Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Autor: FERRANTE M. I, GIORGIO G, FEATHER S. A, BULFONE A, WRIGHT V, GHIANI M, SELICORNI A, GAMMARO L, SCOLARI F, WOOLF A. S, ODENT S, LE MAREC B, MALCOLM S, WINTER R, A, FRANCO, BRUNELLA, BALLABIO, ANDREA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::546841a448c944d29d57bd9136a8d272
http://hdl.handle.net/11588/130645

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

Autor: Feather, S A, Winyard, P J, Dodd, S, Woolf, A S

Publikováno v: Nephrology Dialysis Transplantation; 1997, Vol. 12 Issue 7, p1354-1361, 8p

803. Modified steroid hormones. Part XXIV. 16α,17α-Iso-propylidenedioxy-6α-methylpregn-4-ene-3,20-dione.

Autor: Ellis, B., Hall, S. P., Petrow, V., Waddington-Feather, S.

Publikováno v: Journal of the Chemical Society; 1961, p4111-4116, 6p

EXPRESSION AND POTENTIAL CLINICAL RELEVANCE OF AQUAPORINS IN HUMAN UROTHELIUM

Autor: Rubenwolf, P.C., Clements, L.A., Feather, S., Holland, P., Thomas, D.F.M., Southgate, J.

Publikováno v: In European Urology Supplements 2008 7(3):180-180

Urinary Tract Effects of HPSE2 Mutations

Autor: Stuart, H. M., Roberts, N. A., Hilton, E. N., Mckenzie, E. A., Daly, S. B., Hadfield, K. D., Rahal, J. S., Gardiner, N. J., Tanley, S. W., Lewis, M. A., Sites, E., Angle, B., Alves, C., Lourenço, T., Rodrigues, M., Calado, A., Amado, M., Guerreiro, N., Serras, I., Beetz, C., Varga, R. -E., Silay, M. S., Darlow, J. M., Dobson, M. G., Barton, D. E., Hunziker, M., Puri, P., Feather, S. A., Goodship, J. A., Goodship, T. H. J., Lambert, H. J., Cordell, H. J., Saggar, A., Kinali, M., Lorenz, C, Moeller, K, Schaefer, F, Bayazit, Ak, Weber, S, Newman, Wg, Woolf, As, Beattie, J, Bradbuty, M, Coad, N, Coulthard, M, Cuckow, P, Dossetor, J, Dudley, J, Hughes, D, Feather, S, Fitzpatrick, M, Goodship, Ja, Goodship, Th, Griffin, N, Gullett, Am, Haycock, G, Hodes, D, Houtman, P, Hughes, A, Hulton, S, Hunter, E, Iqbal, J, Inward, C, Jackson, J, Jadresic, L, Jaswon, M, Jones, C, Jones, R, Judd, B, Kier, M, Kilby, A, Lambert, H, Lewis, M, Malcolm, S, Marks, S, Maxwell, H, Mcgraw, M, Milford, D, Moghal, N, O'Connor, M, O'Donoghue, Dj, Ognanovic, M, Plant, N, Postlethwaite, R, Rees, L, Reid, C, Rfidah, E, Rigdon, S, Sandford, R, Savage, M, Scanlan, J, Sinha, S, Stephens, S, Stewart, A, Storr, J, Taheri, S, Taylor, Cm, Tizard, J, Trompeter, R, Tullus, K, Verber, I, Van't Hoff, W, Vernon, S, Verrier-Jones, K, Watson, A, Webb, N, Wilcox, D, Aksu, N, Alpay, H, Anarat, A, Arbeiter, K, Ardissino, Gl, Balat, A, Baskin, E, Bayazit, A, Büscher, R, Cakar, N, Caldas Afonso, A, Caliskan, S, Candan, C, Canpolat, N, Donmez, O, Doyon, A, Drozdz, D, Dusek, J, Duzova, A, Emre, S, Erdogan, H, Feldkötter, M, Fischbach, M, Galiano, G, Haffner, D, Harambat, J, Jankauskiene, A, Jeck, N, John, U, Jungraithmair, T, Kemper, M, Kiyak, A, Kracht, D, Kranz, B, Laube, G, Litwin, M, Matteucci, Cm, Montini, G, Melk, A, Mir, S, Niemirska, A, Peco-Antic, A, Ozcelik, G, Pelan, E, Picca, S, Pohl, M, Querfeld, U, Ranchin, B, Shroff, R, Simonetti, G, Sözeri, B, Soylemezoglu, O, Tabel, Y, Testa, S, Trivelli, A, Vidal, E, Wigger, M, Wühl, E, Wygoda, S, Yalcinkaya, F, Yilmaz, E, Zeller, R, Zurowska, Am.

Publikováno v: Europe PubMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

PubMedID: 25145936 Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4796319029029e10fd14a07767d3d461
http://europepmc.org/abstract/med/25145936