50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
3 citations
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November 2021 in “Applied Microscopy” This article presents a comprehensive overview of hair microscopy techniques and their diagnostic potential for systemic and cutaneous disorders, emphasizing its usefulness in resource-limited settings and highlighting the underutilization of this non-invasive method due to lack of awareness.
3 citations
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March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
December 2022 in “The Turkish Journal of Pediatrics” This study reported that hair microscopy can help diagnose rare pediatric neurological diseases, as specific hair characteristics were linked to conditions like giant axonal neuropathy, Griscelli syndrome, and Menkes disease.
8 citations
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August 2009 in “Pediatric transplantation” This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.