D. Castiglia

发表

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

M. Castori, G. Zambruno, L. Guerra, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

G. Zambruno, J. Hertz, D. Castiglia, 2011, The British journal of dermatology.

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

A. Hovnanian, S. Abdelhak, L. Romdhane, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.

A. Giannetti, M. Colombi, G. Zambruno, 2005, Biochemical and biophysical research communications.

Human Melanoma Metastases Express Functional CXCR4

G. Botti, P. Ascierto, R. Franco, 2006, Clinical Cancer Research.

Ichthyosis with confetti: clinics, molecular genetics and management

G. Zambruno, L. Guerra, D. Castiglia, 2015, Orphanet Journal of Rare Diseases.

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.

G. Zambruno, P. Posteraro, D. Castiglia, 2001, The Journal of investigative dermatology.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

F. Brancati, G. Cestra, F. Angelucci, 2018, Human mutation.

Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa.

G. Zambruno, F. Cianfarani, T. Odorisio, 2017, The American journal of pathology.

Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.

F. Passarelli, M. Castori, M. Paradisi, 2009, European journal of medical genetics.

Family burden in epidermolysis bullosa is high independent of disease type/subtype.

C. Di Pietro, F. Sampogna, G. Zambruno, 2010, Acta dermato-venereologica.

The cyclin-dependent kinase inhibitor PHA-848125 suppresses the in vitro growth of human melanomas sensitive or resistant to temozolomide, and shows synergistic effects in combination with this triazene compound.

E. Bonmassar, L. Levati, M. Ciomei, 2010, Pharmacological research.

Posttranscriptional regulation of H1° and H3.3B histone genes in differentiating rat cortical neurons

M. Scaturro, I. Liegro, D. Castiglia, 1995, Neurochemical Research.

A truncating mutation in the laminin‐332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration

R. Boldrini, G. Zambruno, F. Cianfarani, 2014, The British journal of dermatology.

Qualitative differences in nuclear proteins correlate with neuronal terminal differentiation

I. Liegro, D. Castiglia, A. Cestelli, 1992, Cellular and Molecular Neurobiology.

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

A. Giordano, Y. Komiya, R. Habas, 2015, Journal of cellular biochemistry.

FOXM1 regulates proliferation, senescence and oxidative stress in keratinocytes and cancer cells

G. Melino, E. Candi, N. Di Daniele, 2016, Aging.

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

G. Zambruno, S. Pruneddu, D. Castiglia, 2010, Dermatology.

RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development

E. Dellambra, S. Bondanza, G. Camerino, 2022, Orphanet Journal of Rare Diseases.

Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome

G. Annessi, P. Cascone, M. Castori, 2010, American journal of medical genetics. Part A.

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis

J. Fischer, M. Castori, G. Zambruno, 2009, Clinical genetics.

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

G. Zambruno, C. Pedicelli, L. Guerra, 2015, Acta dermato-venereologica.

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome

T. Hashimoto, G. Zambruno, T. Hamada, 2016, Experimental dermatology.

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

A. Novelli, G. Zambruno, L. Guerra, 2019, Acta dermato-venereologica.

Molecular testing in epidermolysis bullosa.

G. Zambruno, D. Castiglia, 2010, Dermatologic clinics.

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

S. Rossi, G. Zambruno, D. Castiglia, 2020, International journal of molecular sciences.

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice‐site mutation in KRT10

M. Castori, G. Zambruno, P. Ghirri, 2010, The British journal of dermatology.

Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review

G. Zambruno, D. Castiglia, M. Naim, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

M. del Río, P. Itin, J. Uitto, 2019, Orphanet journal of rare diseases.

FERMT1 promoter mutations in patients with Kindler syndrome

L. Levati, C. Has, G. Zambruno, 2015, Clinical genetics.

PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study.

G. Piccialli, C. Giancola, E. Pizzo, 2013, Molecular bioSystems.

CHARACTERIZATION OF A REGULATORY IDIOTOPE BY ANTIBODY ENGINEERING1

M. Zanetti, M. Sollazzo, D. Castiglia, 1990 .

Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening

D. Castiglia, F. Mariotti, B. Didona, 2022, Frontiers in Immunology.

MicroRNA‐145‐5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts

M. Teson, G. Zambruno, F. Cianfarani, 2019, The British journal of dermatology.

Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.

R. Boldrini, D. Martinelli, G. Zambruno, 2014, Acta dermato-venereologica.

Exon‐Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

F. Pagani, L. Levati, D. Castiglia, 2015, Human mutation.

Novel CTSC mutations in a patient with Papillon–Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement

S. Madonna, M. Castori, D. Castiglia, 2009, The British journal of dermatology.

MINI-REVIEW Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa

G. Zambruno, F. Cianfarani, T. Odorisio, 2022 .

Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa.

P. Uva, G. Zambruno, D. Abeni, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Delayed diagnosis of dyskeratosis congenita in a 40‐year‐old woman with multiple head and neck squamous cell carcinomas

B. Dallapiccola, M. Castori, G. Zambruno, 2007, The British journal of dermatology.

A single cycle of treatment with temozolomide, alone or combined with O(6)-benzylguanine, induces strong chemoresistance in melanoma cell clones in vitro: role of O(6)-methylguanine-DNA methyltransferase and the mismatch repair system.

J. Jiricny, P. Lacal, E. Bonmassar, 2006, International journal of oncology.

Induction of senescence pathways in Kindler syndrome primary keratinocytes

E. Dellambra, C. Has, M. Teson, 2013, The British journal of dermatology.

Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

M. del Río, P. Itin, J. Fischer, 2011, Human mutation.

RSPO1-mutated fibroblasts from non-tumoural areas of palmoplantar keratoderma display a cancer-associated phenotype

E. Dellambra, M. Teson, L. Guerra, 2021, European Journal of Dermatology.

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

S. Abdelhak, S. Boubaker, H. Ouragini, 2009, Journal of dermatological science.

Mutation mechanisms.

G. Zambruno, D. Castiglia, 2010, Dermatologic clinics.

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.

F. Atzori, G. Zambruno, L. Bruckner-Tuderman, 1998, The Journal of investigative dermatology.

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

D. Ponzin, M. Tartaglia, S. Rossi, 2021, Genes.

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

R. Boldrini, A. Dotta, G. Zambruno, 2016, Acta dermato-venereologica.

Recessive Bullous Dermolysis of the Newborn in Preterm Siblings with a Missense Mutation in Type VII Collagen

G. Zambruno, G. Fabrizi, C. Pagliarello, 2015, Pediatric dermatology.

Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation.

R. Boldrini, G. Zambruno, D. Castiglia, 2013, Acta dermato-venereologica.

Long-term Follow-up of a Spontaneously Improving Patient with Junctional Epidermolysis Bullosa Associated with ITGB 4 c . 3977-19 T > A Splicing Mutation

R. Boldrini, G. Zambruno, D. Castiglia, 2012 .

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

R. Boldrini, S. Rossi, A. Novelli, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Analysis of candidate genes through a proteomics-based approach in primary cell lines from malignant melanomas and their metastases

P. Ascierto, A. Cossu, G. Palmieri, 2005, Melanoma research.

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

M. Castori, G. Zambruno, L. Guerra, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Quality of life in patients with epidermolysis bullosa

C. Di Pietro, F. Sampogna, G. Zambruno, 2009, The British journal of dermatology.

BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study.

M. Stratton, G. Botti, P. Ascierto, 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

E. Candi, G. Zambruno, D. Castiglia, 2021, Journal of Biomedical Science.

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

C. Pedicelli, L. Guerra, D. Castiglia, 2018, Acta dermato-venereologica.

Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicing

F. Pagani, D. Licastro, D. Castiglia, 2018, RNA.

AXIN2 germline mutations are rare in familial melanoma

M. Castori, P. Grammatico, G. Zambruno, 2011, Genes, chromosomes & cancer.

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

E. Bonmassar, E. Pagani, G. Zambruno, 2008, Genes, chromosomes & cancer.

Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.

P. Uva, G. Zambruno, M. Di Salvio, 2014, Human molecular genetics.

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

A. Hovnanian, S. Abdelhak, L. Romdhane, 2014, Archives of Dermatological Research.

A unique LAMB3 splice‐site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries

C. Has, S. Kárpáti, F. Petit, 2016, The British journal of dermatology.

Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.

G. Zambruno, C. Angelo, P. Puddu, 2001, The Journal of investigative dermatology.

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

J. Jiricny, E. Pagani, G. Marra, 2003, Genes, chromosomes & cancer.

High-frequency microsatellite instability is associated with defective DNA mismatch repair in human melanoma.

J. Jiricny, E. Bonmassar, E. Pagani, 2002, The Journal of investigative dermatology.

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

F. Brancati, B. Dallapiccola, G. Cestra, 2014, The Journal of investigative dermatology.

IgE Sensitization Profile in Patients with Netherton Syndrome

R. Paganelli, D. Castiglia, B. Didona, 2022, International Archives of Allergy and Immunology.

Betapapillomavirus in multiple non‐melanoma skin cancers of Netherton syndrome: Case report and published work review

G. Zambruno, A. Sinistro, L. Guerra, 2015, The Journal of dermatology.

Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

G. Zambruno, D. Castiglia, P. Fortugno, 2013, Pediatric dermatology.

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

G. Zambruno, D. Castiglia, P. Fortugno, 2012, Journal of Human Genetics.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

J. McGrath, C. Has, G. Zambruno, 2006, The Journal of investigative dermatology.

Ichthyosis prematurity syndrome ( IPS ) ( OMIM # 608649 ) is a rare autosomal recessively inherited syndromic ichthyosis

R. Boldrini, A. Novelli, D. Castiglia, 2022 .

Accumulation of different c-erbA transcripts during rat brain development and in cortical neurons cultured in a synthetic medium

I. Liegro, D. Castiglia, A. Cestelli, 1992, Cellular and Molecular Neurobiology.

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

G. Savettieri, R. Gristina, I. Liegro, 1987, Journal of neurochemistry.

Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor‐like motif 2 of the β3 short arm

G. Zambruno, F. Cianfarani, D. Castiglia, 2018, The British journal of dermatology.

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

E. Dellambra, G. Zambruno, D. Castiglia, 2019, International journal of molecular sciences.

MicroRNA‐155 targets the SKI gene in human melanoma cell lines

S. Bondanza, F. Martelli, E. Bonmassar, 2011, Pigment cell & melanoma research.

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

M. Boerries, H. Busch, K. Tasanen, 2016, American journal of human genetics.

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

R. Boldrini, M. Tartaglia, G. Scuvera, 2019, Acta Dermato-Venereologica.

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.

B. Rebolledo-Jaramillo, A. Paller, S. Duchatelet, 2019, The Journal of investigative dermatology.

H1° and H3.3B mRNA levels in developing rat brain

M. Scaturro, I. Liegro, D. Castiglia, 1994, Neurochemical Research.

A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.

M. Scaturro, G. Zambruno, P. Posteraro, 2003, Biochemical and biophysical research communications.

Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.

G. Zambruno, M. Paradisi, C. Angelo, 1998, Biochemical and biophysical research communications.

The dynamic properties of neuronal chromatin are modulated by triiodothyronine

G. Savettieri, R. Gristina, I. Liegro, 1992, Neurochemical Research.

Two families confirm Schöpf‐Schulz‐Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum

S. Heath, F. Brancati, S. Madonna, 2011, Clinical genetics.

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

G. Zambruno, D. Castiglia, R. de Vito, 2022, Genes.

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

R. Boldrini, A. Novelli, D. Castiglia, 2018, Acta dermato-venereologica.

Herlitz junctional epidermolysis bullosa: laminin‐5 mutational profile and carrier frequency in the Italian population

M. Castori, G. Zambruno, P. Ghirri, 2007, The British journal of dermatology.

Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development.

G. Zambruno, T. Odorisio, L. Guerra, 2017, Matrix biology : journal of the International Society for Matrix Biology.

Impaired keratinocyte proliferative and clonogenic potential in transgenic mice overexpressing 14-3-3σ in the epidermis.

E. Dellambra, G. Zambruno, C. Niessen, 2011, The Journal of investigative dermatology.

A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.

B. Tüysüz, G. Zambruno, D. Castiglia, 2010, Acta dermato-venereologica.

Epidermolysis bullosa in Greece: the patients’ journey so far

D. Rigopoulos, G. Zambruno, A. Stratigos, 2018, International Journal of Research in Dermatology.

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Morris A Swertz, Cristina Has, Trebor Rengaw, 2011, Human mutation.

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex

S. Llames, M. del Río, D. Mechan, 2011, The British journal of dermatology.

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

S. Llames, M. del Río, F. Larcher, 2010, The British journal of dermatology.

Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis

R. Boldrini, G. Zambruno, S. Giancristoforo, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree

G. Zambruno, D. Castiglia, P. Fortugno, 2015, European Journal of Dermatology.

A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome

G. Zambruno, N. Kaçar, D. Castiglia, 2008, The British journal of dermatology.

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

J. McGrath, N. Zoppi, M. Colombi, 2002, The Journal of investigative dermatology.

Expression of synapsin I gene in primary cultures of differentiating rat cortical neurons

M. Scaturro, G. Savettieri, I. Liegro, 1995, Neurochemical Research.

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

C. Pedicelli, L. Guerra, D. Castiglia, 2017, Acta dermato-venereologica.

Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

G. Zambruno, C. Angelo, P. Posteraro, 2004, The Journal of investigative dermatology.

T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.

G. Zambruno, A. Cavani, D. Castiglia, 2014, Acta dermato-venereologica.

Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

L. Bruckner-Tuderman, P. Posteraro, D. Castiglia, 1999, The British journal of dermatology.

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.

I. Torrente, M. Castori, M. Paradisi, 2008, Journal of dermatological science.

Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response

S. Madonna, R. Paganelli, D. Castiglia, 2023, Biomedicines.

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

E. Dellambra, F. Ricci, F. Passarelli, 2020, International journal of molecular sciences.

302 Molecular and mutational signatures of squamous cell carcinomas in epidermolysis bullosa

M. Boerries, C. Has, A. Reimer, 2019, Journal of Investigative Dermatology.

Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata

G. Zambruno, C. Angelo, L. Guerra, 2017, The British journal of dermatology.

Structural definition by antibody engineering of an idiotypic determinant.

A Tramontano, M Sollazzo, D Castiglia, 1990, Protein engineering.

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

D. Castiglia, P. Manzoni, A. Borghesi, 2010, Neonatology.

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

F. Brancati, F. Angelucci, G. Annessi, 2019, Acta dermato-venereologica.

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

N. Zoppi, M. Colombi, G. Zambruno, 2006, Clinical genetics.

H1(0) and H3.3B mRNA levels in developing rat brain.

M. Scaturro, D. Castiglia, I. Di Liegro, 1994, Neurochemical research.

Autoantibody idiotypy and neonatal B cell repertoire.

D. Glotz, M. Zanetti, M. Sollazzo, 1989, Viral immunology.

Epidermolysis bullosa care in Italy.

G. Zambruno, D. Castiglia, 2010, Dermatologia clinica.

The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index

C. Di Pietro, F. Sampogna, G. Zambruno, 2013, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

C. Bodemer, D. Bonamonte, A. Filoni, 2021, Acta dermato-venereologica.

Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.

F. Passarelli, M. Castori, M. Paradisi, 2009, European journal of medical genetics.

A truncating mutation in the laminin‐332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration

R. Boldrini, G. Zambruno, F. Cianfarani, 2014, The British journal of dermatology.

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

R. Boldrini, G. Zambruno, S. Giancristoforo, 2017, Acta dermato-venereologica.

Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata

C. Angelo, D. Castiglia, V. Calabresi, 2017, British Journal of Dermatology.

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

D. Castiglia, D. Rafei-Shamsabadi, M. Saleva, 2024, Cancers.

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

F. Brancati, A. Costanzo, M. Salvatore, 2022, Human Molecular Genetics.

FERMT1 promoter mutations in patients with Kindler syndrome

L. Levati, C. Has, G. Zambruno, 2015, Clinical genetics.

Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis bullosa.

T. Odorisio, D. Castiglia, R. Rota, 2024, The Journal of investigative dermatology.

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

E. Colombo, G. Zambruno, M. Paradisi, 2014, European Journal of Human Genetics.

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

R. Boldrini, Antonio Palmeri, G. Zambruno, 2016, Acta dermato-venereologica.