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Identification of circRNA CDR1as/miR-214-3p regulatory axis in Legg-Calvé-Perthes disease.

Autor: Lan, Xia¹ (AUTHOR) ndyfy03777@ncu.edu.cn, Yu, Ronghui¹ (AUTHOR), Xu, Jianyun¹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 10/15/2024, Vol. 19 Issue 1, p1-12. 12p.

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Pancreatitis as a Main Consequence of APOC2‐Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.

Autor: Rabbani, Bahareh¹ (AUTHOR), Moghadam, Mohadeseh Aghli^2,3 (AUTHOR), Esmaeili, Shiva¹ (AUTHOR), Rabbani, Amirhassan⁴ (AUTHOR), Akbari, Bahman⁵ (AUTHOR), Mahdieh, Nejat^1,3,6 (AUTHOR) nmahdieh@yahoo.com, Olasz, Ferenc (AUTHOR) olasz.ferenc@abc.naik.hu

Publikováno v: International Journal of Genomics. 5/30/2024, Vol. 2024, p1-13. 13p.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Autor: Cengiz FB; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA., Yilmazer R; Yeditepe University, Medicine Faculty, Department of Ear Nose Throat Surgery, Istanbul, Turkey., Olgun L; Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey., Sennaroglu L; Department of Otorinolaryngology, Hacettepe University School of Medicine, Ankara, Turkey., Kirazli T; Department of Otolaryngology, Ege University School of Medicine, Izmir, 35040, Turkey., Alper H; Department of Radiology, Ege University School of Medicine, Izmir, 35040, Turkey., Olgun Y; Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey., Incesulu A; Department of Otorinolaryngology, Head and Neck Surgery, Eskisehir Osmangazi University, Eskisehir, Turkey., Atik T; Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey., Huesca-Hernandez F; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico., Domínguez-Aburto J; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico., González-Rosado G; Computed Tomography Service, National Institute of Rehabilitation, Mexico City, Mexico., Hernandez-Zamora E; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico., Arenas-Sordo ML; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico., Menendez I; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA., Orhan KS; Department of Otolaryngology and Head and Neck Surgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Avci H; Department of Otolaryngology and Head and Neck Surgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Mahdieh N; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran., Bonyadi M; Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran., Foster J 2nd; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA., Duman D; Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey., Ozkinay F; Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey., Blanton SH; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA., Bademci G; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA., Tekin M; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address: mtekin@med.miami.edu.

Publikováno v: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2017 Oct; Vol. 101, pp. 167-171. Date of Electronic Publication: 2017 Aug 08.