19 research outputs found
Carbonic Anhydrase IX is Not a Predictor of Outcomes in Non-Metastatic Clear Cell Renal Cell Carcinoma - A Digital Analysis of Tissue Microarray
Full text linkA Temperature Compensated CMOS Ring Oscillator for Wireless Sensing Applications
No full textInternational audienc
Evaluating plant stress conditions in paprika by comparing internal electrical conductivity, photosynthetic response, and sap flow
No full textLipid Peroxidation and Antioxidant System in the Tumor and in the Blood of Patients with Nasopharyngeal Carcinoma
No full textVariations In Multiple Syndromic Deafness Genes Mimic Non-Syndromic Hearing Loss
Get PDFThe genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.PubMedWoSScopu
Preservation efficiency and storage effects for viable and culturable Staphylococcus aureus
No full textMortaparib, a novel dual inhibitor of mortalin and PARP1, is a potential drug candidate for ovarian and cervical cancers
No full textMutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
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