Results 161 to 170 of about 573,924 (254)

Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis. [PDF]

Indian Dermatol Online J
Tandon S, Muthyala R, Bhalla D, Yenamandra VK.   +3 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

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

Mimicking the LOX-Related Autosomal Recessive Congenital Ichthyosis Skin Disease Using a CRISPR-Cas9 System and Unravelling 12S-LOX Function in the Skin. [PDF]

Dermatopathology (Basel)
Simard-Bisson C, Larochelle S, Moulin VJ, Fruteau de Laclos B.   +3 more
europepmc   +1 more source

Genodermatoses [PDF]

, 2013
Uitto, Jouni
core   +2 more sources

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis. [PDF]

Int J Womens Dermatol
Zaouak A, Jouini W, Abdessalem G, Abdelhak S, Hammami H, Charfeddine C, Fenniche S.   +6 more
europepmc   +1 more source

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

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

American Journal of Human Genetics, 2017
L. Heinz, Gwang-Jin Kim, S. Marrakchi, J. Christiansen, H. Turki, Marc-Alexander Rauschendorf, M. Lathrop, I. Hausser, A. Zimmer, J. Fischer   +9 more
semanticscholar   +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

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core