Results 141 to 150 of about 8,173 (220)

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

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

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

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

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

Refsum disease [PDF]

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

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

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

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