Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Wilkie, Andrew OM."'
Autor:
Wood, Katherine A., Tong, R Spencer, Motta, Marialetizia, Cordeddu, Viviana, Scimone, Eleanor R., Bush, Stephen J., Maxwell, Dale W., Giannoulatou, Eleni, Caputo, Viviana, Traversa, Alice, Mancini, Cecilia, Ferrero, Giovanni B., Benedicenti, Francesco, Grammatico, Paola, Melis, Daniela, Steindl, Katharina, Brunetti-Pierri, Nicola, Trevisson, Eva, Wilkie, Andrew OM., Lin, Angela E., Cormier-Daire, Valerie, Twigg, Stephen RF., Tartaglia, Marco, Goriely, Anne
Publikováno v:
In The American Journal of Human Genetics 5 September 2024 111(9):1953-1969
Autor:
Bendon Charlotte L, Fenwick Aimée L, Hurst Jane A, Nürnberg Gudrun, Nürnberg Peter, Wall Steven A, Wilkie Andrew OM, Johnson David
Publikováno v:
BMC Medical Genetics, Vol 13, Iss 1, p 104 (2012)
Abstract Background Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears
Externí odkaz:
https://doaj.org/article/bd4b8b478c5d4918a850bf2b9447202c
Publikováno v:
BMC Medical Genetics, Vol 12, Iss 1, p 122 (2011)
Abstract Background Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively)
Externí odkaz:
https://doaj.org/article/7a7e0d340a4e43319e62bc87459dcf76
Autor:
Twigg, Stephen RF, Hufnagel, Robert B, Miller, Kerry A, Zhou, Yan, McGowan, Simon J, Taylor, John, Craft, Jude, Taylor, Jenny C, Santoro, Stephanie L, Huang, Taosheng, Hopkin, Robert J, Brady, Angela F, Clayton-Smith, Jill, Clericuzio, Carol L, Grange, Dorothy K, Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I Karen, Dobyns, William B, Curry, Cynthia J, Jones, Marilyn C, Wilkie, Andrew OM
Publikováno v:
Twigg, S R F, Hufnagel, R B, Miller, K A, Zhou, Y, McGowan, S J, Taylor, J, Craft, J, Taylor, J C, Santoro, S L, Huang, T, Hopkin, R J, Brady, A F, Clayton-Smith, J, Clericuzio, C L, Grange, D K, Groesser, L, Hafner, C, Horn, D, Temple, I K, Dobyns, W B, Curry, C J, Jones, M C & Wilkie, A O M 2016, ' A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome ', American Journal of Human Genetics, vol. 98, no. 6, pp. 1256-1265 . https://doi.org/10.1016/j.ajhg.2016.04.007
American journal of human genetics, vol 98, iss 6
American journal of human genetics, vol 98, iss 6
Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or ham
Autor:
Williamson, Kathleen A, Rainger, Joe, Floyd, James AB, Ansari, Morad, Meynert, Alison, Aldridge, Kishan V, Rainger, Jacqueline K, Anderson, Carl A, Moore, Anthony T, Hurles, Matthew E, Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S, Wilkie, Andrew OM, UK10K Consortium, Fitzpatrick, David R
Publikováno v:
American journal of human genetics, vol 94, iss 2
Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozygous nonsense mutations (c.370C>T [p.Arg124*] and c. 1066G>T [p.Glu356*]) in YAP1. The ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::4faa9a08e332c3836a44d0ecc53c5e92
https://escholarship.org/uc/item/2v772101
https://escholarship.org/uc/item/2v772101
Autor:
Fennell, Nathalie, Foulds, Nicola, Johnson, Diana S, Wilson, Louise C, Wyatt, Michelle, Robertson, Stephen P, Johnson, David, Wall, Steven A, Wilkie, Andrew OM
Publikováno v:
European Journal of Human Genetics; Dec2015, Vol. 23 Issue 12, p1684-1688, 5p
Autor:
Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
Publikováno v:
European Journal of Human Genetics: EJHG; June 2017, Vol. 25 Issue: 6 p680-686, 7p
Autor:
Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl AZ, Kwasniewska, Alexandra, Davies, Wayne IL, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew OM, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H
Publikováno v:
European Journal of Human Genetics; Mar2013, Vol. 21 Issue 3, p274-280, 7p, 1 Diagram, 3 Charts, 2 Graphs
Autor:
Lim, Jasmine, Goriely, Anne, Turner, Gareth DH, Ewen, Katherine A, Jacobsen, Grete Krag, Graem, Niels, Wilkie, Andrew OM, Rajpert-De Meyts, Ewa
Publikováno v:
Journal of Pathology; Aug2011, Vol. 224 Issue 4, p473-483, 11p
Autor:
Hurst, Jane A., Jenkins, Dagan, Vasudevan, Pradeep C., Kirchhoff, Maria, Skovby, Flemming, Rieubland, Claudine, Gallati, Sabina, Rittinger, Olaf, Kroisel, Peter M., Johnson, David, Biesecker, Leslie G., Wilkie, Andrew OM
Publikováno v:
European Journal of Human Genetics; Jul2011, Vol. 19 Issue 7, p757-762, 6p, 1 Color Photograph, 1 Chart, 1 Graph