Detalhe da pesquisa
1.
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Am J Hum Genet
; 111(5): 896-912, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653249
2.
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1.
J Hum Genet
; 67(11): 675-678, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970985
3.
Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.
Clin Exp Dermatol
; 47(10): 1895-1897, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002914
4.
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.
J Hum Genet
; 66(8): 831-834, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580140
5.
Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp.
Acta Derm Venereol
; 101(9): adv00549, 2021 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490469
6.
Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.
Eur J Hum Genet
; 31(6): 716-720, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922631
7.
Whole-Mount Preparation and Microscopic Analysis of Epidermis.
Curr Protoc
; 2(7): e464, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35816161
8.
Nagashima-type palmoplantar keratosis associated with Tc17 cells in a patient with rheumatoid arthritis.
Eur J Dermatol
; 34(1): 93-95, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557467
9.
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
J Invest Dermatol
; 139(12): 2458-2466.e9, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31207227
10.
Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene.
J Dermatol
; 50(8): e240-e242, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890674
11.
A Japanese case of Vörner-type palmoplantar keratoderma caused by a novel KRT1 variant.
J Dermatol
; 50(9): e307-e308, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37122192
12.
Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis).
J Dermatol
; 49(11): e405-e406, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665529
13.
Superimposition of checkerboard distribution of ephelides and neurofibromas in a patient with segmental neurofibromatosis.
JAAD Case Rep
; 25: 89-92, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35799684
14.
Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons.
J Invest Dermatol
; 141(11): 2756-2760.e8, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33940034
15.
Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.
J Dermatol
; 47(11): e393-e394, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783278
16.
Nagashima-type palmoplantar keratosis caused by biallelic maternal mutation of SERPINB7 with segmental uniparental disomy of chromosome 18q.
J Dermatol
; 47(12): e453-e454, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32892407
17.
Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3.
J Dermatol
; 47(1): e18-e20, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621111
18.
Novel gene mutations in Chédiak-Higashi syndrome with hyperpigmentation.
J Dermatol
; 46(11): e416-e418, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245861
19.
Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation.
J Dermatol
; 45(11): e302-e303, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701304
20.
Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis.
J Dermatol
; 44(7): e146-e147, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28439958