Results 131 to 140 of about 5,748 (201)

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

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 vulgaris in a patient with trisomy 18 [ICTIOSIS VULGAR CONGENITA EN UNA PACIENTE CON TRISOMIA 18]

, 1995
Introduction. We report a newborn female with trisomy 18 associated to ichthyosis vulgaris of unusual congenital onset. Case report. The proposita born from a preterm pregnancy and presented also birth hypotrophy.
Corona-Rivera, A., Guillen-Gutrierrez, T.H., Ramirez-Valdivia, J.M., Corona-Rivera, J.R., Velasco-Perez, R., Corona-Rivera, E.   +5 more
core  

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

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

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

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