Detalhe da pesquisa
1.
Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis.
Exp Dermatol
; 32(9): 1557-1562, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261383
2.
Integrated safety analysis of baricitinib in adults with severe alopecia areata from two randomized clinical trials.
Br J Dermatol
; 188(2): 218-227, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36763878
3.
Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
Clin Exp Dermatol
; 48(3): 199-210, 2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36656063
4.
A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.
Clin Genet
; 98(2): 116-125, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350852
5.
Generalized pustular psoriasis that developed in a patient with an NFKB2 variant.
J Dtsch Dermatol Ges
; 22(1): 118-120, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117957
6.
Structural behavior of keratin-associated protein 8.1 in human hair as revealed by a monoclonal antibody.
J Struct Biol
; 204(2): 207-214, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125694
7.
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
Hum Mol Genet
; 25(20): 4484-4493, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173123
8.
Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.
Odontology
; 105(2): 150-154, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27160269
9.
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
Nature
; 464(7291): 1043-7, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20393562
10.
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
Nature
; 466(7302): 113-7, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20596022
11.
Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.
Acta Derm Venereol
; 101(9): adv00547, 2021 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490468
12.
Alopecia areata and psoriasis vulgaris associated with Turner syndrome.
Australas J Dermatol
; 62(3): e453-e455, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033128
13.
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Am J Hum Genet
; 88(6): 839-844, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665001
14.
Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.
Hum Mutat
; 34(1): 176-83, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903787
15.
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.
Hum Mutat
; 34(4): 578-81, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315978
16.
Biology and genetics of hair.
Annu Rev Genomics Hum Genet
; 11: 109-32, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20590427
17.
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
Hum Genet
; 132(11): 1253-64, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812741
18.
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
Am J Hum Genet
; 86(4): 632-8, 2010 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20346438
19.
Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: evidence that it is a variant of pustular psoriasis.
Dermatology
; 226(1): 28-31, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23428889
20.
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
Genomics
; 99(4): 202-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22289416