Results 151 to 160 of about 528,814 (282)

837 Untargeted lipidomics and transcriptomics suggest role of ceramide increases in congenital ichthyosis phenotypes [PDF]

, 2023
A. Paller, Sumran Rangwani, J. Allegood, H. Soltani, E. Guttman-Yassky, Z. Ren, N. Kaplan, A. Cowart   +7 more
openalex   +1 more source

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]

, 2017
Connolly, Anne M, Cooper, Megan A, Dharnidharka, Vikas R, et al,, Willing, Marcia C   +4 more
core   +2 more sources

White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis

Caspian Journal of Neurological Sciences, 2015
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah, Ali Ghabeli-Juibary, Shadi Zamanian   +2 more
doaj  

Congenital Ichthyosis [PDF]

JOJ Dermatology & Cosmetics, 2018
openaire   +1 more source

Congenital Ichthyosiform Erythroderma and Lamellar Ichthyosis: Two Patients Contrasted [PDF]

, 1973
T. J. DELANEY, R. Marks, Stephen Gold
openalex   +1 more source

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

, 2015
Faisal Ahmad, Muhammad Ansar, Sabba Mehmood, A. Izoduwa, Kwanghyuk Lee, Abdul Nasır, Muhammad Abrar, Sabba Mehmood, Asmat Ullah, Abdul Aziz, Joshua D. Smith, Jay Shendure, M. Bamshad, D.A. Nicekrson, Regie Lyn P. Santos‐Cortez, Suzanne M. Leal, Wasim Ahmad   +16 more
openalex   +1 more source

ORAL MANIFESTATIONS AND DENTAL APPROACH IN PEDIATRIC PATIENT WITH LAMELLAR CONGENITAL ICHTHYOSIS: 36-MONTH FOLLOW-UP

, 2022
Giselle Emilãine da Silva Reis, Gisele Marchetti, Bruna Letícia Vessoni Menoncin Casatti, João Rodrigo Sarot, José Vitor Nogara Borges de Menezes, Yasmine Mendes Pupo   +5 more
openalex   +1 more source

Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. [PDF]

, 1984
Mary L. Williams, Peter M. Elias
openalex   +1 more source

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. [PDF]

Medicina (Kaunas), 2023
Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman FU, Daud S, Shaikh R, Ayub M, Wali A.   +9 more
europepmc   +1 more source

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

, 2012
Anaïs Grall, Éric Guaguère, Sandrine Planchais, Susanne Grond, E. Bourrat, Ingrid Haußer, Christophe Hitte, Matthieu Le Gallo, Céline Derbois, Gwang-Jin Kim, Laëtitia Lagoutte, F. Degorce‐Rubiales, Franz P.W. Radner, Anne Thomas, Sébastien Küry, Emmanuel Bensignor, Jacques Fontaine, Didier Pin, Robert Zimmermann, Rudolf Zechner, Mark Lathrop, Francis Galibert, Catherine André, Judith Fischer   +23 more
openalex   +2 more sources