Results 111 to 120 of about 5,748 (201)

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. [PDF]

Medicina (Kaunas), 2023
Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman FU, Daud S, Shaikh R, Ayub M, Wali A.   +9 more
europepmc   +1 more source

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. [PDF]

Vet Sci, 2022
Petak A, Šoštarić-Zuckermann IC, Hohšteter M, Lemo N.   +3 more
europepmc   +1 more source

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]

Ital J Pediatr, 2022
Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G.   +7 more
europepmc   +1 more source

Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study. [PDF]

Dermatol Ther (Heidelb), 2023
Marathe K, Teng JMC, Guenthner S, Bunick CG, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Murrell DF.   +9 more
europepmc   +1 more source

Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography

, 2011
Harlequin fetus is a rare and mostly fatal form of congenital ichthyosis that can be diagnosed by fetal skin biopsy in patients with a family history of the disease.

core  

A functional analysis of pathogenic variants in NIPAL4 in patients with congenital ichthyosis

Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of rare heterogeneous cornification disorders characterised by skin scaling and erythroderma.
Eckl, Katja, Gomez Franco, Paloma, Oji, Vinzenz, Traupe, Heiko, Süßmuth, Kira, Stoneley, Rosalie, Hennies, Hans   +6 more
core   +1 more source

Social Media Listening in Congenital Ichthyosis: Quantitative and Qualitative Findings. [PDF]

JMIR Form Res
Severino-Freire M, Granier Tournier C, Malaab J, Süßmuth K, Gostynski A, Hernández-Martín Á, Mazereeuw-Hautier J.   +6 more
europepmc   +1 more source

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]

Front Genet, 2022
Zhang L, Hu Y, Lu J, Zhao P, Zhang X, Tan L, Li J, Xiao C, Zeng L, He X.   +9 more
europepmc   +1 more source

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
Tamgadge A, Gomase K.
europepmc   +1 more source

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis. [PDF]

Clin Case Rep, 2021
Tang H, Shi X, Zhang G.
europepmc   +1 more source