Results 251 to 260 of about 1,156,853 (299)

The Chicago variant of clinical galactosemia

Human Genetics, 1977
A new variant of clinical galactosemia with two hitherto unidentified alleles on the transferase locus in one family is described. This new clinical variant of transferase has 25% of normal control activity in blood and in skin fibroblasts, and the patient accumulates galactose-1-phosphate in blood on an unrestricted galactose diet.
C M, Chacko, R S, Wappner, I K, Brandt, H L, Nadler   +3 more
openaire   +2 more sources

Clinical variants of galactosemia

Metabolism, 1967
Abstract This paper summarizes current thinking on the methods for the assay of galactose-1-phosphate uridyl transferase and how they are being used to detect clinical variants of galactosemia.
openaire   +2 more sources

Glucocorticoid receptor variants: clinical implications

The Journal of Steroid Biochemistry and Molecular Biology, 2002
Following exposure to stress, cortisol is secreted from the adrenal cortex under the control of the hypothalamic-pituitary-adrenal axis (HPA-axis). Central in the regulation of the HPA-axis is a two tied corticosteroid-receptor system, comprised of high and low affinity receptors, the mineralocorticoid receptor (MR) and the glucocorticoid receptor (GR),
R H, DeRijk, M, Schaaf, E R, de Kloet
openaire   +2 more sources

Multiplexed assays of variant effect for clinical variant interpretation

Nature Reviews Genetics
The rapid expansion of clinical genetic testing has markedly improved the detection of genetic variants. However, most variants lack the evidence needed to classify them as pathogenic or benign, resulting in the accumulation of variants of uncertain significance that cannot be used to diagnose or guide treatment of disease.
Abbye E. McEwen, Malvika Tejura, Shawn Fayer, Lea M. Starita, Douglas M. Fowler   +4 more
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CLINICAL VARIANTS OF PRESUMED ACUTE FOVEALITIS

RETINAL Cases & Brief Reports, 2022
Purpose: To describe four eyes of three patients with presumed acute fovealitis to expand the clinical variants of this recently described disorder. Method: The patients underwent a comprehensive ophthalmic examination, including multimodal imaging and electrophysiological tests.
Remo Turchetti, Moraes, Raul N G, Vianna, Eduardo, Cunha de Souza, Lucas Silveira, Moraes   +3 more
openaire   +2 more sources

A Review of the Clinical Variants and the Management of Psoriasis

Advances in Skin & Wound Care, 2013
To enhance the learner's competence with knowledge of the clinical variants and management of psoriasis.This continuing education activity is intended for physicians and nurses with an interest in skin and wound care.After participating in this educational activity, the participant should be better able to:1.
Barry, Ladizinski, Kachiu C, Lee, Erin, Wilmer, Afsaneh, Alavi, Nisha, Mistry, R Gary, Sibbald   +5 more
openaire   +2 more sources

Clinical Variants of Tardive Dyskinesia in Japan

Psychiatry and Clinical Neurosciences, 1991
Abstract: Involuntary movement disorders were investigated in a psychiatric hospital in Japan. The prevalence of tardive dyskinesia was 9.9% and four clinical variants of tardive dyskinesia could be classified. Of the 716 patients, tardive dystonia was identified in 15 cases, tardive akathisia in one, respiratory dyskinesia in two and rabbit syndrome ...
T, Inada, G, Yagi, K, Kaijima, K, Ohnishi, M, Kamisada, R W, Rockhold   +5 more
openaire   +2 more sources

Migraine: Genetic Variants and Clinical Phenotypes

Current Medicinal Chemistry, 2019
Migraine is a common, chronic neurovascular disorder caused by a complex interaction between genetic and environmental risk factors. In the last two decades, molecular genetics of migraine have been intensively investigated. In a few cases, migraine is transmitted as a monogenic disorder, and the disease phenotype cosegregates with mutations in ...
Innocenzo Rainero, Alessandro Vacca, Flora Govone, Annalisa Gai, Lorenzo Pinessi, Elisa Rubino   +5 more
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Clinical and Laboratory Update on the DEL Variant

Laboratory Medicine, 2014
Serological assays for the RhD blood group are based on detection of the RhD antigen on human red blood cells using a specific anti-D antibody. The weak expression of the RhD antigen in the DEL variant hinders the sensitivity of conventional serological assays.
Pornlada, Nuchnoi, Jairak, Thongbus, Apapan, Srisarin, Usanee, Kerdpin, Virapong, Prachayasittikul   +4 more
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[Clinical variants of acne].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 2006
Acne is a very common dermatosis with characteristic clinical features. It is a polymorphic disease. The clinical expression ranges from non-inflammatory closed and open comedones to inflammatory papules, pustules, and nodules. Most patients have a mixture of non-inflammatory and inflammatory lesions, although some have predominantly one or the other ...
T, Jansen, S, Grabbe, G, Plewig
openaire   +1 more source