Results 121 to 130 of about 248,586 (158)

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

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

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

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

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

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