The PROCLIPI international registry of early-stage mycosis fungoides identifies substantial diagnostic delay in most patients

Autor: J.J. Scarisbrick, P. Quaglino, H.M. Prince, E. Papadavid, E. Hodak, M. Bagot, O. Servitje, E. Berti, P. Ortiz‐Romero, R. Stadler, A. Patsatsi, R. Knobler, E. Guenova, F. Child, S. Whittaker, V. Nikolaou, C. Tomasini, I. Amitay, H. Prag Naveh, C. Ram‐Wolff, M Battistella, S. Alberti‐Violetti, R. Stranzenbach, V. Gargallo, C. Muniesa, T. Koletsa, C. Jonak, S. Porkert, C. Mitteldorf, T. Estrach, A. Combalia, M. Marschalko, J. Csomor, A. Szepesi, A. Cozzio, R. Dummer, N. Pimpinelli, V. Grandi, M. Beylot‐Barry, A. Pham‐Ledard, M. Wobser, E. Geissinger, U. Wehkamp, M. Weichenthal, R. Cowan, E. Parry, J. Harris, R. Wachsmuth, D. Turner, A. Bates, E. Healy, F. Trautinger, J. Latzka, J. Yoo, B. Vydianath, R. Amel‐Kashipaz, L. Marinos, A. Oikonomidi, A. Stratigos, M.‐D. Vignon‐Pennamen, M. Battistella, F. Climent, E. Gonzalez‐Barca, E. Georgiou, R. Senetta, P. Zinzani, L. Vakeva, A. Ranki, A.‐M. Busschots, E. Hauben, A. Bervoets, F.J.S.H. Woei‐A‐Jin, R. Matin, G. Collins, S. Weatherhead, J. Frew, M. Bayne, G. Dunnill, P. McKay, A. Arumainathan, R. Azurdia, K. Benstead, R. Twigger, K. Rieger, R. Brown, J.A. Sanches, D. Miyashiro, O. Akilov, S. McCann, H. Sahi, F.M. Damasco, C. Querfeld, A. Folkes, C. Bur, C.‐D. Klemke, P. Enz, R. Pujol, K. Quint, L. Geskin, E. Hong, F. Evison, M. Vermeer, L. Cerroni, W. Kempf, Y. Kim, R. Willemze

Publikováno v: British journal of dermatology

Background Survival in mycosis fungoides (MF) is varied and may be poor. The PROCLIPI (PROspective Cutaneous Lymphoma International Prognostic Index) study is a web‐based data collection system for early‐stage MF with legal data‐sharing agreeme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d47836f6e5f7a5312eda8c97943f63f2
http://hdl.handle.net/2318/1717359

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Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa

Autor: G H, Ashton, J E, Mellerio, M G, Dunnill, G, Milana, B J, Mayou, J, Carrera, J A, McGrath, R A, Eady

Publikováno v: Clinical and experimental dermatology. 24(3)

In this study we searched for mutations in the type VII collagen gene (COL7A1) in 10 families from Southern Italy with severe generalised recessive dystrophic epidermolysis bullosa using PCR amplification of genomic DNA, heteroduplex analysis and dir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e48cd2ad981cca62259af7be88dadbf4
https://pubmed.ncbi.nlm.nih.gov/10354186

A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele

Autor: G H, Ashton, J E, Mellerio, M G, Dunnill, L, Pulkkinen, A M, Christiano, J, Uitto, R A, Eady, J A, McGrath

Publikováno v: The British journal of dermatology. 136(5)

The three genes (LAMA3, LAB3 and LAMC2) that encode the anchoring filament protein, laminin 5, may all harbour pathogenetic mutations in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa (JEB). Recently, one particula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::891ceeec39468c80f852c2811d921e23
https://pubmed.ncbi.nlm.nih.gov/9205497

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