Results 121 to 130 of about 363,235 (161)

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay. [PDF]

Front Pediatr
Zhu L, Zhou R, Zhang L, Chen M, Zhang S, Huang X, Shi Y, Ding H.   +7 more
europepmc   +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

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. [PDF]

Vet Med Sci, 2019
Briand A, Cochet-Faivre N, Reyes-Gomez E, Jaraud-Darnault A, Tiret L, Chevallier L.   +5 more
europepmc   +1 more source

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. [PDF]

Br J Dermatol, 2017
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA.   +21 more
europepmc   +1 more source

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. [PDF]

Mol Genet Genomic Med, 2019
Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC.   +16 more
europepmc   +1 more source

Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Present- ing as Mild Nonbullous Congenital Ichthyosiform Erythroderma

Autosomal recessive congenital ichthyosis (ARCI) comprises a group of rare, clinically heterogeneous disorders of keratinization, characterized by hyper- keratosis, abnormal skin scaling, and a variable degree of erythroderma. Af- fected infants are
Pustišek, Nives, Hižar Gašpar, Iva, Rešić, Arnes, Odak, Ljubica   +3 more
core  

Correction: Mutations in Cause Autosomal Recessive Congenital Ichthyosis in Humans.

PLoS Genetics, 2013
Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer   +12 more
doaj   +1 more source

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. [PDF]

Eur J Hum Genet, 2017
Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J.   +11 more
europepmc   +1 more source

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. [PDF]

Int J Dermatol, 2016
Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W.   +15 more
europepmc   +1 more source

Ichthyosis prematurity syndrome mimicking hyper-IgE syndrome due to a novel SLC27A4 variant. [PDF]

Pediatr Allergy Immunol
Akal C, Haskoloğlu ZŞ, İslamoğlu C, Süleyman M, Acar MO, Kutlay NY, Doğu EF, İkincioğulları KA.   +7 more
europepmc   +1 more source