Adult PFAPA - a single centre experience

por Donnelly, O, Youngstein, T, Pepper, R, Rowczenio, D, Hawkins, P, Lachmann, H
Publicado 2015

Calprotectin (S100A8/A9) in Familial Mediterranean Fever

por Pepper, R, Hutchinson, M, Henderson, S, Rowczenio, D, Hawkins, P, Lachmann, H
Publicado 2015

P02-015 - A novel MVK mutation in a child with AA amyloid

por Kolsky, A, Rowczenio, D, Lachmann, H, Vernerova, Z, Votava, F, Dolezalova, P
Publicado 2013

PW03-021 - HSCT in mevalonate kinase deficiency

por Wolska-Kuśnierz, B, Mikołuć, B, Motkowski, R, Kałwak, K, Bernatowska, E, Rowczenio, D
Publicado 2013

PReS-FINAL-2239: Renal AA amyloidosis in a child with hyper-IgD syndrome and a novel MVK mutation

por Fingerhutova, S, Kolsky, A, Rowczenio, D, Lachmann, H, Vernerova, Z, Votava, F, Dolezalova, P
Publicado 2013

First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene

por Rowczenio, D, Omoyinmi, E, Trojer, H, Lane, T, Brogan, P, Hawkins, P, Lachmann, H
Publicado 2015

Clinical symptoms and molecular investigations in 13 patients with Schnitzler syndrome identified at the single UK centre

por Rowczenio, D, Trojer, H, Baginska, A, Gillmore, J, Wechalekar, A, Hawkins, P, Lachmann, H
Publicado 2015

Diagnostic value of fat aspirates for amyloidosis in 950 patients

por Gilbertson, JA, Botcher, NA, Rowczenio, D, Whelan, C, Lachmann, HJ, Wechalekar, A, Gillmore, JD, Hawkins, PN
Publicado 2015

PW03-030 – Collecting patients data to inform genetic studies

por Bybee, AK, Aslam, F, Majdoub, E, Rowczenio, D, Baginkska, A, Al-Nackkash, R, Taylor, W, Hawkins, P, Lachmann, H
Publicado 2013

Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and ge...

por Rowczenio, D, Iancu, D, Trojer, H, Gilbertson, J, Gillmore, J, Wechalekar, A, Tekman, M, Stanescu, H, Kleta, R, Lane, T, Hawkins, P, Lachmann, H
Publicado 2015

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

por Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P
Publicado 2015

International experience of pregnancy outcomes in auto-inflammatory syndromes treated with Interleukin-1 inhibitors

por Youngstein, T, Hoffmann, P, Lane, T, Williams, R, Rowczenio, D, Ozdogan, H, Urgurlu, S, Ryan, J, Harty, L, Riminton, S, Headley, A, Roesler, J, Blank, N, Michler, C, Simon, A, Hawkins, P, Lachmann, H
Publicado 2015

Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient

por McColgan, P., Viegas, S., Gandhi, S., Bull, K., Tudor, R., Sheikh, F., Pinney, J., Fontana, M., Rowczenio, D., Gillmore, J. D., Gilbertson, J. A., Whelan, C. J., Shah, S., Jaunmuktane, Z., Holton, J. L., Schott, J. M., Werring, D. J., Hawkins, P. N., Reilly, M. M.
Publicado 2014

Guidelines for the genetic diagnosis of hereditary recurrent fevers

por Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I
Publicado 2012