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Human Genetics 

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  1. 05-01-2024 | EditorialNotes

    The shifting sands of human ARTs and Genetics in 2024

  2. 12-11-2022 | ReviewPaper

    Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies

    According to the Clinical Genomic Database of the National Human Genome Research Institute, autosomal and X-linked genetic disorders account for a sizable portion of diseases, with approximately 5000 known protein-coding genes specifically …

  3. 01-06-2020 | OriginalPaper

    Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use

    The safety of any new drug or biologic product in development is paramount to the regulatory approval process. Safety problems can manifest at any stage and result in failure to bring a potential drug to market. Notably, safety signals can arise …

  4. 14-06-2022 | Abstract

    Abstracts from the 24th Annual Meeting of the Irish Society of Human Genetics

    Virtual Conference, 17th September 2021
  5. 01-02-2018 | ReviewPaper

    Combining Human and Rodent Genetics to Identify New Analgesics

    Most attempts at rational development of new analgesics have failed, in part because chronic pain involves multiple processes that remain poorly understood. To improve translational success, one strategy is to select novel targets for which there …

  6. 01-10-2021 | EditorialNotes

    Genomic insights into human development: time to upgrade reproductive genetics

  7. Open Access 01-02-2020 | Ovarian Cancer | ReviewPaper

    Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH)

    Germline/somatic BRCA-mutated ovarian carcinomas (OC) are associated to have better response with platinum-based chemotherapy and long-term prognosis than non-BRCA-associated OCs. In addition, these mutations are predictive factors to response to …

  8. 01-02-2021 | Events

    Abstracts From the 23rd Annual Meeting of the Irish Society of Human Genetics

    Virtual Conference, 25th September 2020
  9. 01-02-2021 | EditorialNotes

    How genetics human ART style is making dreams come true: the stairway to eugenics

  10. 01-03-2016 | ReviewPaper

    Alcohol and the Human Brain: a Systematic Review of Recent Functional Neuroimaging and Imaging Genetics Findings

    New information from neuroimaging studies on alcohol use disorders (AUDs) is available which necessitates an update on our review on alcohol and the human brain published in 2010. Here, we provide an overview on functional Magnetic Resonance …

  11. 01-12-2014 | ReviewPaper

    Human genetics of diabetic retinopathy

    There is evidence demonstrating that genetic factors contribute to the risk of diabetic retinopathy (DR). Genetics variants, structural variants (copy number variation, CNV) and epigenetic changes play important roles in the development of DR.

  12. Open Access 01-04-2019 | Sarcopenia | ReviewPaper

    Genetics of Bone and Muscle Interactions in Humans

    Osteoporosis and sarcopenia are common and costly comorbid diseases of aging, and there is an urgent need to prevent and treat both to reduce their associated morbidity and mortality [ 1 ••]. A burgeoning body of work shows that they share many …

  13. 01-03-2020 | EditorialNotes

    Novel insights into the genetics of early human development: PGT as a catalyst for reform

  14. 01-10-2014 | ReviewPaper

    The sclerostin story: From human genetics to the development of novel anabolic treatment for osteoporosis

    Sclerosteosis and Van Buchem disease are two rare bone sclerosing disorders characterized by increased bone mineral density, tall stature and entrapment of cranial nerves due to overgrowth of a highly dense bone. Recent advances in human genetics

  15. 01-03-2020 | OriginalPaper

    Beyond Mendelian Genetics: Anticipatory Biomedical Ethics and Policy Implications for the Use of CRISPR Together with Gene Drive in Humans

    Clustered regularly interspaced short palindromic repeats (CRISPR) genome editing has already reinvented the direction of genetic and stem cell research. For more complex diseases it allows scientists to simultaneously create multiple genetic …

  16. 01-06-2018 | ReviewPaper

    Human Genetics of Sclerosing Bone Disorders

    In order to maintain a healthy skeleton, bone tissue needs to be renewed and replaced continuously. Bone remodeling is the cyclic process in which the bone tissue is broken down by the resorptive osteoclasts after which it is formed anew by …

  17. Open Access 01-12-2018 | ReviewPaper

    Genetics of the human Y chromosome and its association with male infertility

    The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences …

  18. 01-02-2018 | ReviewPaper

    Human Genetics of Addiction: New Insights and Future Directions

    Addiction is a chronic, relapsing disease that alters the brain’s reward circuitry and consequently leads to compulsive drug seeking and other behavioral changes. The long-lasting biological effects of drug exposure cause a multitude of adverse …

  19. Open Access 01-12-2016 | Report

    Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

    The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies ( http://www.cags.org.ae ) in Dubai, United Arab Emirates from 21 to 23 January, 2016. The PAHGCs are …

  20. 01-12-2017 | ReviewPaper

    HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics

    Epidemiological studies have consistently demonstrated an inverse association between plasma high-density lipoprotein cholesterol (HDL-C) levels and coronary heart disease (CHD) [ 1 – 3 ]. This association has been traditionally attributed to the …

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