Results 171 to 180 of about 517,181 (258)

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

, 2011
Shirli Israeli, Ziad Khamaysi, Dana Fuchs‐Telem, Janna Nousbeck, Richard N. Bergman, Ofer Sarig, Eli Sprecher   +6 more
openalex   +1 more source

258 National survey of quality of life and disease severity in patients with congenital ichthyosis [PDF]

, 2018
Chiaki Murase, Takuya Takeichi, Akitaka Shibata, Masahiro Nakatochi, Fumie Kinoshita, Shigaku Ikeda, Michiko Kurosawa, Masashi Akiyama   +7 more
openalex   +1 more source

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis. [PDF]

Clin Case Rep, 2021
Tang H, Shi X, Zhang G.
europepmc   +1 more source

Oral Alitretinoin in Congenital Ichthyosis: A Pilot Study Shows Variable Effects and a Risk of Central Hypothyroidism

, 2012
Agneta Gånemo, Mette Sommerlund, Anders Vahlquist   +2 more
openalex   +2 more sources

Case Report on Management and Complication of Nonbullous Congenital Ichthyosis

, 2023
Seema Kolhe
openalex   +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

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. [PDF]

PLoS One, 2021
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H.   +12 more
europepmc   +1 more source

Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses

Fetal and Pediatric Pathology
Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing. Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests.
openaire   +2 more sources

Refsum disease [PDF]

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

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