Results 181 to 190 of about 517,181 (258)

493 Identification of a novel causative gene responsible for autosomal recessive congenital ichthyosis

, 2017
Yohya Shigehara, Shujiro Okuda, Ryota Hayashi, Hiroyuki Nakai, Riichiro Abe, Abdul-Ghani Kibbi, Mazen Kurban, Yutaka Shimomura   +7 more
openalex   +1 more source

Congenital lamellar ichthyosis

, 2017
М. Н. Гаджимурадов
openalex   +1 more source

Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report. [PDF]

JAAD Case Rep
Almalki B, Alghamdi Y, Aman A, Alamri S, Alshareef A, Alraddadi A.   +5 more
europepmc   +1 more source

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

, 2018
Uxia Esperón-Moldes, Manuel Ginarte, L. Rodríguez‐Pazos, Laura Fachal, T. Zamorano Pozo, Jesús Luelmo Aguilar, J. del Boz González, A. Martín‐Santiago, Ana Vega   +8 more
openalex   +1 more source

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature. [PDF]

J Pediatr Genet, 2022
Dawman L, Kaur A, Nada R, Chakraborty S, Handa S, Sharawat IK, Tiewsoh K.   +6 more
europepmc   +1 more source

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]

, 2016

core   +1 more source

283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population

, 2018
Janan Mohamad, Liat Samuelov, N. Malchin, S. Tiaber, Tom Rabinowitz, Ora Bitterman‐Deutsch, Vered Molho‐Pessach, Eran Cohen‐Barak, Gideon Bach, B Z Garty, Richard N. Bergman, Avikam Harel, Arti Nanda, G.G. Lestringant, John A. McGrath, Stavit A. Shalev, Noam Shomron, J. Mashiach, Marina Eskin‐Schwartz, Ofer Sarig, Eli Sprecher   +20 more
openalex   +1 more source

Preclinical evaluation of a modified HSV-1 vector encoding human TGM1 for the treatment of autosomal recessive congenital ichthyosis (ARCI).

Journal of Investigative Dermatology, 2020
J. C. Freedman, T. Parry, Peipei Zhang, A. Majumdar, S. Krishnan, Lauren K. Regula, M. O’Malley, S. Coghlan, S. Yogesha, S. Ramasamy, P. Agarwal   +10 more
semanticscholar   +1 more source

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI

, 2019
Kiran Kale, Nitin P. Ghonge, Anita Kaul
openalex   +1 more source