Results 41 to 50 of about 1,627,653 (237)
Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient [PDF]
Anais Brasileiros de Dermatologia, 2014 Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the ...
João Roberto Antonio +3 more
doaj +2 more sources
Molecular Therapy: Nucleic Acids, 2018 Recessive dystrophic epidermolysis bullosa is a rare and severe genetic skin disease resulting in blistering of the skin and mucosa. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a wide variety of mutations in COL7A1-encoding type VII ...
Araksya Izmiryan +5 more
doaj +1 more source
Anais Brasileiros de Dermatologia, 2013 Linear Darier is a rare variant of Darier's Disease. The keratotic papules follow Blaschko's lines, characterizing the cutaneous mosaicism. We report the case of a 42-year-old woman who presented with small, linearly distributed, reddish-brown papules on
Fernanda Guedes Lavorato +5 more
doaj +1 more source
, 2004 Dermatology continues to develop at a steady pace. In the past few years there have been exciting advances in our understanding of skin structure and function in health and disease and progress in genetics, epidemiology, immunology, pharmacology and ...
Boffa, Michael J.
core +1 more source
The impact of age on genetic risk for common diseases
PLoS Genetics, 2021 Inherited genetic variation contributes to individual risk for many complex diseases and is increasingly being used for predictive patient stratification.
Xilin Jiang, Chris Holmes, G. McVean
semanticscholar +1 more source
F1000Research, 2014 Solitary mastocytoma, a rare dermatological entity accounts for 10-15% of cutaneous mastocytosis. We report a rare case of solitary mastocytoma presenting at birth, treated successfully with topical tacrolimus. Along with reassurance and strict avoidance
M. S. Sukesh +4 more
doaj +1 more source
Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]
, 2020 The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo +3 more
core
Anti-tumor necrosis factor-alpha therapy during murine Klebsiella pneumoniae bacteremia: increased mortality in the absence of liver injury. [PDF]
, 2003 Klebsiella pneumoniae is a leading cause of gram-negative bacterial pneumonia, often resulting in bacteremia concurrent with the localized pulmonary infection.
Cogen, Anna L +4 more
core +1 more source
Spontaneous melanotic lesions in axillary seabream, Pagellus acarne (Risso) [PDF]
, 2013 In this paper, we describe spontaneous melanotic lesions in the skin of axillary seabream, Pagellus acarne (Risso) from a defined area of the Portuguese Coast, located in Cabo da Roca and Foz do Arelho.
Branco, Sandra, Ramos, Paula, Victor, P
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Multi-omics integration reveals molecular networks and regulators of psoriasis. [PDF]
, 2019 BackgroundPsoriasis is a complex multi-factorial disease, involving both genetic susceptibilities and environmental triggers. Genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) have been carried out to identify genetic ...
Arneson, Douglas +5 more
core +3 more sources