Výsledky vyhledávání - "Johanna, Elander"

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Autor: Johanna, Elander, Elizabeth M, McCormick, Maria, Värendh, Karin, Stenfeldt, Rebecca D, Ganetzky, Amy, Goldstein, Zarazuela, Zolkipli-Cunningham, Laura E, MacMullen, Rui, Xiao, Marni J, Falk, Johannes K, Ehinger

Publikováno v: Molecular Genetics and Metabolism. 137:230-238

In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e449011e98cf7871b90d41d6f4fad637
https://doi.org/10.1016/j.ymgme.2022.09.002

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Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation

Autor: Johanna Elander, Tove Ullmark, Hans Ehrencrona, Tord Jonson, Paul Piccinelli, Sofie Samuelsson, Karolina Löwgren, Karolina Falkenius-Schmidt, Johannes Ehinger, Karin Stenfeldt, Maria Värendh

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 159:111218

The aim of this study was to investigate genetic outcomes, analyze the family experience, and describe the process of implementing genetic sequencing for children with profound sensorineural hearing loss (SNHL) at a tertial audiological center in sou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b72caf910aa8ec948291151879862a
https://doi.org/10.1016/j.ijporl.2022.111218

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Cervical necrotizing fasciitis: descriptive, retrospective analysis of 59 cases treated at a single center

Autor: Agneta Larsson, Jonas Hydman, Britt Nordlander, Michael Nekludov, Staffan Eksborg, Johanna Elander

Publikováno v: European Archives of Oto-Rhino-Laryngology. 273:4461-4467

To provide retrospective, descriptive information on patients with cervical necrotizing fasciitis treated at a single center during the years 1998-2014, and to evaluate the outcome of a newly introduced treatment strategy. Retrospective analysis of c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a83791a2f922fda7b414ec2b5839894
https://doi.org/10.1007/s00405-016-4126-y

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Reply to the letter concerning article: 'Cervical necrotizing fasciitis: descriptive, retrospective analysis of 59 cases treated at a single center'

Autor: Britt Nordlander, Jonas Hydman, Agneta Larsson, Staffan Eksborg, Michael Nekludov, Johanna Elander

Publikováno v: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. 274(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf1216c65cc194015bf07aed4a88c2c
https://pubmed.ncbi.nlm.nih.gov/28260208

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