Results 81 to 90 of about 69,884 (306)

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Painful tumors of the skin: “CALM HOG FLED PEN AND GETS BACK”

Clinical, Cosmetic and Investigational Dermatology, 2019
Philip R Cohen,1 Christopher P Erickson,2 Antoanella Calame2 1San Diego Family Dermatology, National City, CA, USA; 2Compass Dermatopathology, San Diego, CA, USA Abstract: Painful tumors of the skin present as dermal or subcutaneous nodules.
Cohen PR, Erickson CP, Calame A
doaj  

Elephantiasis nostras verrucosa: an atypical presentation following intrapelvic lymphoma [PDF]

, 2019
Elephantiasis nostras verrucosa is a progressively debilitating and disfiguring disease commonly presenting with verrucous, cobblestone-like papules, nodules, or plaques with nonpitting edema in the lower extremities.
Dahle, Sara E, Hadian, Yasmin, Isseroff, R Rivkah, Link, Daniel   +3 more
core  

A multi-gene phylogeny of Lactifluus (Basidiomycota, Russulales) translated into a new infrageneric classification of the genus [PDF]

, 2016
Infrageneric relations of the genetically diverse milkcap genus Lactifluus (Russulales, Basidiomycota) are poorly known. Currently used classification systems still largely reflect the traditional, mainly morphological, characters used for infrageneric ...
De Crop, Eske, Eberhardt, Ursula, Hackel, Jan, Halling, Roy E, Hyde, Kevin D, Moreau, Pierre-Arthur, Nuytinck, Jorinde, Roy, Mélanie, Stubbe, Dirk, Van de Putte, Kobeke, Verbeken, Annemieke, Wisitrassameewong, Komsit   +11 more
core   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, EarlyView.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Tetracycline Actions Relevant to Rosacea Treatment [PDF]

, 2009
Until today, the pathogenesis of rosacea is not known in detail. Yet in recent years evidence has been accumulating that rosacea with its common symptoms such as inflammatory lesions, erythema, telangiectasia, phymatous changes, and ocular symptoms is of
Korting, Hans Christian, Schöllmann, C.
core   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Miliary Osteoma Cutis: Report of a Case after Plant Injury

Case Reports in Clinical Practice
Osteoma cutis (OC) is a rare condition characterized by the presence of bone particles within the skin. One subtype of osteoma cutis is miliary osteoma cutis (MOC), which primarily affects middle-aged women and commonly occurs on the face.
Arshia Javadizadeh, Yasaman Naghibzadeh, Akram Rezaei, Mazaher Ramezani   +3 more
doaj   +1 more source

Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance

Case Reports in Dermatological Medicine, 2020
Background. Cutis laxa is a rare dermatosis that is inherited or acquired and clinically features loose, wrinkled, and redundant skin with decreased elasticity.
Sophia Z. Shalhout, Myrna R. Nahas, Reed E. Drews, David M. Miller   +3 more
doaj   +1 more source

Idiopathic calcinosis cutis of the scrotum: a case report and review of the literature

Journal of Medical Case Reports, 2018
BackgroundAbnormal deposition of calcium in the skin or subcutaneous tissue is termed calcinosis cutis. Idiopathic calcinosis cutis of the scrotum is an uncommon entity. The pathogenesis of idiopathic calcinosis cutis of the scrotum is debatable.
M. M. Aarif Syed, Aasiya Rajbhandari, Upama Paudel   +2 more
semanticscholar   +1 more source