Search Results - "Floriddia, G"

Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up by Rossi, S., Castiglia, D., Pisaneschi, E., Diociaiuti, A., Stracuzzi, A., Cesario, C., Mariani, R., Floriddia, G., Zambruno, G., Boldrini, R., Abeni, D., Novelli, A., Alaggio, R., El Hachem, M.

“…Background Epidermolysis bullosa (EB) comprises a heterogeneous group of skin fragility disorders, classified in four major types based on skin cleavage level,…”
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Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum by Castori, M, Castiglia, D, Brancati, F, Foglio, M, Heath, S, Floriddia, G, Madonna, S, Fischer, J, Zambruno, G

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Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization by Drera, B, Castiglia, D, Zoppi, N, Gardella, R, Tadini, G, Floriddia, G, De Luca, N, Pedicelli, C, Barlati, S, Zambruno, G, Colombi, M

“…Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB‐Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by…”
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Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement by Castori, M., Madonna, S., Giannetti, L., Floriddia, G., Milioto, M., Amato, S., Castiglia, D.

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Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population by Castori, M., Floriddia, G., De Luca, N., Pascucci, M., Ghirri, P., Boccaletti, V., El Hachem, M., Zambruno, G., Castiglia, D.

“…Summary Background  Herlitz junctional epidermolysis bullosa (HJEB; MIM 226700) is a rare epithelial adhesion disorder caused by null mutations in any of the…”
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Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa by Drera, B., Floriddia, G., Forzano, F., Barlati, S., Zambruno, G., Colombi, M., Castiglia, D.

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Retrospective comparison of qualitative and quantitative reverse transcriptase polymerase chain reaction in diagnosing and monitoring the ALL1-AF4 fusion transcript in patients with acute lymphoblastic leukaemia by ELIA, L, GOTTARDI, E, SAGLIO, G, CIMINO, G, FLORIDDIA, G, GRILLO, R, CIAMBELLI, F, LUCIANI, M, CHIUSOLO, P, INVERNIZZI, R, MELONI, G, FOA, R

“…We compared quantitative reverse transcriptase polymerase chain reaction (Q-RT-PCR) to qualitative RT-PCR in determining response to therapy and predicting…”
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Thyroid Hemiagenesis: Prevalence in Normal Children and Effect on Thyroid Function by Maiorana, Raffaella, Carta, Anna, Floriddia, Giuseppina, Leonardi, Daniela, Buscema, Massimo, Sava, Lidia, Calaciura, Francesca, Vigneri, Riccardo

“…Thyroid hemiagenesis prevalence was studied by neck ultrasound examination in 24,032 unselected 11- to 14-yr-old schoolchildren from southeastern Sicily…”
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COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only by Pruneddu, Sara, Castiglia, Daniele, Floriddia, Giovanna, Cottoni, Francesca, Zambruno, Giovanna

“…Dystrophic epidermolysis bullosa (DEB) is a rare, clinically heterogeneous, blistering genodermatosis inherited as either autosomal dominant or recessive…”
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Two families confirm Schoepf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum by Castori, M, Castiglia, D, Brancati, F, Foglio, M, Heath, S, Floriddia, G, Madonna, S, Fischer, J, Zambruno, G

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Short Report: Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization by Drera, B, Castiglia, D, Zoppi, N, Gardella, R, Tadini, G, Floriddia, G, De Luca, N, Pedicelli, C, Barlati, S, Zambruno, G, Colombi, M

“…Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M. Dystrophic epidermolysis bullosa…”
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In vitro binding of salicylates to saliva proteins by Lange, W E, Floriddia, D G, Pruyn, F J

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Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement by Castori, M, Madonna, S, Giannetti, L, Floriddia, G, Milioto, M, Amato, S, Castiglia, D

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Letter: Nuclear pharmacy procedures by Wilkerson, S V, Gunther, C W, Floriddia, D G

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On a case of bilateral total gonado-mullerian agenesis associated with left renal agenesis and ectopy and dysmorphism of the right kidney by Guadagno, L, Pardini, C, Floriddia, G, Brunori, I

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