Results 91 to 100 of about 2,303 (190)

Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage

Indian Journal of Paediatric Dermatology
Sjogren-Larsson syndrome (SLS) is an autosomal recessive ichthyotic syndrome characterized by a triad of congenital ichthyosis, mental retardation, and diplegia or tetraplegia.
Aparna Thirumalaiswamy, Saloni Abhijit Desai, Atul Madhusudan Dongre, Chitra Shivanand Nayak   +3 more
doaj   +1 more source

Changes in the gene expression programs of renal mesangial cells during diabetic nephropathy [PDF]

, 2012
BACKGROUND: Diabetic nephropathy is the leading cause of end stage renal disease. All three cell types of the glomerulus, podocytes, endothelial cells and mesangial cells, play important roles in diabetic nephropathy.
Eric W Brunskill, S Steven Potter
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Интервал QT в кардиологической клинике [PDF]

, 2011
Вісник Харківського національного університету імені В. Н. Каразіна, серія «Медицина». – 2009. – № 879. – Випуск 18. – С. 73-96.Интервал QT, отражающий процессы деполяризации и реполяризации миокарда и, в конечном итоге, функцию изгнания желудочков ...
Кулик, В.Л., Яблучанский, Н.И.   +1 more
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A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome. [PDF]

J Child Neurol, 2021
Warrack S, Love T, Rizzo WB.
europepmc   +1 more source

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson Syndrome patients [PDF]

, 2021
Mutations in ALDH3A2 cause Sjögren-Larsson Syndrome (SLS), a neuro-ichthyotic condition that is caused by deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identified
Ashokkumar, B, Efthymiou, S, Gowda, VK, Houlden, H, Karthi, S, Keller, MA, Rajeshwari, M, Reetu, S, Rizzo, WB, Srinivasan, VM, Varalakshmi, P   +10 more
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Morphological Changes of Parotid Gland in Experimental Hyperlipidemia [PDF]

, 2011
Objective. The aim of this study was to investigate the role of hyperlipidemia in the microstructure of parotid gland and its possible amelioration through statin treatment on Wistar rats.Methods.
Ioanna D. Daskala, Christina C. Tesseromatis   +1 more
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The neuromodulatory effect, safety and effectiveness of vagus nerve stimulation [PDF]

, 2017
Background Vagus nerve stimulation (VNS) is an adjunctive palliative neuromodulatory treatment for drug resistant epilepsy (DRE) and chronic depression.
Révész, David
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End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature. [PDF]

Ther Adv Rare Dis, 2022
Lambert LH, Shaikh N, Marx JL, Ramsey DJ.   +3 more
europepmc   +1 more source

A novel variant in the ALDH3A2 gene causative of Sjögren–Larsson syndrome evaluated in silico aids in proper genetic counseling and planning management

Academia Molecular Biology and Genomics
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder caused by mutations in the ALDH3A2 gene, resulting in a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH).
Ishwarya Chandrashekar Thirugnanam, Vigneshwaran Gurunadan, Srikanth Jilla, Sreelatha Komandur, Qurratulain Hasan   +4 more
doaj   +1 more source

Array Comparative Genomic Hybridization in Sarcomas [PDF]

, 2007
Over the past years, much research on sarcomas based on low-resolution cytogenetic and molecular cytogenetic methods has been published, leading to the identification of genetic abnormalities partially underlying the tumourigenesis. Continued progress in
Kaur, Sippy
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