Detalhe da pesquisa
1.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Nat Immunol
; 17(5): 495-504, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27019227
2.
A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.
Pediatr Dermatol
; 41(1): 80-83, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-37345838
3.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32497488
4.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34012067
5.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Hum Mutat
; 40(12): 2318-2333, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31347739
6.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Am J Med Genet A
; 179(3): 442-447, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30703280
7.
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
Pediatr Dermatol
; 36(1): 132-138, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30515866
8.
Cord blood platelet gel for the treatment of inherited epidermolysis bullosa.
Transfus Apher Sci
; 57(3): 370-373, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29933907
9.
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Australas J Dermatol
; 64(4): 576-578, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37577813
10.
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
Nat Genet
; 39(7): 833-5, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17546031
11.
Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa.
Int J Mol Sci
; 17(10)2016 Sep 24.
Artigo
Inglês
| MEDLINE | ID: mdl-27669234
12.
Tinea Imbricata in an Italian Child and Review of the Literature.
Mycopathologia
; 180(5-6): 353-7, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26314408
13.
Familial papular epidermal nevus with "skyline" basal cell layer.
Pediatr Dermatol
; 31(1): e33-5, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24274825
14.
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
Am J Hum Genet
; 86(4): 596-603, 2010 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-20226437
15.
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
Am J Med Genet A
; 161A(6): 1414-20, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23613254
16.
Nevoid follicular mucinosis: a new type of hair follicle nevus.
J Cutan Pathol
; 40(9): 844-7, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23621858
17.
Papular epidermal nevus with "skyline" basal cell layer (PENS) following a Blaschko linear pattern.
Pediatr Dermatol
; 30(6): e270-1, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23600737
18.
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
Genes (Basel)
; 14(5)2023 05 14.
Artigo
Inglês
| MEDLINE | ID: mdl-37239440
19.
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
Genes (Basel)
; 14(1)2023 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36672894
20.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36980989