Works by Castiglia, Daniele

Results: 63

MicroRNA-155 targets the SKI gene in human melanoma cell lines.

Published in:

Pigment Cell & Melanoma Research, 2011, v. 24, n. 3, p. 538, doi. 10.1111/j.1755-148X.2011.00857.x

By:

Levati, Lauretta;
Pagani, Elena;
Romani, Sveva;
Castiglia, Daniele;
Piccinni, Eugenia;
Covaciu, Claudia;
Caporaso, Patrizia;
Bondanza, Sergio;
Antonetti, Francesca R.;
Bonmassar, Enzo;
Martelli, Fabio;
Alvino, Ester;
D'Atri, Stefania

Publication type:

Article

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Published in:

2019

By:

Guerrero-Aspizua, Sara;
Conti, Claudio J.;
Escamez, Maria Jose;
Castiglia, Daniele;
Zambruno, Giovanna;
Youssefian, Leila;
Vahidnezhad, Hassan;
Requena, Luis;
Itin, Peter;
Tadini, Gianluca;
Yordanova, Ivelina;
Martin, Ludovic;
Uitto, Jouni;
Has, Cristina;
Del Rio, Marcela

Publication type:

journal article

Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response.

Published in:

Biomedicines, 2023, v. 11, n. 1, p. 202, doi. 10.3390/biomedicines11010202

By:

Scala, Enrico;
Madonna, Stefania;
Castiglia, Daniele;
Scala, Alessandro;
Caprini, Elisabetta;
Paganelli, Roberto

Publication type:

Article

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 311, doi. 10.1038/jhg.2012.22

By:

Fortugno, Paola;
Grosso, Fabiana;
Zambruno, Giovanna;
Pastore, Serena;
Faletra, Flavio;
Castiglia, Daniele

Publication type:

Article

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18

By:

Colombo, Elisa Adele;
Fontana, Laura;
Roversi, Gaia;
Negri, Gloria;
Castiglia, Daniele;
Paradisi, Mauro;
Zambruno, Giovanna;
Larizza, Lidia

Publication type:

Article

Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway.

Published in:

Journal of Biomedical Science, 2021, v. 28, n. 1, p. 1, doi. 10.1186/s12929-021-00732-8

By:

Condorelli, Angelo Giuseppe;
El Hachem, May;
Zambruno, Giovanna;
Nystrom, Alexander;
Candi, Eleonora;
Castiglia, Daniele

Publication type:

Article

Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.

Published in:

Archives of Dermatological Research, 2014, v. 306, n. 4, p. 405, doi. 10.1007/s00403-013-1421-y

By:

Ben Brick, Ahlem;
Laroussi, Nadia;
Mesrati, Hela;
Kefi, Rym;
Bchetnia, Mbarka;
Lasram, Khaled;
Ben Halim, Nizar;
Romdhane, Lilia;
Ouragini, Houyem;
Marrakchi, Salaheddine;
Boubaker, Mohamed;
Meddeb Cherif, Mounira;
Castiglia, Daniele;
Hovnanian, Alain;
Abdelhak, Sonia;
Turki, Hamida

Publication type:

Article

COL7A1 Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only.

Published in:

Dermatology (10188665), 2011, v. 222, n. 1, p. 10, doi. 10.1159/000322619

By:

Pruneddu, Sara;
Castiglia, Daniele;
Floriddia, Giovanna;
Cottoni, Francesca;
Zambruno, Giovanna

Publication type:

Article

RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2535, doi. 10.1093/hmg/ddac046

By:

Fortugno, Paola;
Monetta, Rosanna;
Belli, Manuel;
Botti, Elisabetta;
Angelucci, Francesco;
Palmerini, Maria Grazia;
Nottola, Stefania Annarita;
Luca, Chiara De;
Ceccarini, Marina;
Salvatore, Marco;
Bianchi, Luca;
Macioce, Pompeo;
Teson, Massimo;
Ricci, Francesco;
Network, Italian Undiagnosed Diseases;
Macchiarelli, Guido;
Didona, Biagio;
Costanzo, Antonio;
Castiglia, Daniele;
Brancati, Francesco

Publication type:

Article

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.

Published in:

2022

By:

Diociaiuti, Andrea;
Caruso, Roberta;
Ricci, Silvia;
De Vito, Rita;
Strocchio, Luisa;
Castiglia, Daniele;
Zambruno, Giovanna;
El Hachem, May

Publication type:

Case Study

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.

Published in:

Genes, 2021, v. 12, n. 5, p. 716, doi. 10.3390/genes12050716

By:

Castiglia, Daniele;
Fortugno, Paola;
Condorelli, Angelo Giuseppe;
Barresi, Sabina;
De Luca, Naomi;
Pizzi, Simone;
Neri, Iria;
Graziano, Claudio;
Trojan, Diletta;
Ponzin, Diego;
Rossi, Sabrina;
Zambruno, Giovanna;
Tartaglia, Marco;
Fischer, Judith

Publication type:

Article

A Novel LAMA3 Mutation in a Newborn with Junctional Epidermolysis Bullosa Herlitz Type.

Published in:

Neonatology (16617800), 2011, v. 99, n. 3, p. 188, doi. 10.1159/000314076

By:

Mazzucchelli, Iolanda;
Garofoli, Francesca;
Decembrino, Lidia;
Castiglia, Daniele;
Tadini, Gianluca;
Bellingeri, Andrea;
Borghesi, Alessandro;
Tzialla, Chryssoula;
Manzoni, Paolo;
Stronati, Mauro

Publication type:

Article

Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2146, doi. 10.1038/jid.2014.119

By:

Fortugno, Paola;
Josselin, Emmanuelle;
Tsiakas, Konstantinos;
Agolini, Emanuele;
Cestra, Gianluca;
Teson, Massimo;
Santer, René;
Castiglia, Daniele;
Novelli, Giuseppe;
Dallapiccola, Bruno;
Kurth, Ingo;
Lopez, Marc;
Zambruno, Giovanna;
Brancati, Francesco

Publication type:

Article

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7707, doi. 10.3390/ijms21207707

By:

Diociaiuti, Andrea;
Castiglia, Daniele;
Corbeddu, Marialuisa;
Rotunno, Roberta;
Rossi, Sabrina;
Pisaneschi, Elisa;
Cesario, Claudia;
Condorelli, Angelo Giuseppe;
Zambruno, Giovanna;
El Hachem, May

Publication type:

Article

Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1426, doi. 10.3390/ijms21041426

By:

Fortugno, Paola;
Condorelli, Angelo Giuseppe;
Dellambra, Elena;
Guerra, Liliana;
Cianfarani, Francesca;
Tinaburri, Lavinia;
Proto, Vittoria;
De Luca, Naomi;
Passarelli, Francesca;
Ricci, Francesca;
Zambruno, Giovanna;
Castiglia, Daniele

Publication type:

Article

Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 22, p. 5707, doi. 10.3390/ijms20225707

By:

Condorelli, Angelo Giuseppe;
Dellambra, Elena;
Logli, Elena;
Zambruno, Giovanna;
Castiglia, Daniele

Publication type:

Article

Ichthyosis with confetti: clinics, molecular genetics and management.

Published in:

2015

By:

Guerra, Liliana;
Diociaiuti, Andrea;
El Hachem, May;
Castiglia, Daniele;
Zambruno, Giovanna

Publication type:

journal article

Impaired Keratinocyte Proliferative and Clonogenic Potential in Transgenic Mice Overexpressing 14-3-3σ in the Epidermis.

Published in:

Journal of Investigative Dermatology, 2011, v. 131, n. 9, p. 1821, doi. 10.1038/jid.2011.137

By:

Cianfarani, Francesca;
Bernardini, Silvia;
De Luca, Naomi;
Dellambra, Elena;
Tatangelo, Laura;
Tiveron, Cecilia;
Niessen, Carien M;
Zambruno, Giovanna;
Castiglia, Daniele;
Odorisio, Teresa

Publication type:

Article

Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1 Gene.

Published in:

Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1776, doi. 10.1038/sj.jid.5700339

By:

Has, Cristina;
Wessagowit, Vesarat;
Pascucci, Monica;
Baer, Corinna;
Didona, Biagio;
Wilhelm, Christian;
Pedicelli, Cristina;
Locatelli, Andrea;
Kohlhase, Jürgen;
Ashton, Gabrielle H. S.;
Tadini, Gianluca;
Zambruno, Giovanna;
Bruckner-Tuderman, Leena;
McGrath, John A.;
Castiglia, Daniele

Publication type:

Article

Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa.

Published in:

Journal of Investigative Dermatology, 2004, v. 123, n. 4, p. 639, doi. 10.1111/j.0022-202X.2004.23302.x

By:

Posteraro, Patrizia;
De Luca, Naomi;
Meneguzzi, Guerrino;
Hachem, May El;
Angelo, Corrado;
Gobello, Tommaso;
Tadini, Gianluca;
Zambruno, Giovanna;
Castiglia, Daniele

Publication type:

Article

Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa.

Published in:

Journal of Investigative Dermatology, 2002, v. 119, n. 6, p. 1456, doi. 10.1046/j.1523-1747.2002.19606.x

By:

Gardella, Rita;
Castiglia, Daniele;
Posteraro, Patrizia;
Bernardini, Silvia;
Zoppi, Nicoletta;
Paradisi, Mauro;
Tadini, Gianluca;
Barlati, Sergio;
McGrath, John A;
Zambruno, Giovanna;
Colombi, Marina

Publication type:

Article

High-Frequency Microsatellite Instability is Associated with Defective DNA Mismatch Repair in Human Melanoma.

Published in:

Journal of Investigative Dermatology, 2002, v. 118, n. 1, p. 79, doi. 10.1046/j.0022-202x.2001.01611.x

By:

Alvino, Ester;
Marra, Giancarlo;
Pagani, Elena;
Falcinelli, Sabrina;
Pepponi, Rita;
Perrera, Claudia;
Haider, Ritva;
Castiglia, Daniele;
Ferranti, Giulio;
Bonmassar, Enzo;
Jiricny, Josef;
Zambruno, Giovanna;
D'Atri, Stefania

Publication type:

Article

Novel Mutations in the LAMC2 Gene in Non-Herlitz Junctional Epidermolysis Bullosa: Effects on Laminin-5 Assembly, Secretion, and Deposition.

Published in:

Journal of Investigative Dermatology, 2001, v. 117, n. 3, p. 731, doi. 10.1046/j.0022-202x.2001.01453.x

By:

Castiglia, Daniele;
Posteraro, Patrizia;
Spirito, Flavia;
Pinola, Mari;
Angelo, Corrado;
Puddu, Pietro;
Meneguzzi, Guerrino;
Zambruno, Giovanna

Publication type:

Article

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa.

Published in:

Journal of Investigative Dermatology, 2001, v. 116, n. 1, p. 182, doi. 10.1046/j.1523-1747.2001.00229.x

By:

Ruzzi, Laura;
Pas, Hendri;
Posteraro, Patrizia;
Mazzanti, Cinzia;
Didona, Biagio;
Owaribe, Katsushi;
Meneguzzi, Guerrino;
Zambruno, Giovanna;
Castiglia, Daniele;
D'Alessio, Marina

Publication type:

Article

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa.

Published in:

Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 744, doi. 10.1046/j.1523-1747.1998.00397.x

By:

Terracina, Michela;
Posteraro, Patrizia;
Schubert, Margit;
Sonego, Giulio;
Atzori, Francesco;
Zambruno, Giovanna;
Bruckner‐tuderman, Leena;
Castiglia, Daniele

Publication type:

Article

The Increase in Maternal Expression of axin1 and axin2 Contribute to the Zebrafish Mutant Ichabod Ventralized Phenotype.

Published in:

Journal of Cellular Biochemistry, 2015, v. 116, n. 3, p. 418, doi. 10.1002/jcb.24993

By:

Valenti, Fabio;
Ibetti, Jessica;
Komiya, Yuko;
Baxter, Melissa;
Lucchese, Anna Maria;
Derstine, Lauren;
Covaciu, Claudia;
Rizzo, Valeria;
Vento, Renza;
Russo, Giuseppe;
Macaluso, Marcella;
Cotelli, Franco;
Castiglia, Daniele;
Gottardi, Cara J.;
Habas, Raymond;
Giordano, Antonio;
Bellipanni, Gianfranco

Publication type:

Article

Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma.

Published in:

Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 165, doi. 10.1002/gcc.10193

By:

Daniele Castiglia;
Elena Pagani;
Ester Alvino;
Patrizia Vernole;
Giancarlo Marra;
Elda Cannavò;
Josef Jiricny;
Giovanna Zambruno;
Stefania D'Atri

Publication type:

Article

Broadening the PHIP -Associated Neurodevelopmental Phenotype.

Published in:

Children, 2024, v. 11, n. 11, p. 1395, doi. 10.3390/children11111395

By:

Pascolini, Giulia;
Scaglione, Giovanni Luca;
Chandramouli, Balasubramanian;
Castiglia, Daniele;
Di Zenzo, Giovanni;
Didona, Biagio

Publication type:

Article

Triiodothyronine-Induced Shortening of Chromatin Repeat Length in Neurons Cultured in a Chemically Denned Medium.

Published in:

Journal of Neurochemistry, 1987, v. 48, n. 4, p. 1053, doi. 10.1111/j.1471-4159.1987.tb05626.x

By:

Cestelli, Alessandro;
Liegro, Italia;
Castiglia, Daniele;
Gristina, Roberto;
Ferraro, Donatella;
Salemi, Giuseppe;
Savettieri, Giovanni

Publication type:

Article

Evidence of a Dose‐Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.

Published in:

Experimental Dermatology, 2024, v. 33, n. 11, p. 1, doi. 10.1111/exd.70012

By:

Pascolini, Giulia;
Scaglione, Giovanni Luca;
Mariotti, Feliciana;
Concolino, Paola;
Minucci, Angelo;
Didona, Biagio;
Castiglia, Daniele;
Di Zenzo, Giovanni

Publication type:

Article

Histone deacetylase inhibition mitigates fibrosis-driven disease progression in recessive dystrophic epidermolysis bullosa.

Published in:

British Journal of Dermatology, 2024, v. 191, n. 4, p. 568, doi. 10.1093/bjd/ljae225

By:

Primerano, Alessia;
Domenico, Emanuela De;
Cianfarani, Francesca;
Luca, Naomi De;
Floriddia, Giovanna;
Teson, Massimo;
Cristofoletti, Cristina;
Cardarelli, Silvia;
Scaglione, Giovanni Luca;
Baldini, Enke;
Cangelosi, Davide;
Uva, Paolo;
Sánchez, Jonathan Fernando Reinoso;
Roubaty, Carole;
Dengjel, Jörn;
Nyström, Alexander;
Mastroeni, Simona;
Ulisse, Salvatore;
Castiglia, Daniele;
Odorisio, Teresa

Publication type:

Article

Epidermolysis-Bullosa-Associated Squamous Cell Carcinomas Support an Immunosuppressive Tumor Microenvironment: Prospects for Immunotherapy.

Published in:

Cancers, 2024, v. 16, n. 2, p. 471, doi. 10.3390/cancers16020471

By:

Rafei-Shamsabadi, David;
Scholten, Lena;
Lu, Sisi;
Castiglia, Daniele;
Zambruno, Giovanna;
Volz, Andreas;
Arnold, Andreas;
Saleva, Mina;
Martin, Ludovic;
Technau-Hafsi, Kristin;
Meiss, Frank;
von Bubnoff, Dagmar;
Has, Cristina

Publication type:

Article

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Published in:

Acta Dermato-Venereologica, 2021, v. 101, n. 6, p. 1, doi. 10.2340/00015555-3822

By:

ABENI, Damiano;
ROTUNNO, Roberta;
DIOCIAIUTI, Andrea;
GIANCRISTOFORO, Simona;
BONAMONTE, Domenico;
FILONI, Angela;
SCHEPIS, Carmelo;
SIRAGUSA, Maddalena;
NERI, Iria;
VIRDI, Annalucia;
CASTIGLIA, Daniele;
ZAMBRUNO, Giovanna;
BODEMER, Christine;
EL HACHEM, May

Publication type:

Article

Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.

Published in:

Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1192, doi. 10.2340/00015555-3291

By:

GUERRA, Liliana;
BERGAMO, Fabio;
D'APICE, Maria Rosaria;
ANGELUCCI, Francesco;
DI GIROLAMO, Stefano;
CAMEROTA, Letizia;
MONETTA, Rosanna;
ANNESSI, Giorgio;
CASTIGLIA, Daniele;
NOVELLI, Giuseppe;
PARADISI, Mauro;
BRANCATI, Francesco

Publication type:

Article

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Published in:

Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 831, doi. 10.2340/00015555-3216

By:

GUERRA, Liliana;
MAGLIOZZI, Monia;
BABAN, Anwar;
DI MAMBRO, Corrado;
DI ZENZO, Giovanni;
NOVELLI, Antonio;
EL HACHEM, May;
ZAMBRUNO, Giovanna;
CASTIGLIA, Daniele

Publication type:

Article

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

Published in:

2019

By:

EL HACHEM, May;
BARRESI, Sabina;
DIOCIAIUTI, Andrea;
BOLDRINI, Renata;
CONDORELLI, Angelo Giuseppe;
CAPOLUONGO, Ettore;
PROTO, Vittoria;
SCUVERA, Giulietta;
HAS, Cristina;
TARTAGLIA, Marco;
CASTIGLIA, Daniele

Publication type:

Case Study

A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease.

Published in:

2019

By:

GUERRA, Liliana;
PEDICELLI, Cristina;
PROTO, Vittoria;
CONDORELLI, Angelo Giuseppe;
MAZZANTI, Cinzia;
CASTIGLIA, Daniele

Publication type:

Case Study

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

Published in:

2018

By:

Diociaiuti, Andrea;
Rosati, Enrico;
Paglietti, Maria Giovanna;
Vacca, Paola;
Boldrini, Renata;
Pisaneschi, Elisa;
Castiglia, Daniele;
Novelli, Antonio;
Hachem, May El

Publication type:

Case Study

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.

Published in:

Acta Dermato-Venereologica, 2018, v. 98, n. 4, p. 411, doi. 10.2340/00015555-2851

By:

GUERRA, Liliana;
Giuseppe CONDORELLI, Angelo;
FORTUGNO, Paola;
CALABRESI, Valentina;
PEDICELLI, Cristina;
DI ZENZO, Giovanni;
CASTIGLIA, Daniele

Publication type:

Article

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.

Published in:

2017

By:

CARNEVALE, Claudia;
DIOCIAIUTI, Andrea;
GIANCRISTOFORO, Simona;
ZAMBRUNO, Giovanna;
EL HACHEM, May;
CASTIGLIA, Daniele;
PROTO, Vittoria;
BOLDRINI, Renata

Publication type:

Case Study

Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.

Published in:

Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 954, doi. 10.2340/00015555-2439

By:

EL HACHEM, May;
FORTUGNO, Paola;
PALMERI, Antonio;
HELMER CITTERICH, Manuela;
DIOCIAIUTI, Andrea;
PROTO, Vittoria;
BOLDRINI, Renata;
ZAMBRUNO, Giovanna;
CASTIGLIA, Daniele

Publication type:

Article

Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.

Published in:

Acta Dermato-Venereologica, 2016, v. 96, n. 6, p. 784, doi. 10.2340/00015555-2364

By:

DIOCIAIUTI, Andrea;
CASTIGLIA, Daniele;
GIANCRISTOFORO, Simona;
GUERRA, Liliana;
PROTO, Vittoria;
DOTTA, Andrea;
BOLDRINI, Renata;
ZAMBRUNO, Giovanna;
EL HACHEM, May

Publication type:

Article

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.

Published in:

Acta Dermato-Venereologica, 2015, v. 95, n. 6, p. 720, doi. 10.2340/00015555-2075

By:

GUERRA, Liliana;
FORTUGNO, Paola;
PEDICELLI, Cristina;
MAZZANTI, Cinzia;
PROTO, Vittoria;
ZAMBRUNO, Giovanna;
CASTIGLIA, Daniele

Publication type:

Article

Early Immunopathological Diagnosis of Ichthyosis with Confetti in Two Sporadic Cases with New Mutations in Keratin 10.

Published in:

Acta Dermato-Venereologica, 2014, v. 94, n. 5, p. 579, doi. 10.2340/00015555-1796

By:

DIOCIAIUTI, Andrea;
FORTUGNO, Paola;
EL HACHEM, May;
ANGELO, Corrado;
PROTO, Vittoria;
DE LUCA, Naomi;
MARTINELLI, Diego;
BOLDRINI, Renata;
CASTIGLIA, Daniele;
ZAMBRUNO, Giovanna

Publication type:

Article

T-lymphocytes are Directly Involved in the Clinical Expression of Migratory Circinate Erythema in Epidermolysis Bullosa Simplex Patients.

Published in:

Acta Dermato-Venereologica, 2014, v. 94, n. 3, p. 307, doi. 10.2340/00015555-1691

By:

CASTIGLIA, Daniele;
EL HACHEM, May;
DIOCIAIUTI, Andrea;
CARBONE, Teresa;
DE LUCA, Naomi;
PASCUCCI, Monica;
ZAMBRUNO, Giovanna;
CAVANI, Andrea

Publication type:

Article

Long-term Follow-up of a Spontaneously Improving Patient with Junctional Epidermolysis Bull Associated with ITGB4 c.3977-19T>A Splicing Mutation.

Published in:

2013

By:

Diociaiuti, Andrea;
Castiglia, Daniele;
Morini, Francesco;
Boldrini, Renata;
Fortugno, Paola;
Zambruno, Giovanna;
El-Hachem, May

Publication type:

Letter

Family Burden in Epidermolysis Bullosa is High Independent of Disease Type/Subtype.

Published in:

Acta Dermato-Venereologica, 2010, v. 90, n. 6, p. 607, doi. 10.2340/00015555-0947

By:

Tabolli, Stefano;
Pagliarello, Calogero;
Uras, Claudia;
Di Pietro, Cristina;
Zambruno, Giovanna;
Castiglia, Daniele;
Sampogna, Francesca;
Abeni, Damiano

Publication type:

Article

A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome.

Published in:

Acta Dermato-Venereologica, 2010, v. 90, n. 1, p. 95, doi. 10.2340/00015555-0769

By:

Tüysüz, Beyhan;
Ojalvo, David;
Mat, Cem;
Zambruno, Giovanna;
Covaciu, Claudia;
Castiglia, Daniele;
D’Alessio, Marina

Publication type:

Article

AXIN2 germline mutations are rare in familial melanoma.

Published in:

Genes, Chromosomes & Cancer, 2011, v. 50, n. 5, p. 370, doi. 10.1002/gcc.20855

By:

Pedace, Lucia;
Castiglia, Daniele;
De Simone, Paola;
Castori, Marco;
De Luca, Naomi;
Amantea, Ada;
Binni, Francesco;
Majore, Silvia;
Cozzolino, Angela Maria;
De Bernardo, Carmelilia;
Zambruno, Giovanna;
Catricalà, Caterina;
Grammatico, Paola

Publication type:

Article

Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma.

Published in:

Genes, Chromosomes & Cancer, 2008, v. 47, n. 7, p. 614, doi. 10.1002/gcc.20567

By:

Castiglia, Daniele;
Bernardini, Silvia;
Alvino, Ester;
Pagani, Elena;
De Luca, Naomi;
Falcinelli, Sabrina;
Pacchiarotti, Alberto;
Bonmassar, Enzo;
Zambruno, Giovanna;
D'Atri, Stefania

Publication type:

Article