Results 121 to 130 of about 8,173 (220)

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. [PDF]

Genes (Basel), 2023
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J.   +20 more
europepmc   +1 more source

Harlequin Ichtyosis: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2009
Harlequin ichthyosis is a severe and usually fatal congenital keratinization disorder. Although it has many characteristic findings on prenatal ultrasound such as a wide gaping mouth, intrauterine growth retardation, short limbs, joint contractures ...
Yetkin Karasu, Tuyan İlhan, Sinan Karadeniz, Orhan Gelişen   +3 more
doaj  

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation. [PDF]

Cureus, 2022
Dumenigo A, Rusk A, Marathe K.
europepmc   +1 more source

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

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults. [PDF]

Arch Dermatol Res, 2023
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS.   +13 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

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