Detalhe da pesquisa
1.
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Am J Hum Genet
; 100(6): 926-939, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575648
2.
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
em Inglês
| MEDLINE | ID: mdl-31347739
3.
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
Am J Hum Genet
; 99(2): 430-6, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476651
4.
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.
J Invest Dermatol
; 139(10): 2154-2163.e5, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31082376
5.
Strong fascin expression promotes metastasis independent of its F-actin bundling activity.
Oncotarget
; 8(66): 110077-110091, 2017 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29299131