Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Smith, Claire E.L."'
Autor:
Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F.
Publikováno v:
In Ophthalmology January 2023 130(1):68-76
Autor:
de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.
Publikováno v:
In The American Journal of Human Genetics 5 November 2020 107(5):802-814
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Autor:
Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Publikováno v:
In The American Journal of Human Genetics 1 October 2015 97(4):535-545
Autor:
Yahya, Samar1,2 (AUTHOR), Smith, Claire E.L.1 (AUTHOR), Poulter, James A.1 (AUTHOR), McKibbin, Martin1,3 (AUTHOR), Arno, Gavin4 (AUTHOR), Ellingford, Jamie5 (AUTHOR), Kämpjärvi, Kati6 (AUTHOR), Khan, Muhammad I.7,8 (AUTHOR), Cremers, Frans P.M.7,8 (AUTHOR), Hardcastle, Alison J.4 (AUTHOR), Castle, Bruce9 (AUTHOR), Steel, David H.W.1,10,11 (AUTHOR), Webster, Andrew R.4 (AUTHOR), Black, Graeme C.5,12 (AUTHOR), El-Asrag, Mohammed E.1,13,14 (AUTHOR), Ali, Manir1 (AUTHOR), Toomes, Carmel1 (AUTHOR), Inglehearn, Chris F.1 (AUTHOR) c.inglehearn@leeds.ac.uk
Publikováno v:
Ophthalmology. Jan2023, Vol. 130 Issue 1, p68-76. 9p.
Autor:
Inglehearn, Chris F., Yahya, Samar, Smith, Claire E.L., Poulter, James A., Ali, Manir, Toomes, Carmel, Ellingford, Jamie, Black, Graeme C., Arno, Gavin, Webster, Andrew R.
Publikováno v:
In Ophthalmology March 2023 130(3):e9-e10
Autor:
Brookes, Steven J., Barron, Martin J., Smith, Claire E.L., Poulter, James A., Mighell, Alan J., Inglehearn, Chris F., Brown, Catriona J., Rodd, Helen, Kirkham, Jennifer, Dixon, Michael J.
Publikováno v:
Brookes, S J, Barron, M J, Smith, C E L, Poulter, J A, Mighell, A J, Inglehearn, C F, Brown, C J, Rodd, H, Kirkham, J & Dixon, M J 2017, ' Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ', Human Molecular Genetics, vol. 26, no. 10, pp. 1863-1876 . https://doi.org/10.1093/hmg/ddx090
Human Molecular Genetics
Human Molecular Genetics
'Amelogenesis imperfecta' (AI) describes a group of inherited diseases of dental enamel that have major clinical impact. Here, we identify the aetiology driving AI in mice carrying a p.S55I mutation in enamelin; one of the most commonly mutated prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::126fedc89235f2b5af155417c9c6bc0e
https://doi.org/10.1093/hmg/ddx090
https://doi.org/10.1093/hmg/ddx090
Autor:
Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Publikováno v:
In The American Journal of Human Genetics 6 October 2016 99(4):984-990
Autor:
Nikolopoulos, Georgios, Smith, Claire E.L., Brookes, Steven J., El‐Asrag, Mohammed E., Brown, Catriona J., Patel, Anesha, Murillo, Gina, O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Publikováno v:
Clinical Genetics; May2020, Vol. 97 Issue 5, p688-695, 8p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram