Results 11 to 20 of about 106,656 (261)
Founder Effects in Hereditary Hemorrhagic Telangiectasia [PDF]
Journal of Clinical Medicine, 2021 A founder effect can result from the establishment of a new population by individuals from a larger population or bottleneck events. Certain alleles may be found at much higher frequencies because of genetic drift immediately after the founder event. We provide a systematic literature review of the sporadically reported founder effects in hereditary ...
Tamás Major +4 more
openaire +2 more sources
Frontiers in Pediatrics, 2021 Microcephaly (MCPH) is a genetically heterogeneous disorder characterized by non-progressive intellectual disability, small head circumference, and small brain size compared with the age- and sex-matched population.
Niaz Muhammad Khan +11 more
doaj +1 more source
Traces of Human-Mediated Selection in the Gene Pool of Red Deer Populations
Animals, 2023 In this study, we analysed the effect of human-mediated selection on the gene pool of wild and farmed red deer populations based on genotyping-by-sequencing data.
Nina Moravčíková +8 more
doaj +1 more source
Nefrología, 2020 Resumen: Objetivo: Demostrar que la variante no descrita en el gen PKD1 c.7292T>A, identificada en cuatro familias de la comarca de la Alpujarra de Granada, es la causante de la poliquistosis renal autosómica dominante (PQRAD). Esta variante consiste en
Carmen García-Rabaneda +9 more
doaj +1 more source
Applications of genomic research in pediatric endocrine diseases [PDF]
Clinical and Experimental Pediatrics, 2023 Recent advances in molecular genetics have advanced our understanding of the molecular mechanisms involved in pediatric endocrine disorders and now play a major role in mainstream medical practice.
Ja Hye Kim, Jin-Ho Choi
doaj +1 more source
BMC Medical Genetics, 2012 Background Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation ...
Teirlinck Carolien H +10 more
doaj +1 more source
Founder effects and silvereyes [PDF]
Proceedings of the National Academy of Sciences, 2002 Patterns of variation in nature have played a large role in the development of explanations for biological richness at the species level. One such influential pattern has been the morphological distinctiveness of small populations on islands at the periphery of a large continental land mass (1).
openaire +2 more sources
SAGE Open, 2022 The founder is the cornerstone of the establishment of a company, and plays a vital role in the decision-making and cohesion of the company, as well as the operation of the company, and thus has a positive impact on the growth and performance of the ...
Bei Lyu, Hui Chen
doaj +1 more source
Frontiers in Plant Science, 2020 Among invasive species, aquatic plants pose serious threats to local biodiversity and ecosystem functions. Spartina alterniflora Loisel. (Poaceae), native to the eastern United States, was introduced unintentionally into Japan (Aichi and Kumamoto ...
Yu Maebara +7 more
doaj +1 more source
Cells, 2021 We has identified a founder homozygous E3_E4 del: 2870 bp deletion + 9 bp insertion in AGT gene encoding angiotensinogen responsible for autosomal recessive renal tubular dysgenesis (ARRTD) with nearly-fatal outcome.
Min-Hua Tseng +11 more
doaj +1 more source