RBM10‐TFE3 fusions: A FISH‐concealed anomaly in adult renal cell carcinomas displaying a variety of morphological and genomic features: Comprehensive study of six novel cases
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DOI: 10.1002/gcc.22985
Abstract: The accurate diagnosis of Xp11‐translocation renal cell carcinoma (RCC) in adults is challenging. TFE3 (located on chromosome X) fuses with a partner gene generally located on another chromosome. In rare cases TFE3 may fuse with… read more here.
Keywords: renal cell; study six; rbm10 tfe3; six novel ... See more keywords
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
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DOI: 10.1002/mgg3.1128
Abstract: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. read more here.
Keywords: identification six; syndrome type; waardenburg syndrome; six novel ... See more keywords
Seladoeflavones A-F, six novel flavonoids from Selaginella doederleinii.
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DOI: 10.1016/j.fitote.2016.11.014
Abstract: Six new flavonoids, seladoeflavones A-F (1-6), were isolated from the whole herbs of Selaginella doederleinii, together with one known flavonoid (7). Their structures including absolute configuration were characterized on the basis of extensive spectroscopic methods… read more here.
Keywords: seladoeflavones six; six novel; novel flavonoids; selaginella doederleinii ... See more keywords
Diversity of yeast species from Dutch garden soil and the description of six novel Ascomycetes
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DOI: 10.1093/femsyr/foy076
Abstract: &NA; A Citizen Science initiative by the Westerdijk Fungal Biodiversity Institute and the Utrecht University Museum gave rise to a project where fungal and yeast isolates were obtained and identified from Dutch soil samples. During… read more here.
Keywords: species dutch; diversity yeast; six novel; yeast ... See more keywords
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins
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DOI: 10.3390/genes12020295
Abstract: Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased… read more here.
Keywords: ancestral origins; mutational spectrum; clinical mutational; xeroderma pigmentosum ... See more keywords