Detalhe da pesquisa
1.
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Hum Mol Genet;
31(8): 1308-1324, 2022 04 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34740256
2.
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Dermatology;
2024 Apr 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38588653
3.
S2k guidelines on diagnosis and treatment of linear IgA dermatosis initiated by the European Academy of Dermatology and Venereology.
J Eur Acad Dermatol Venereol;
2024 Feb 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38421060
4.
SARS-CoV-2 infection of thymus induces loss of function that correlates with disease severity.
J Allergy Clin Immunol;
151(4): 911-921, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36758836
5.
S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV).
J Eur Acad Dermatol Venereol;
37(6): 1118-1134, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36965110
6.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Brain;
144(10): 3020-3035, 2021 11 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33964137
7.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Clin Genet;
99(6): 842-848, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33733458
8.
Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway.
J Biomed Sci;
28(1): 36, 2021 May 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33966637
9.
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Acta Derm Venereol;
101(6): adv00477, 2021 Jun 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33954798
10.
Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.
Pediatr Dermatol;
37(2): 393-395, 2020 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31957133
11.
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Int J Mol Sci;
21(20)2020 Oct 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33081034
12.
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
Int J Mol Sci;
21(4)2020 Feb 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32093196
13.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
Am J Hum Genet;
99(6): 1395-1404, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27889062
14.
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
Exp Dermatol;
28(10): 1156-1163, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29672931
15.
Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.
Int J Mol Sci;
20(22)2019 Nov 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31739489
16.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet;
97(1): 99-110, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26119818
17.
Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa.
Am J Pathol;
187(7): 1445-1453, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28460207
18.
Corrigendum: S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV).
J Eur Acad Dermatol Venereol;
37(11): 2378-2379, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37702229
19.
Local anesthesia in pediatric dermatologic surgery: Evaluation of a patient-centered approach.
Pediatr Dermatol;
35(1): 112-116, 2018 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29243298
20.
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
Proc Natl Acad Sci U S A;
112(5): 1499-504, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25605938