Publications by authors named "H Azaiez"

Purpose: The ClinGen Hearing Loss Gene Curation Expert Panel (GCEP) was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen's semi-quantitative framework. ClinGen mandates timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong, every 2-3 years.

Methods: Thirty-five GDRs met the criteria for recuration within two years of original curation.

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This paper examines the impact of biopolymers on hydraulic conductivity of soils, representing a key parameter for many environmental and geotechnical applications. The complexity of this relationship is compounded by researchers employing diverse approaches and presentation formats, resulting in apparent inconsistencies. However, this review intends to address these challenges by identifying various categories of biopolymers that influence the hydraulic conductivity and discuss the recent research findings.

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The co-occurrence of sensorineural hearing loss and male infertility has been reported in several instances, suggesting potential shared genetic underpinnings. One such example is the contiguous gene deletion of and genes, previously associated with deafness-infertility syndrome (DIS) in males. Fifteen males with both hearing loss and infertility from southern India after exclusion for the DIS contiguous gene deletion and the gene mutations are subjected to exome sequencing.

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Article Synopsis
  • - The study analyzed 127 individuals from 16 medical centers across 6 countries to examine the relationship between TMPRSS3 gene variants and hearing loss, revealing 47 unique variants and their impact on hearing thresholds.
  • - Individuals carrying missense variants showed different hearing loss progression rates and performance in speech recognition tests post-cochlear implant, with age at implantation being a critical factor.
  • - This research represents the largest investigation into TMPRSS3 genotype-phenotype correlations, offering valuable insights for genetic counseling and developing new treatments for hearing loss.
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