Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Brueton L"'
Autor:
Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D'Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L.G., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O'Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweier, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Shanrif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E., The Deciphering Developmental Disorders Study, .
Publikováno v:
Nature
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4849ed517dde51d5c721a6a7dd24d51c
The SMAD-binding domain of SKI: A hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS) and Loeys-Diet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::75d5ce1c83cc22d0cebdc379384965ab
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087936
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087936
Autor:
Bon, B.W.M. van, Koolen, D.A., Brueton, L., McMullan, D., Lichtenbelt, K.D., Ades, L.C., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Bernardina, B. Dalla, Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., Brouwer, A.P.M. de, Veltman, J.A., Leeuw, N. de, Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C, Brunner, H.G., Zuffardi, O., Vries, L.B.A. de
Publikováno v:
European Journal of Human Genetics, 18, 2, pp. 163-70
European Journal of Human Genetics, 18, 163-70
European Journal of Human Genetics, 18, 163-70
Contains fulltext : 89008.pdf (Publisher’s version ) (Closed access) Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, sugges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325b0cdd6d84618af6b2d3e913c1aae8
https://hdl.handle.net/11368/3112
https://hdl.handle.net/11368/3112
Autor:
Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K, Amiel, J, Baraitser, M, Brueton, L, Brunner, H, Chrzanowska, K, Dallapiccola, B, Del Campo Casanelles, M, Devriendt, K, Donnai, D, Fitzpatrick, D, Gillessen-Kaesbach, G, Houge, G, Kerr, B, Krajewska-Walasek, M, Lacombe, D, Meinecke, P, Metcalfe, K, Mortier, G, Odent, S, Philip, N, Prescott, T, Raas-Rothschild, A, Rauch, A, Rittinger, O, Salonen, R, Schrander-Stumpel, C, Suri, M, Temple, K, Tolmie, J, Van Der Burgt, I, Verloes, A, Wieczorek, D, Zenker, M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::b70975ee3de4cf152f88d4b14d5b7a2e
https://www.zora.uzh.ch/id/eprint/88190/
https://www.zora.uzh.ch/id/eprint/88190/
Autor:
Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muxf1oz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H.
Publikováno v:
Hum. Mutat. (2010) Feb; 31(2):113-26..
Autor:
Vogt, J, Morgan, N, Harrison, B, Rehal, P, Brueton, L, McKeown, C, Oley, C, Beeson, D, MacDonald, F, Maher, E
Publikováno v:
JOURNAL OF MEDICAL GENETICS. 45
Autor:
Ryan, AK, Goodship, JA, Wilson, DI, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, FL, ClaytonSmith, J, Hatchwell, E, McKeown, C, Beemer, FA, Dallapiccola, B, Novelli, G, Hurst, JA, Ignatius, J, Green, AJ, Brueton, L, BrondumNielsen, K, Stewart, F, VanEssen, T, Patton, M, Paterson, J, Scambler, PJ
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 34(10), 798-804. BMJ PUBLISHING GROUP
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::5a33ab43b47e853502632da6f6b8ce8f
https://research.rug.nl/en/publications/55e09604-1ba2-430a-93dc-4a3b3116763b
https://research.rug.nl/en/publications/55e09604-1ba2-430a-93dc-4a3b3116763b
Autor:
van Herwerden, L., Rose, C. S., Reardon, W., Brueton, L. A., Weissenbach, J., Malcolm, S., Winter, R. M.
Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::98fbb3b8f988e0b6cc5eebb32e533c52
https://europepmc.org/articles/PMC1918100/
https://europepmc.org/articles/PMC1918100/
Publikováno v:
In Journal of Plastic, Reconstructive & Aesthetic Surgery 2007 60(4):440-442
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