Results 81 to 90 of about 2,317 (179)
Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family
Journal of Rehabilitation, 2006 Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy.
Parvaneh Karim-Zadeh
doaj
American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar +3 more
wiley +1 more source
Sjogren-Larsson syndrome: Report of two cases [PDF]
, 2004 Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal ...
Uppal Monica , Srinivas CR, Thowfeeq KT
core
Role of epigenetics and alterations in RNA metabolism in leukodystrophies
WIREs RNA, Volume 15, Issue 3, May/June 2024.Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey +8 more
wiley +1 more source
Update on the aldehyde dehydrogenase gene (
Human Genomics, 2011 Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retinoic acid ...
Jackson Brian +6 more
doaj +1 more source
Finding genes controlling arthritis in mice-Fcγ receptors and complement C5 [PDF]
, 2012 Autoimmune diseases are dependent on multifactorial factors including genes, environment and interactions between them. This thesis is focused on a chronic inflammatory disorder, Rheumatoid arthritis (RA).
Klaczkowska, Dorota
core +1 more source
The NF1 somatic mutational landscape in sporadic human cancers [PDF]
, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Cooper, David Neil +4 more
core +2 more sources
Indian Journal of Paediatric DermatologySjogren-Larsson syndrome (SLS) is an autosomal recessive ichthyotic syndrome characterized by a triad of congenital ichthyosis, mental retardation, and diplegia or tetraplegia.
Aparna Thirumalaiswamy +3 more
doaj +1 more source
Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay. [PDF]
Cureus, 2023 J SK +5 more
europepmc +1 more source
Epidemiological studies in Malaysia and Sweden on associations between smoking, silica exposure and the risk of developing rheumatoid arthritis [PDF]
, 2012 Rheumatoid arthritis (RA) is a chronic, inflammatory disease, frequently associated with joint destruction. Knowledge regarding the aetiology of RA is mainly generated on Caucasian populations.
Yahya, Abqariyah
core +1 more source