De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta

Autor: Zhytnik, Lidiia, Maasalu, Katre, Duy, Ho Binh, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare

Background: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated. Methods: A comparative analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1018::46ac09415a77ddbb5996803899ab6b3a
http://hdl.handle.net/10062/72141

Недосконалий остеогенез та синдром Ескобара: унікальне поєднання орфанної генетичної патології в пацієнта (клінічне спостереження)

Autor: Khmyzov, Sergey, Sharmazanova, Olena, Lysenko, Nataliya, Pashenko, Andrey

Publikováno v: ORTHOPAEDICS, TRAUMATOLOGY and PROSTHETICS; № 2 (2017); 97-100
Ортопедия, травматология и протезирование; № 2 (2017); 97-100

A clinical case of a unique combination in a patient of a com­bination of rare genetic diseases — imperfect osteogenesis and Escobar syndrome is presented. Imperfect osteogenesis (os­teogenesis imperfecta, congenital fragility of bones, periostea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=scientific_p::1dcda5de6df4d949b5f0c297bc9773a3
http://otp-journal.com.ua/article/view/105597

IFITM5pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Autor: Zhytnik, Lidiia, Maasalu, Katre, Duy, Binh, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare

Publikováno v: Human Genomics; December 2019, Vol. 13 Issue: 1 p1-11, 11p

Quality of Life in Children With Achondroplasia Undergoing Paired Limb Lengthening With an External Fixator and Modified Distraction Control: Observational Nonrandomized Study.

Autor: Trofimchuk V; Department of Pediatrician Surgery, Non-Profit Joint Stock Company Astana Medical University, Astana, Kazakhstan., Dossanov B; Department of Pediatrician Surgery, Non-Profit Joint Stock Company Astana Medical University, Astana, Kazakhstan., Lozovoy V; Department of Pediatrician Surgery, Non-Profit Joint Stock Company Astana Medical University, Astana, Kazakhstan., Khmyzov S; Department of Pathology of the Spine and Joints of Children, Sitenko Institute of Spine and Joint Pathology, Kharkiv, Ukraine., Dossanova A; Department of Pediatrician Surgery, Non-Profit Joint Stock Company Astana Medical University, Astana, Kazakhstan., Angelov A; Department of Pediatrician Surgery, Non-Profit Joint Stock Company Astana Medical University, Astana, Kazakhstan., Pashenko A; Department of Pathology of the Spine and Joints of Children, Sitenko Institute of Spine and Joint Pathology, Kharkiv, Ukraine., Zhukenov O; Department of Pediatrician Surgery, Non-Profit Joint Stock Company Astana Medical University, Astana, Kazakhstan.

Publikováno v: JMIR rehabilitation and assistive technologies [JMIR Rehabil Assist Technol] 2024 Jan 24; Vol. 11, pp. e49261. Date of Electronic Publication: 2024 Jan 24.

De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta.

Autor: Zhytnik L; Department of Traumatology and Orthopedics, University of Tartu, Tartu, Estonia., Maasalu K; Department of Traumatology and Orthopedics, University of Tartu, Tartu, Estonia.; Clinic of Traumatology and Orthopedics, Tartu University Hospital, Tartu, Estonia., Duy BH; Hue University of Medicine and Pharmacy, Hue University, Hue, Vietnam., Pashenko A; Department of Pediatric Orthopedics, Sytenko Institute of Spine and Joint Pathology, AMS Ukraine, Kharkiv, Ukraine., Khmyzov S; Department of Pediatric Orthopedics, Sytenko Institute of Spine and Joint Pathology, AMS Ukraine, Kharkiv, Ukraine., Reimann E; Centre of Translational Medicine, University of Tartu, Tartu, Estonia.; Department of Pathophysiology, University of Tartu, Tartu, Estonia., Prans E; Department of Pathophysiology, University of Tartu, Tartu, Estonia., Kõks S; Centre for Comparative Genomics, Murdoch University, Perth, Australia.; Perron Institute for Neurological and Translational Science, University of Western Australia, Perth, Australia., Märtson A; Department of Traumatology and Orthopedics, University of Tartu, Tartu, Estonia.; Clinic of Traumatology and Orthopedics, Tartu University Hospital, Tartu, Estonia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e559. Date of Electronic Publication: 2019 Jan 24.