Genetic Aspects of Necrobiotic Xanthogranuloma.
Sign Up to like & getrecommendations! Published in 2024 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2024.2921
Abstract: This genetic association study examines the genetic aspects of necrobiotic xanthogranuloma in 3 patients in China. read more here.
Keywords: necrobiotic xanthogranuloma; genetic aspects; aspects necrobiotic; dermatology ... See more keywords
Genetic aspects of ataxias in a cohort of Turkish patients
Sign Up to like & getrecommendations! Published in 2024 at "Neurological Sciences"
DOI: 10.1007/s10072-024-07484-x
Abstract: Ataxia is one of the clinical findings of the movement disorder disease group. Although there are many underlying etiological reasons, genetic etiology has an increasing significance thanks to the recently developing technology. The aim of… read more here.
Keywords: ataxias cohort; genetic aspects; etiology; cohort turkish ... See more keywords
Epicoccum sorghinum in food: occurrence, genetic aspects and tenuazonic acid production
Sign Up to like & getrecommendations! Published in 2018 at "Current opinion in food science"
DOI: 10.1016/j.cofs.2018.05.011
Abstract: Epicoccum sorghinum, a producer of tenuazonic acid (TeA), is frequently isolated from a variety of cereals and is considered one of the major component of sorghum grain-mold disease complex. Over the last decade, phylogenetic analyses… read more here.
Keywords: tenuazonic acid; epicoccum sorghinum; production; genetic aspects ... See more keywords
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Sign Up to like & getrecommendations! Published in 2021 at "Neuropediatrics"
DOI: 10.1055/s-0041-1735250
Abstract: Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype… read more here.
Keywords: genetic aspects; clinical genetic; disease; onset pompe ... See more keywords
37 Genetic aspects of livestock adaptation
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Animal Science"
DOI: 10.1093/jas/skz258.069
Abstract: Livestock adaptation to less than favorable ambient has a genetic basis. Estimates of additive genetic variance and narrow sense heritability for % intramuscular fat in Hereford varied across United States geography quantifications evaluated in random… read more here.
Keywords: component; livestock adaptation; additive genetic; genetic aspects ... See more keywords
Genetic aspects and environmental sources of microsporidia that infect the human gastrointestinal tract.
Sign Up to like & getrecommendations! Published in 2017 at "Transactions of the Royal Society of Tropical Medicine and Hygiene"
DOI: 10.1093/trstmh/trx001
Abstract: Enterocytozoon bieneusi and Encephalitozoon intestinalis are microsporidia that infect the human gastrointestinal (GI) tract. Each of these microsporidia has been shown to infect various non-human hosts (mammalian and avian), raising the possibility of inter-species transmission,… read more here.
Keywords: gastrointestinal tract; infect human; microsporidia infect; tract ... See more keywords
Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13058
Abstract: Sjögren‐Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long‐chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various… read more here.
Keywords: clinical biochemical; larsson syndrome; genetic aspects; gren larsson ... See more keywords
Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway
Sign Up to like & getrecommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-025-03641-3
Abstract: Bardet–Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults… read more here.
Keywords: aspects bardet; genetic aspects; biedl syndrome; clinical genetic ... See more keywords
Genetic aspects of Gorlin‒Goltz syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Orvosi hetilap"
DOI: 10.1556/650.2020.31933
Abstract: Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érintő, rendkívül változatos megjelenésű és genetikailag is heterogén betegség. Bár a tudományos kutatások egyik kedvenc területe, az aránylag… read more here.
Keywords: goltz syndrome; disease; genetic aspects; gorlin goltz ... See more keywords
Genetic Aspects of Glial Cells Regarding Neurodegenerative Diseases.
Sign Up to like & getrecommendations! Published in 2018 at "Current pharmaceutical design"
DOI: 10.2174/1381612823666170828134055
Abstract: Glial cells (also known as glia or neuroglia) are structures which are found in large numbers throughout the nervous system, fulfilling multiple functions, such as regulating the synapses, providing structure, support and nutrition, contributing towards… read more here.
Keywords: aspects glial; glial cells; appearance; neurodegenerative diseases ... See more keywords
Clinical and Genetic Aspects of Huntington's Disease in the Malian Population.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Huntington's disease"
DOI: 10.3233/jhd-220529
Abstract: BACKGROUND Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years… read more here.
Keywords: huntington disease; disease; genetic aspects; clinical genetic ... See more keywords