahmoud R. Fassad, Mellisa Dixon, Andrew V. Rogers, Robert A. Hirst, Andrew Rutman, Sarah Ollosson, Claire L. Jackson, Patricia Goggin, Simon Thomas, Reuben J. Pengelly, Thomas Cullup, Eleni Pissaridou, Jane Hayward, Alexandros Onoufriadis, Christopher O’Callaghan, Michael R. Loebinger, Robert Wilson, Eddie M.K. Chung, Priti Kenia, Victoria Doughty, J. S. Carvalho, Jane S. Lucas, Hannah M. Mitchison, Claire Hogg

    Vydáno 2018
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  17. 17
    Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

    Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa Autor Ellie Rashidghamat, Tendai Kadiyirire, Salma Ayis, Gabriela Petrof, Lu Liu, Venu Pullabhatla, Chrysanthi Ainali, Alyson Guy, Sophia Aristodemou, James R. McMillan, Linda Ozoemena, John Mee, Rashida Pramanik, Alka Saxena, Rosamund Nuamah, Emanuele de Rinaldis, Sonia Serrano, Clarisse Maurin, Magdalena Martinez-Queipo, Su M. Lwin, Duško Ilić, Anna E. Martinez, Francesco Dazzi, Ineke Slaper‐Cortenbach, Kasper Westinga, Sabrina Zeddies, Marcel van den Broek, Alexandros Onoufriadis, Jemima E. Mellerio, John A. McGrath

    Vydáno 2019
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  18. 18
    Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study

    Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study Autor Marieta Papanikolaou, Leigh Nattkemper, Natashia Benzian-Olsson, Lu Liu, Alyson Guy, Han Lu, Tendai Kadiyirire, Ping‐Chen Hou, Wilson Aala, Sonia Serrano, Rashida Pramanik, Nina Walters, Konstantina Dimitrakopoulou, Su M. Lwin, Emily Kalfas, Jose Satoc, Roman Laddach, Domenico Cozzetto, Bjorn Thomas, Evangelia Kesidou, Ellie Rashidghamat, Guy Orchard, Edel A. O’Toole, Chao‐Kai Hsu, Mansoor Saqi, Martin Steinhoff, Alexandros Onoufriadis, Gil Yosipovitch, Hannah J. Gould, Jemima E. Mellerio, John A. McGrath

    Vydáno 2024
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  19. 19
    Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

    Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia Autor Daniel Toddie-Moore, Alexandros Onoufriadis, Amelia Shoemark, Michael A. Simpson, Petra I. zur Lage, Sandra C. de Castro, Lucia Bartoloni, Giuseppe Gallone, Stavroula Petridi, Wesley J. Woollard, Dinu Antony, Miriam Schmidts, Teresa Didonna, Periklis Makrythanasis, Jeremy Bevillard, Nigel P. Mongan, Jana Djakow, Gerard Pals, Jane S. Lucas, June K. Marthin, Kim G. Nielsen, Federico Santoni, Michel Guipponi, Claire Hogg, Stylianos E. Antonarakis, Richard D. Emes, Eddie M.K. Chung, Nicholas D. E. Greene, Jean-Louis Blouin, Andrew P. Jarman, Hannah M. Mitchison

    Vydáno 2013
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  20. 20
    Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

    Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms Autor Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, A Dewar, Claire L. Jackson, Patricia Goggin, Niki T. Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W. Leigh, Whitney Wolf, M. Leigh Anne Daniels, Peadar G. Noone, Thomas W. Ferkol, Scott D. Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S. Lucas, Claire Hogg, Peter Scambler, Richard D. Emes, UKK, Eddie M.K. Chung, Amelia Shoemark, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison

    Vydáno 2012
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