1. A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. Issue 7 (20th May 2016) Authors: Numata, Sanae; Teye, Kwesi; Krol, Rafal P.; Okamatsu, Yuki; Hashikawa, Keiko; Matsuda, Mitsuhiro; Fortugno, Paola; Di Zenzo, Giovanni; Castiglia, Daniele; Zambruno, Giovanna; Hamada, Takahiro; Hashimoto, Takashi Journal: Experimental dermatology Issue: Volume 25:Issue 7(2016) Page Start: 568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Betapapillomavirus in multiple non‐melanoma skin cancers of Netherton syndrome: Case report and published work review. Issue 8 (28th April 2015) Authors: Guerra, Liliana; Fortugno, Paola; Sinistro, Anna; Proto, Vittoria; Zambruno, Giovanna; Didona, Biagio; Castiglia, Daniele Journal: Journal of dermatology Issue: Volume 42:Issue 8(2015) Page Start: 786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diabetes impairs adipose tissue–derived stem cell function and efficiency in promoting wound healing. Issue 4 (29th April 2013) Authors: Cianfarani, Francesca; Toietta, Gabriele; Di Rocco, Giuliana; Cesareo, Eleonora; Zambruno, Giovanna; Odorisio, Teresa Journal: Wound repair and regeneration Issue: Volume 21:Issue 4(2013) Page Start: 545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. Issue 9 (21st June 2011) Authors: Pacho, Frederic; Zambruno, Giovanna; Calabresi, Valentina; Kiritsi, Dimitra; Schneider, Holm Journal: Journal of medical genetics Issue: Volume 48:Issue 9(2011) Page Start: 640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Endothelial cell adhesion to soluble vascular endothelial growth factor receptor‐1 triggers a cell dynamic and angiogenic phenotype. Issue 2 (30th October 2013) Authors: Orecchia, Angela; Mettouchi, Amel; Uva, Paolo; Simon, Glenn C.; Arcelli, Diego; Avitabile, Simona; Ragone, Gianluca; Meneguzzi, Guerrino; Pfenninger, Karl H.; Zambruno, Giovanna; Failla, Cristina Maria Journal: FASEB journal Issue: Volume 28:Issue 2(2014) Page Start: 692 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene. Issue 6 (5th April 2021) Authors: Agolini, Emanuele; Botta, Elena; Lodi, Mariachiara; Digilio, Maria Cristina; Rinelli, Martina; Bellacchio, Emanuele; Alesi, Viola; Nardo, Tiziana; Zambruno, Giovanna; Orioli, Donata; Alessi, Iside; Boccuto, Luigi; Rossi, Sabrina; Carai, Andrea; Colafati, Giovanna Stefania; Cacchione, Antonella; D... Journal: Clinical genetics Issue: Volume 99:Issue 6(2021) Page Start: 842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe. Issue 2 (19th January 2020) Authors: Diociaiuti, Andrea; Giancristoforo, Simona; Pisaneschi, Elisa; Condorelli, Angelo Giuseppe; Boldrini, Renata; Zambruno, Giovanna; El Hachem, May Journal: Pediatric dermatology Issue: Volume 37:Issue 2(2020) Page Start: 393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5. Issue 4 (17th January 2013) Authors: Diociaiuti, Andrea; Castiglia, Daniele; Fortugno, Paola; Bartuli, Andrea; Pascucci, Monica; Zambruno, Giovanna; El Hachem, May Journal: Pediatric dermatology Issue: Volume 30:Issue 4(2013) Page Start: e65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Local anesthesia in pediatric dermatologic surgery: Evaluation of a patient‐centered approach. Issue 1 (15th December 2017) Authors: El Hachem, May; Carnevale, Claudia; Diociaiuti, Andrea; Ranieri, Cristiana De; Giancristoforo, Simona; Zambruno, Giovanna; Ciofi Degli Atti, Marta L. Journal: Pediatric dermatology Issue: Volume 35:Issue 1(2018) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. (5th March 2014) Authors: Odorisio, Teresa; Di Salvio, Michela; Orecchia, Angela; Di Zenzo, Giovanni; Piccinni, Eugenia; Cianfarani, Francesca; Travaglione, Antonella; Uva, Paolo; Bellei, Barbara; Conti, Andrea; Zambruno, Giovanna; Castiglia, Daniele Journal: Human molecular genetics Issue: Volume 23:Number 15(2014:Aug. 01) Page Start: 3907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗