Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome

Autor: J, Radvanszky, M, Hyblova, D, Durovcikova, M, Hikkelova, E, Fiedler, L, Kadasi, J, Turna, G, Minarik, T, Szemes

Publikováno v: Clinical genetics. 91(2)

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GTPTS) are clinically similar disorders with some overlapping features. Although they are currently considered to be distinct clinical entities, both were found to be c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea5727b986a23732340079c551af2d1c
https://pubmed.ncbi.nlm.nih.gov/27452416

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Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via in- silico innovation.

Autor: Naveed M; Department of Biotechnology, Faculty of Science and Technology, University of Central Punjab, Lahore, 54590, Pakistan., Javed K; Department of Biotechnology, Faculty of Science and Technology, University of Central Punjab, Lahore, 54590, Pakistan., Aziz T; Laboratory of Animal Health Food Hygiene, Quality University of Ioannina, Arta 47132, Greece., Zafar A; Department of Biotechnology, Faculty of Science and Technology, University of Central Punjab, Lahore, 54590, Pakistan., Fatima M; Department of Biotechnology, Faculty of Science and Technology, University of Central Punjab, Lahore, 54590, Pakistan., Ali I; Department of Biotechnology, Faculty of Science and Technology, University of Central Punjab, Lahore, 54590, Pakistan., Khan AA; Department of Biotechnology University of Malakand, Chakdara 18800, Pakistan., Albekairi TH; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia.

Publikováno v: Zeitschrift fur Naturforschung. C, Journal of biosciences [Z Naturforsch C J Biosci] 2024 Jul 12. Date of Electronic Publication: 2024 Jul 12.

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Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform.

Autor: Milella, Maria Serena¹ (AUTHOR) serena.milella@gmail.com, Geminiani, Michela^1,2 (AUTHOR) alfonso.trezza2@unisi.it, Trezza, Alfonso¹ (AUTHOR) anna.visibelli2@unisi.it, Visibelli, Anna¹ (AUTHOR) daniela.braconi@unisi.it, Braconi, Daniela¹ (AUTHOR) annalisa.santucci@unisi.it, Santucci, Annalisa^1,2,3 (AUTHOR)

Publikováno v: Cells (2073-4409). Jun2024, Vol. 13 Issue 12, p1072. 17p.