Eva Maria Cecilia Redfors

• Marbach, Felix; Rustad, Cecilie; Rieß, Angelika; Đukić, Dejan; Hsieh, Tzung-Chien & Jobani, Itanar [Vis alle 21 forfattere av denne artikkelen] (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. American Journal of Human Genetics. ISSN 0002-9297. 104(4), s. 749–757. doi: 10.1016/j.ajhg.2019.02.021. Vis sammendrag

  Over a relatively short period of time, the clinical geneticist’s ‘‘toolbox’’ has been expanded by machine-learning algorithms for image analysis, which can be applied to the task of syndrome identification on the basis of facial photographs, but these technologies harbor potential beyond the recognition of established phenotypes. Here, we comprehensively characterized two individuals with a hitherto unknown genetic disorder caused by the same de novo mutation in LEMD2 (c.1436C>T;p.Ser479Phe), the gene which encodes the nuclear envelope protein LEM domain-containing protein 2 (LEMD2). Despite different ages and ethnic backgrounds, both individuals share a progeria-like facial phenotype and a distinct combination of physical and neurologic anomalies, such as growth retardation;hypoplastic jaws crowded with multiple supernumerary, yet unerupted, teeth; and cerebellar intention tremor. Immunofluorescence analyses of patient fibroblasts revealed mutation-induced disturbance of nuclear architecture, recapitulating previously published data in LEMD2-deficient cell lines, and additional experiments suggested mislocalization of mutant LEMD2 protein within the nuclear lamina.Computational analysis of facial features with two different deep neural networks showed phenotypic proximity to other nuclear envelopathies. One of the algorithms, when trained to recognize syndromic similarity (rather than specific syndromes) in an unsupervised approach, clustered both individuals closely together, providing hypothesis-free hints for a common genetic etiology. We show that are current de novomutation in LEMD2 causes a nuclear envelopathy whose prognosis in adolescence is relatively good in comparison to that of classical Hutchinson-Gilford progeria syndrome, and we suggest that the application of artificial intelligence to the analysis of patient images can facilitate the discovery of new genetic disorders.

• Redfors, Eva Maria Cecil; Jensen, Janicke Liaaen; Storhaug, Kari ; Prescon, Trine & Larheim, Tore Arne (2013). Cherubism: panoramic and CT features in adults. Dentomaxillofacial Radiology. ISSN 0250-832X. 42(10). doi: 10.1259/dmfr.20130034. Fulltekst i vitenarkiv
• Prescott, Trine; Redfors, Eva Maria Cecil; Rustad, Cecilie; Eiklid, Kristin Louise; Geirdal, Amy Østertun & Storhaug, Kari [Vis alle 7 forfattere av denne artikkelen] (2013). Characterization of a Norwegian Cherubism Cohort; molecular genetic findings, oral manifestations and quality of life. European Journal of Medical Genetics. ISSN 1769-7212. 56(3), s. 131–137. doi: 10.1016/j.ejmg.2012.12.008.

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• Larheim, Tore Arne; Westesson, Per-Lennart; Knutsen, Bjørn Mork; Riis, Ulf Harald; Hol, Caroline & Redfors, Eva Maria Cecil [Vis alle 9 forfattere av denne artikkelen] (2018). Cone Beam Computed Tomography, Maxillofacial Imaging Second Edition. Springer. ISSN 978-3-319-53317-9. s. 515–562.
• Jensen, Janicke Liaaen; Prescott, Trine; Rustad, Cecilie; Redfors, Eva Maria Cecil & Storhaug, Kari (2011). Characterization of the Norwegian Cherubism Cohort.
• Jensen, Janicke Liaaen; Prescott, Trine; Rustad, Cecilie; Redfors, Eva Maria Cecil & Storhaug, Kari (2011). Characterisation of the Norwegian Cherubism Cohort.
• Riis, Ulf; Redfors, Eva Maria Cecil; Hol, Caroline; Arvidsson, Linda Zamoline; Larheim, Tore Arne & Hopp, Einar (2009). Florid osseous dysplasia of the jaw skeleton: CT and MRI observations.
• Larheim, Tore Arne; Møystad, Anne; Svanæs, Dagfinn B.; Knutsen, Bjørn Mork; Arvidsson, Linda Zamoline & Hol, Caroline [Vis alle 8 forfattere av denne artikkelen] (2008). Nytt og nyttig om kjeve- og ansiktsradiologi.
• Larheim, Tore Arne; Redfors, Eva Maria Cecil & Arvidsson, Linda Zamoline (2007). Kjeve- og ansiktsradiologi anno 2007.

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