Results 11 to 20 of about 1,639,589 (408)
American Society of Nephrology. Clinical Journal, 2020 Autosomal dominant polycystic kidney disease is characterized by progressive development and enlargement of kidney cysts, leading to ESKD. Because the kidneys are under high metabolic demand, it is not surprising that mounting evidence suggests that a ...
Kristen L. Nowak, K. Hopp
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Definitions, 2020 Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. "Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. "Dominant" means that a single copy of the disease-associated
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Autosomal dominant vitreoretinochoroidopathy
Definitions, 2020 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract.
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Steatocystoma Multiplex-A Rare Genetic Disorder: A Case Report and Review of the Literature [PDF]
Journal of Clinical and Diagnostic Research, 2013 A 17 years old female presented with multiple asymptomatic cutaneous cysts all over body, sparing the head and neck region. The microscopic examination of the cysts showed the features of steatocystoma multiplex.
Hemlata T. Kamra +3 more
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2014, 137 (10), pp.2657-2663, 2020 Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv +1 more source
DINs: Deep Interactive Networks for Neurofibroma Segmentation in Neurofibromatosis Type 1 on Whole-Body MRI [PDF]
IEEE Journal of Biomedical and Health Informatics, 2021, 2021 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that involves the central and peripheral nervous systems. Accurate detection and segmentation of neurofibromas are essential for assessing tumor burden and longitudinal tumor size changes.
arxiv +1 more source
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]
, 2019 Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M +5 more
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Autosomal dominant hypocalcemia
Definitions, 2020 Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little ...
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Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease [PDF]
Movement Disorders, 2023, 38 (9), pp.1756-1757, 2023 Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson disease.
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Autosomal Dominant Partial Epilepsies
Pediatric Neurology Briefs, 2000 The clinical, electrophysiologic, and genetic characteristics of autosomal dominant partial epilepsy were studied in 71 patients and 33 non-epileptic at-risk family members in 19 European families followed at the Hopital Universitaire de Geneve ...
J Gordon Millichap
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