Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2013
  2. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

    Czeschik, J. C. , Voigt, C. , Alanay, Y. , Albrecht, B. , Avci, S. , Fitzpatrick, D. , Goudie, D. R. , Hehr, U. , Hoogeboom, A. J. , Kayserili, H. , Simsek-Kiper, P. O. , Klein-Hitpass, L. , Kuechler, A. , López-González, V. , Martin, M. , Rahmann, S. , Schweiger, B. , Splitt, M. , Wollnik, B. , Lüdecke, H-J. & 2 others Zeschnigk, M. & Wieczorek, D. Aug 2013 In : Human Genetics. 132, 8, p. 885-98 14 p.

    Research output: Contribution to journalArticle

  3. Dysmorphology at a distance: results of a web-based diagnostic service

    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. & 20 others 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. & the DYSCERNE expert panel 10 Jul 2013 In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  4. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

    Gerth-Kahlert, C., Williamson, K., Ansari, M., Rainger, J. K., Hingst, V., Zimmermann, T., Tech, S., Guthoff, R. F., van Heyningen, V. & Fitzpatrick, D. R. 1 May 2013 In : Molecular Genetics & Genomic Medicine. 1, 1, p. 15-31 17 p.

    Research output: Contribution to journalArticle

  5. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    Nikkel, S. M. , Dauber, A. , de Munnik, S. , Connolly, M. , Hood, R. L. , Caluseriu, O. , Hurst, J. , Kini, U. , Nowaczyk, M. J. , Afenjar, A. , Albrecht, B. , Allanson, J. E. , Balestri, P. , Ben-Omran, T. , Brancati, F. , Cordeiro, I. , da Cunha, B. S. , Delaney, L. A. , Destrée, A. , Fitzpatrick, D. & 48 others Forzano, F., Ghali, N., Gillies, G., Harwood, K., Hendriks, Y. M., Héron, D., Hoischen, A., Honey, E. M., Hoefsloot, L. H., Ibrahim, J., Jacob, C. M., Kant, S. G., Kim, C. A., Kirk, E. P., Knoers, N. V., Lacombe, D., Lee, C., Lo, I. F., Lucas, L. S., Mari, F., Mericq, V., Moilanen, J. S., Møller, S. T., Moortgat, S., Pilz, D. T., Pope, K., Price, S., Renieri, A., Sá, J., Schoots, J., Silveira, E. L., Simon, M. E., Slavotinek, A., Temple, I. K., van der Burgt, I., de Vries, B. B., Weisfeld-Adams, J. D., Whiteford, M. L., Wierczorek, D., Wit, J. M., Yee, C. F., Beaulieu, C. L., White, S. M., Bulman, D. E., Bongers, E., Brunner, H., Feingold, M. & Boycott, K. M. 27 Apr 2013 In : Orphanet journal of rare diseases. 8, 1, p. 63

    Research output: Contribution to journalArticle

  6. Filling in the gaps in cranial suture biology

    Fitzpatrick, D. R. Mar 2013 In : Nature Genetics. 45, 3, p. 231-232 2 p.

    Research output: Contribution to journalArticle

  7. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

    Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G. & Evans, D. G. Mar 2013 In : Nature Genetics. 45, 3, p. 295-298 4 p.

    Research output: Contribution to journalArticle

  8. 2012
  9. Miller (Gene-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Rainger, J. , Bengani, H. , Campbell, L. , Anderson, E. , Sokhi, K. , Lam, W. , Riess, A. , Ansari, M. , Smithson, S. , Lees, M. , Mercer, C. , McKenzie, K. , Lengfeld, T. , Gener Querol, B. , Branney, P. , McKay, S. , Morrison, H. , Medina, B. , Robertson, M. , Kohlhase, J. & 4 others Gordon, C., Kirk, J., Wieczorek, D. & FitzPatrick, D. R. 15 Sep 2012 In : Human Molecular Genetics. 21, 18, p. 3969-3983 15 p.

    Research output: Contribution to journalArticle

  10. Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

    Allanson, J. , Smith, A. , Hare, H. , Albrecht, B. , Bijlsma, E. , Dallapiccola, B. , Donti, E. , Fitzpatrick, D. , Isidor, B. , Lachlan, K. , Le Caignec, C. , Prontera, P. , Raas-Rothschild, A. , Rogaia, D. , van Bon, B. , Aradhya, S. , Crocker, S. F. , Jarinova, O. , McGowan-Jordan, J. , Boycott, K. & 2 others Bulman, D. & Fagerberg, C. R. Sep 2012 In : American Journal of Medical Genetics Part A. 158A, 9, p. 2091-2099 9 p.

    Research output: Contribution to journalArticle

  11. An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL

    Murray, J. E., Walayat, M., Gillett, P., Sharkey, F. H., Rajan, D., Carter, N. P. & FitzPatrick, D. R. 2012 In : Clinical dysmorphology. 21, 1, p. 22-3 2 p.

    Research output: Contribution to journalArticle

  12. 2011
  13. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Rainger, J. , van Beusekom, E. , Ramsay, J. K. , McKie, L. , Al-Gazali, L. , Pallotta, R. , Saponari, A. , Branney, P. , Fisher, M. , Morrison, H. , Bicknell, L. , Gautier, P. , Perry, P. , Sokhi, K. , Sexton, D. , Bardakjian, T. M. , Schneider, A. S. , Elcioglu, N. , Ozkinay, F. , Koenig, R. & 16 others Mégarbané, A., Semerci, C. N., Khan, A., Zafar, S., Hennekam, R., Sousa, S. B., Ramos, L., Garavelli, L., Furga, A. S., Wischmeijer, A., Jackson, I. J., Gillessen-Kaesbach, G., Brunner, H. G., Wieczorek, D., van Bokhoven, H. & Fitzpatrick, D. R. Jul 2011 In : PLoS Genetics. 7, 7, e1002114

    Research output: Contribution to journalArticle

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