Detalhe da pesquisa
1.
A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family.
Eur J Haematol
; 103(5): 523-526, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400153
2.
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
Acta Derm Venereol
; 98(4): 411-415, 2018 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29182795
3.
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Acta Derm Venereol
; 95(6): 720-4, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25710899
4.
A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease.
Acta Derm Venereol
; 99(1): 115-116, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085326
5.
Multicenter prospective study of the humoral autoimmune response in bullous pemphigoid.
Clin Immunol
; 128(3): 415-26, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18571472
6.
Dermatitis artefacta in a child.
Pediatr Dermatol
; 24(5): E51-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17958781
7.
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
J Invest Dermatol
; 126(8): 1776-83, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16675959
8.
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
Eur J Dermatol
; 16(6): 620-2, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17229601
9.
Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.
Eur J Dermatol
; 15(5): 332-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16172039
10.
Infantile bullous pemphigoid following vaccination.
Eur J Dermatol
; 28(5): 708-710, 2018 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325317
11.
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis.
J Invest Dermatol
; 122(3): 837-9, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15086573
12.
Guess what! Cellular variant of neurothekeoma.
Eur J Dermatol
; 12(2): 209-11, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11872428
13.
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
J Hum Genet
; 52(10): 865-870, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17902024
14.
Trigeminal neurotrophic ulceration in Wallenberg's syndrome.
Int J Dermatol
; 48(4): 443-5, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19335439