Zobrazeno 1 - 10
of 188
pro vyhledávání: '"Hurst JA"'
Autor:
Evers, JMG, Laskowski, RA, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, JA, Kingston, H, Kini, U, Lampe, AK, Lim, D, Male, A, Naik, S, Parker, MJ, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, JM, DDD Study, Wright, CF
Publikováno v:
Human Molecular Genetics
Evers, J M G, Laskowski, R A, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, J A, Kingston, H, Kini, U, Lampe, A K, Lim, D, Male, A, Naik, S, Parker, M J, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, J M, The DDD Study & Wright, C F 2017, ' Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders ', Human Molecular Genetics, vol. 26, no. 3, pp. 519-526 . https://doi.org/10.1093/hmg/ddw409
Evers, J M G, Laskowski, R A, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, J A, Kingston, H, Kini, U, Lampe, A K, Lim, D, Male, A, Naik, S, Parker, M J, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, J M, The DDD Study & Wright, C F 2017, ' Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders ', Human Molecular Genetics, vol. 26, no. 3, pp. 519-526 . https://doi.org/10.1093/hmg/ddw409
Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mu
Autor:
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Pérez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA
Publikováno v:
NATURE GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2704902d0305fbe3d8dc66d2b7cbf736
https://www.repository.cam.ac.uk/handle/1810/296243
https://www.repository.cam.ac.uk/handle/1810/296243
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
Autor:
Goos, Jacqueline, Swagemakers, Sigrid, Twigg, SRF, van Dooren, Marieke, Hoogeboom, Jeannette, Beetz, C, Gunther, S, Magielsen, Frank, Ockeloen, C W, Ramos-Arroyo, MA, Pfundt, R, Yntema, HG, Spek, PJ, Stanier, P, Wieczorek, D, Wilkie, AOM, van den Ouweland, AMW, Mathijssen, IMJ, Hurst, JA
Publikováno v:
European Journal of Human Genetics, 25(10), 1126-1133. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::0ff1e35b5ddf8fe406ff7a6d9583776c
https://pure.eur.nl/en/publications/61abda38-10fc-4ff6-aebf-b10f71797945
https://pure.eur.nl/en/publications/61abda38-10fc-4ff6-aebf-b10f71797945
Autor:
Bendon, CL, Fenwick, AL, Hurst, JA, Nürnberg, G, Nürnberg, P, Wall, SA, Wilkie, AO, Johnson, D
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 104 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 104 (2012)
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 to be a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::635dde9fd3124c6b4a3074da0b2b8699
https://ora.ox.ac.uk/objects/uuid:645a3784-0052-4241-bff7-67d990c994bd
https://ora.ox.ac.uk/objects/uuid:645a3784-0052-4241-bff7-67d990c994bd
Autor:
Nicholls P (AUTHOR), Hurst JA (AUTHOR)
Publikováno v:
Searcher (1070-4795). Nov/Dec2003, Vol. 11 Issue 10, p55-59. 5p.
Autor:
Hurst JA (AUTHOR), Oldenkamp DM (AUTHOR)
Publikováno v:
Searcher (1070-4795). Feb2003, Vol. 11 Issue 2, p72-78. 7p.
Autor:
Hurst JA (AUTHOR)
Publikováno v:
Searcher (1070-4795). Jul/Aug2002, Vol. 10 Issue 7, p72-75. 4p.
Autor:
Hurst JA (AUTHOR)
Publikováno v:
Searcher (1070-4795). Jul/Aug2001, Vol. 9 Issue 7, p58-64. 7p.