Results 121 to 130 of about 3,562 (228)

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 [PDF]

, 2003
Caroline Lefèvre, Stéphanie Audebert, Florence Jobard, B. Bouadjar, Hakima Lakhdar, Omar Boughdene-Stambouli, C Blanchet‐Bardon, Roland Heilig, Mario Foglio, Jean Weissenbach, Mark Lathrop, Jean-François Prud’homme, Judith Fischer   +12 more
openalex   +1 more source

Tralokinumab and Acitretin for the Treatment of Lamellar Ichthyosis

JAMA Dermatology
This case report describes a man in his 30s who presented with severe and generalized congenital ichthyosis and was treated with a combination of tralokinumab and acitretin.
De Greef, Axel, Baeck, Marie
openaire   +3 more sources

Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report. [PDF]

J Orthop Case Rep, 2021
Sinha S, Sharma A, Gupta S, Agarwal A, Kanojia RK.   +4 more
europepmc   +1 more source

Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum [PDF]

, 2004
Antonio Pinna, Pasquale Ena, Franco Carta   +2 more
openalex   +1 more source

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

Management of harlequin ichthyosis in low-income countries [PDF]

, 2011
Mesia, D, Rossi, G
core   +2 more sources

UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES [PDF]

, 2011
2011-08Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease.
42169, AKIYAMA, MASASHI
core  

Successful Treatment with Topical N‐Acetylcysteine in Urea in Five Children with Congenital Lamellar Ichthyosis [PDF]

, 2011
Adriana Bassotti, Sílvia Moreno, Elena Criado   +2 more
openalex   +1 more source

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report

Iranian Journal of Public Health, 2015
Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI ...
Mohammad Taghi AKBARI, Mojgan ATAEI-KACHOUI   +1 more
doaj