Results 171 to 180 of about 528,814 (282)

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey. [PDF]

Dermatol Pract Concept
Zorlu Ö, Aşıkovalı S.
europepmc   +1 more source

Refsum disease [PDF]

, 2015
Leroy, Bart, Wanders, Ronald JA, Waterham, Hans R   +2 more
core  

Congenital ichthyosis is associated with cutaneous infections in a case-control study of 2260 patients. [PDF]

Clin Exp Dermatol
Curtis KL, Zeldin S, Lipner SR.
europepmc   +1 more source

Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases. [PDF]

Acta Derm Venereol, 2021
Mazereeuw-Hautier J, Bourrat E, Tournier E, Battistella M, Bernabeu-Wittel J, Barbarot S, Hernández-Martín Á.   +6 more
europepmc   +1 more source

Autosomal Recessive Congenital Ichthyosis in Sweden and Estonia: Clinical, Genetic and Ultrastructural Findings in Eighty-three Patients

, 2003
Agneta Gånemo
openalex   +1 more source

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

, 2017
J. Uitto, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, N. Aghazadeh, Maryam Daneshpazhooh, Hamidreza Mahmoudi, Adam Ertel, Paolo Fortina, Kambiz Kamyab‐Hesari, Sirous Zeinali   +11 more
openalex   +1 more source

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

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

Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation. [PDF]

Mov Disord Clin Pract, 2021
Haeri G, Hajiakhoundi F, Alavi A, Ghiasi M, Munhoz RP, Rohani M.   +5 more
europepmc   +1 more source

Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis

, 2019
Iris R. Hartley, Julia Costa Beber Nunes, Maya Lodish, Constantine A. Stratakis   +3 more
openalex   +2 more sources

Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma. [PDF]

Acta Derm Venereol
Bernard P, Pell N, Mazereeuw-Hautier J, Jonca N.   +3 more
europepmc   +1 more source