Results 121 to 130 of about 5,748 (201)

Congenital Non‐Epidermolytic Ichthyosis in Two Littermate Mixed‐Breed Yorkshire Terriers

Author Contributions: C. Lorente-Méndez: conceptualization, supervision, and writing. S.Peña: acquisition of data, and writing. A. Cerezo: supervision andwritingCongenital non-epidermolytic ichthyosis was diagnosed in two littermate mixed-breed Yorkshire
Cerezo, A., Lorente Méndez, María del Carmen, Peña, S.   +2 more
core   +1 more source

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis. [PDF]

Int J Mol Sci, 2022
Chulpanova DS, Shaimardanova AA, Ponomarev AS, Elsheikh S, Rizvanov AA, Solovyeva VV.   +5 more
europepmc   +1 more source

Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral. [PDF]

JAAD Int
Blanco-Calvo N, Núñez-Reiz A, Vals-Ferrán I, Malhotra R, Hernández-Martín A.   +4 more
europepmc   +1 more source

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

Zeldzaam subtype van congenitale ichthyosis: Ichthyosis prematuriteitsyndroom (IPS)

, 2017
Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis and is caused by a mutation in the SLC27A4 gene encoding the fatty acid transport protein 4 (FATP4).
Kuijpers, A.L.A., van Geel, Michel, Pasmans, S. G. M. A., van Oosterhout, M.M., Stuurman, K.E., Steijlen, Peter   +5 more
core  

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. [PDF]

Rev Paul Pediatr, 2023
Migliavacca MP, Fock RA, Almeida N, Cavalcanti T, Villela D, Perez ABA, Valle D, Wohler E, Sobreira NLM, Raskin S.   +9 more
europepmc   +1 more source

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +1 more source

[Congenital ichthyosis].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1983
W, Maszkiewicz, T, Bagińska, D, Manerowska   +2 more
openaire   +3 more sources

Deletion of the Epidermal Protease KLK5 Aggravates the Symptoms of Congenital Ichthyosis CDSN-nEDD. [PDF]

Int J Mol Sci
Zingkou E, Reynier M, Pampalakis G, Serre G, Jonca N, Sotiropoulou G.   +5 more
europepmc   +1 more source

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. [PDF]

Mol Syndromol, 2021
Ahmad F, Ahmed I, Alam Q, Ahmad T, Khan A, Ahmad I, Bilal M, Hayat A, Khan A, Waqas A, Rafeeq MM, Sain ZM, Umair M.   +12 more
europepmc   +1 more source