Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Konstantinia Almpani"'
Autor:
Man Hung, Amir Mohajeri, Konstantinia Almpani, Gabriel Carberry, John F. Wisniewski, Kade Janes, Brooklyn Janes, Chase Hardy, Golnoush Zakeri, Ben Raymond, Heather Trinh, Jordan Bretner, Val J. Cheever, Rafael Garibyan, Perry Bachstein, Frank W. Licari
Publikováno v:
Medical Sciences, Vol 12, Iss 3, p 39 (2024)
Participant recruitment is one of the most challenging aspects of a clinical trial, directly impacting both the study’s duration and the quality of its results. Therefore, reporting successful recruitment strategies is crucial. This study aimed to
Externí odkaz:
https://doaj.org/article/f7cb05904dcb4109b807b6f559ca317c
Publikováno v:
Diagnostics, Vol 14, Iss 16, p 1710 (2024)
Background: The maxillary labial frenum (MLF) is a soft tissue fold connecting the upper lip to the alveolar process. Abnormal attachment can cause periodontal, functional, and esthetic problems. Differential diagnosis is important and can prevent un
Externí odkaz:
https://doaj.org/article/466668a495c64594a69109d2ee04cb35
Publikováno v:
Nutrients, Vol 15, Iss 10, p 2346 (2023)
Introduction: Oral cancer is a serious health problem with an increasing incidence worldwide. Researchers have studied the potential anti-cancerous action of vitamin D and its association with several cancers including oral cancer. The purpose of thi
Externí odkaz:
https://doaj.org/article/7efc9bdf29eb4e6c9be4f71f6b47e1b8
Autor:
Fahad K. Kidwai, Byron W. H. Mui, Konstantinia Almpani, Priyam Jani, Cyrus Keyvanfar, Kulsum Iqbal, Sriram S. Paravastu, Deepika Arora, Pamela Orzechowski, Randall K. Merling, Barbara Mallon, Vamsee D. Myneni, Moaz Ahmad, Paul Kruszka, Maximilian Muenke, Jeremiah Woodcock, Jeffrey W. Gilman, Pamela G. Robey, Janice S. Lee
Publikováno v:
Journal of Developmental Biology, Vol 9, Iss 4, p 39 (2021)
In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized by uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis,
Externí odkaz:
https://doaj.org/article/f1ce3cbb92f44d77abee4940f92d27f1
Autor:
Denise K Liberton, Payal Verma, Konstantinia Almpani, Peter W Fung, Rashmi Mishra, Snehlata Oberoi, Figen Ç Şenel, James K Mah, John Huang, Bonnie L Padwa, Janice S Lee
Publikováno v:
Journal of Developmental Biology, Vol 8, Iss 1, p 2 (2020)
Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore
Externí odkaz:
https://doaj.org/article/8c43202b4e214473a2d5352e8fb0032b
Autor:
Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
Publikováno v:
Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in
Autor:
Pamela A. Frischmeyer-Guerrerio, Janice S. Lee, Cyrus Keyvanfar, Rashmi Mishra, Denise K. Liberton, Konstantinia Almpani, Priyam Jani, Quynh C Nguyen, Olivier Duverger, Pamela Orzechowski
Publikováno v:
Journal of Medical Genetics
Background Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations al
Autor:
Byron W H Mui, Jeremiah W. Woodcock, Randall K. Merling, Vamsee D. Myneni, Kulsum Iqbal, Fahad Kidwai, Pamela Orzechowski, Barbara S. Mallon, Jeffrey W. Gilman, Deepika Arora, Pamela Gehron Robey, Konstantinia Almpani, Paul Kruszka, Maximilian Muenke, Moaz Ahmad, Janice S. Lee, Sriram S Paravastu, Cyrus Keyvanfar, Priyam Jani
Publikováno v:
Journal of Developmental Biology, Vol 9, Iss 39, p 39 (2021)
Journal of Developmental Biology
Journal of Developmental Biology
In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized by uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis,
Publikováno v:
Journal of the American College of Surgeons. 233:S198-S199
Autor:
Janice S. Lee, Snehlata Oberoi, Konstantinia Almpani, J. Mah, K. Honer, Payal Verma, Denise K. Liberton
Publikováno v:
Journal of Oral and Maxillofacial Surgery. 79:e84-e85