Ansættelse. Publikationer og bogkapitler

Transkript

1 Anja Lisbeth Frederiksen Overlæge, ph.d., klinisk lektor Human Genetik Telefon: Ansættelse Klinisk lektor Human Genetik Syddansk Universitet 1 mar mar Overlæge, Klinisk Genetisk Afd. OUH Odense Universitetshospital Odense, Danmark 1 mar present Publikationer og bogkapitler 1. Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases Frederiksen, A., Rossing, M., Hermann, P., Ejersted, C., Thakker, R. V. & Frost, M., 1 sep. 2019, I : The Journal of clinical endocrinology and metabolism. 104, 9, s Mitochondrial mutation m.3243a>g associates with insulin resistance in non-diabetic carriers. Langdahl, J. H., Frederiksen, A. L., Vissing, J., Frost, M., Yderstræde, K. B. & Andersen, P. H., jun. 2019, I : Endocrine Connections. 8, 7, s Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study Frost, M., Tencerova, M., Andreasen, C. M., Levin Andersen, T., Ejersted, C. A., Svaneby, D., Kassem, M., Whyte, M. P. & Frederiksen, A. L., apr. 2019, I : Bone. 121, s Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark : A Nationwide Study Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., mar. 2019, I : Thyroid. 29, 3, s Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark : a nationwide study Danish Thyroid Cancer group (DATHYRCA), 2019, I : Clinical Epidemiology. 11, s Diagnostik og behandling af hypofosfatasi Hepp, N., Frederiksen, A. L., Khosravi, J. & Jensen, J-E. B., 2019, I : Ugeskrift for Laeger. 181, 10, V Incidence and prevalence of sporadic and hereditary MTC in Denmark : a nationwide study Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Djurhuus, B. D., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., 1 jun. 2018, I : Endocrine Connections. 7, 6, s Lecocytes mutation load declines with age in carriers of the m.3243a>g mutation: A 10-year Prospective Cohort Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstraede, K. B., Vissing, J., Dunø, M., Thomassen, M. & Frederiksen, A. L., apr. 2018, I : Clinical Genetics. 93, 4, s

2 9. Hereditære bindevævssygdomme Tarp, U., Harboe Nygaard, R. & Frederiksen, A. L., 2018, Reumatologi. Voss, A., Manniche, C., Mašić, D., Hauge, E-M. & Elkjær Johannsen, F. (red.). 4. udg. København: FADL's Forlag, s Publikation: Bidrag til bog/antologi/rapport/konference-proceeding Bidrag til bog/antologi Undervisning peer review 10. Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark : a nationwide study Rasmussen, U., Schytte, S., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., 2018, I : Clinical Epidemiology. 10, s mdna3243a>g Frederiksen, A. L., Beck-Nielsen, H. & Draznin, B., 2018, Atypical Diabetes: Pathophysiology, Clinical Presentations, and Treatment Options. Draznin, B., Philipson, L. H. & McGill, J. B. (red.). American Diabetes Association Publikation: Bidrag til bog/antologi/rapport/konference-proceeding Bidrag til bog/antologi Undervisning 12. Bone morphology in IKBKG (NEMO) mutation positive women: A case-control study Frost, M., Tencerova, M., Ejersted, C. A., Svaneby, D., Levin Andersen, T., Kassem, M., McAlister, W. H., Novack, D. V., Whyte, M. P. & Frederiksen, A. L., 2017, I : Journal of Bone and Mineral Research. 32, S1, s. S395 1 s., MO0710. Publikation: Bidrag til tidsskrift Konferenceabstrakt i tidsskrift Forskning peer review 13. Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism: A case of two adult siblings with two novel mutations in PNPLA6 Langdahl, J. H., Frederiksen, A. L., Nguyen, N. N. T. T., Brusgaard, K. & Juhl, C. B., 2017, I : European Journal of Medical Genetics. 60, 2, s Distribution of RET mutations in multiple endocrine neoplasia 2 in Denmark : a nationwide study Sloth Mathiesen, J., Kroustrup, J. P., Vestergaard, P., Krag, K. S., Poulsen, P. L., Rasmussen, Å. K., Feldt- Rasmussen, U., Gaustadnes, M., Ørntoft, T. F., Nielsen, F. C., Brixen, K., Godballe, C. & Frederiksen, A. L., 2017, I : Thyroid. 27, 2, s Founder effect of the RET C611Y mutation in multiple endocrine neoplasia 2A in Denmark: A nationwide study Rasmussen, U., Gaustadnes, M., Ørntoft, T. F., Rossing, M., Nielsen, F. C., Albrechtsen, A., Brixen, K., Godballe, C. & Frederiksen, A. L., 2017, I : Thyroid. 27, 12, s Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Madsen, M., Stochholm, K., Poulsen, P. L., Krogh Rasmussen, Å., Feldt-Rasmussen, U., Schytte, S., Pedersen, H. B., Hahn, C. H., Bentzen, J., Gaustadnes, M., Ørntoft, T. F., Hansen, T. V. O., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., 2017, I : Endocrine - Related Cancer. 24, 7, s. L39-L42 Publikation: Bidrag til tidsskrift Letter Forskning peer review 17. Mitochondrial point mutation m.3243a > G associates with lower bone mineral density, thinner cortices and reduced bone strength: A case-control study Langdahl, J. H., Frederiksen, A. L., Hansen, S. J., Andersen, P. H., Yderstraede, K. B., Dunø, M., Vissing, J. & Frost, M., 2017, I : Journal of Bone and Mineral Research. 32, 10, s Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia Geilswijk, M., Andersen, L. L. T., Frost, M., Brusgaard, K., Beck-Nielsen, H., Frederiksen, A. L. & Jensen, D. M., 2017, I : Endocrinology, Diabetes & Metabolism Case Reports. 2017, 5 s., Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma Hansen, M. S. S., Jacobsen, N., Frederiksen, A. L., Lund, L., Andersen, M. S. & Glintborg, D., 2017, I : Research and Reports in Urology. 9, s Asymptomatic parental mosaicism for osteogenesis imperfect associated with a new splice site mutation in COL1A2 Frederiksen, A. L., Dunø, M., Johnsen, I. B. G., Frost, M. & Krøigård, A. B., 31 aug. 2016, I : Clinical Case Reports. 4, 10, s Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) Krøigård, A. B., Frost, M., Larsen, M. J., Ousager, L. B. & Frederiksen, A. L., 2016, I : Bone. 92, s

3 22. Klinisk genetisk udredning: hvem, hvorfor, hvornår og hvordan? Frederiksen, A. L., 2016, I : Maanedsskrift for Almen Praksis. 2016, 02, s Publikation: Bidrag til tidsskrift Tidsskriftartikel Formidling 23. Neonatal High Bone Mass With First Mutation Of The NF-κB Complex: Heterozygous De Novo Missense (p.asp512ser) RELA (Rela/p65) Frederiksen, A. L., Larsen, M. J., Brusgaard, K., Norvack, D. V., Knudsen, P. J. T., Schrøder, H. D., Qiu, W., Eckhardt, C., McAlister, W. H., Kassem, M., Mumm, S., Nielsen, M. F. M. & Whyte, M. P., 2016, I : Journal of Bone and Mineral Research. 31, 1, s Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA Guo, S., Esserlind, A. L., Andersson, Z., Frederiksen, A. L., Olesen, J., Vissing, J. & Ashina, M., 2016, I : European Journal of Neurology. 23, 1, s Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation Füchtbauer, L., Brusgaard, K., Ledaal, P., Nielsen, M. F. M. & Frederiksen, A. L., 2015, I : Clinical Case Reports. 3, 12, s Blue cone monochromatism in a female due to skewed X-inactivation Frederiksen, A. L., Duno, M. & Welinder, L. G., 2014, I : Ophthalmic Genetics. 34, 1-2, s Det komplekse kliniske billede ved arvelige mitokondriesygdomme Frederiksen, A. L., Nielsen, M. F. M., Yderstræde, K. B. & Vissing, J., 2014, I : Ugeskrift for Laeger. 2014, 19, s Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation Frederiksen, A. L., Hansen, S., Brixen, K. & Nielsen, M. F. M., 2014, I : Bone. 69, s A novel mitochondrial mutation m.8989g>c associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome Duno, M., Wibrand, F., Baggesen, K., Rosenberg, T., Kjaer, N. & Frederiksen, A. L., 25 feb. 2013, I : Gene. 515, 2, s s. 30. Arvelige sygdomme og genetisk udredning Frederiksen, A. L., 2013, I : Laegemagasinet. 5, s Publikation: Bidrag til tidsskrift Tidsskriftartikel Formidling 31. Clinical manifest x-linked recessive adrenoleukodystrophy in a female Jack, G. H. S., Malm-Willadsen, K., Frederiksen, A., Glintborg, D. & Andersen, M., 2013, I : Case Reports in Neurological Medicine. 2013, 3 s., Limited diagnostic value of enzyme analysis in patients with mitochondrial trna mutations Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M. & Vissing, J., maj 2010, I : Muscle & Nerve. 41, 5, s s. 33. High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects Frederiksen, A. L., Jeppesen, T. D., Vissing, J., Schwartz, M., Kyvik, K. O., Schmitz, O., Poulsen, P. L. & Andersen, P. H., 1 aug. 2009, I : Journal of Clinical Endocrinology and Metabolism. 94, 8, s s. 34. Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation Jeppesen, T. D., Schwartz, M., Frederiksen, A. L., Wibrand, F., Olsen, D. B. & Vissing, J., dec. 2006, I : Archives of Neurology. 63, 12, s s. 35. Tissue specific distribution of the 3243A->G mtdna mutation Frederiksen, A. L., Andersen, P. H., Kyvik, K. O., Jeppesen, T. D., Vissing, J. & Schwartz, M., aug. 2006, I : Journal of Medical Genetics. 43, 8, s s. 36. Mitokondriel diabetes med fokus på maternally inherited diabetes and deafness Frederiksen, A. L., Kyvik, K. O. & Andersen, P. H., 9 aug. 2004, I : Ugeskrift for Laeger. 166, 33, s s. Publikation: Bidrag til tidsskrift Review Forskning peer review

4 Scientific presentations 1. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>multiple Endocrine Neoplasia, type 4 a novel CDKN1B mutation with high penetrance of primary hyperparathyroidism</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">1 okt. 2018</span></td></tr><tr><td><ul class="relations persons"><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li><li>Maria Rossing (Underviser)</li><li><span class="person">pernille Hermann</span> (Underviser)</li><li>Charlotte Albjerg Ejersted (Underviser)</li><li><span class="person">morten Frost Munk Nielsen</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li><li><span class="organisation">medicinsk Endokrinologi</span></li><li><span class="organisation">steno Diabetes Center Odense</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">poster Presentation</div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>american Society of Bone and Mineral Research</span></h2></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> 2. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>bone Morphology in IKBKG (NEMO) Mutation Positive Women. A case-control study</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">9 sep. 2017</span></td></tr><tr><td><ul class="relations persons"><li><span class="person">morten Frost Munk Nielsen</span> (Underviser)</li><li>Michaela Tencerova (Underviser)</li><li>Charlotte Albjerg Ejersted (Underviser)</li><li>Dea Svaneby (Underviser)</li><li><span class="person">christina Møller Andreasen</span> (Underviser)</li><li><span class="person">thomas Levin Andersen</span> (Underviser)</li><li><span class="person">moustapha Kassem</span> (Underviser)</li><li>William H McAlister (Underviser)</li><li>D. Novack (Underviser)</li><li>Michael P Whyte (Underviser)</li><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">steno Diabetes Center Odense</span></li><li><span class="organisation">medicinsk Endokrinologi</span></li><li><span class="organisation">kmeb</span></li><li><span class="organisation">ortopædkirurgi</span></li><li><span class="organisation">irs, Sygehus Lillebælt, Klinisk Cellebiologisk Afdeling</span></li><li><span class="organisation">irs-center Lillebælt</span></li><li><span class="organisation">human Genetik</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">poster Presentation</div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>american Society of Bone and Mineral Research</span></h2></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> 3. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>systematic genetic screening in a prospective group of Danish patients with pheochromocytoma</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">6 okt. 2016</span></td></tr><tr><td><ul class="relations persons"><li>morten Steen Svarer Hansen (Underviser)</li><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li><li><span class="person">marianne Andersen</span> (Underviser)</li><li><span class="person">dorte Glintborg</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li><li><span class="organisation">medicinsk Endokrinologi</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">oral Presentation</div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>american Urological Association</span></h2></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> 4. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>distribution of RET mutations in MEN2 in Denmark : a nation-wide study</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">30 sep. 2016</span></td></tr><tr><td><ul class="relations persons"><li>jes Sloth Mathiesen (Underviser)</li><li>Peter Vestergaard (Underviser)</li><li>Kirstine Stochholm (Underviser)</li><li>Mette Gaustadnes (Underviser)</li><li>Torben Falck Ørntoft (Underviser)</li><li>Corinne Faivre-Finn (Underviser)</li><li>Kim Brixen (Underviser)</li><li><span class="person">christian Godballe</span> (Underviser)</li><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li><li><span class="organisation">oto-rhino-laryngologi</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">poster Presentation</div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>worldmen Congress</span></h2><div class="address"><p>utrecht, Holland</p></div></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div>

5 5. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>mitochondrial DNA Point Mutation is Associated with Lower Bone Mineral Density and Altered Bone Structure in a Matched Case-Control Study</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">26 apr. 2015</span></td></tr><tr><td><ul class="relations persons"><li><span class="person">jakob Høgild Langdahl</span> (Underviser)</li><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li><li><span class="person">stinus Hansen</span> (Underviser)</li><li><span class="person">per Heden Andersen</span> (Underviser)</li><li><span class="person">knud Bonnet Yderstræde</span> (Underviser)</li><li>Morten Dunø (Underviser)</li><li>John Vissing (Underviser)</li><li><span class="person">morten Frost Munk Nielsen</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li><li><span class="organisation">medicinsk Endokrinologi</span></li><li><span class="organisation">irs-center Sydvestjylland</span></li><li><span class="organisation">irs, Sydvestjysk Sygehus, Endokrinologi</span></li><li><span class="organisation">steno Diabetes Center Odense</span></li><li><span class="organisation">cimt- Centre for Innovative Medical Technology</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">oral Presentation </div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>ects, European Calcified Tissue Society</span></h2></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> 6. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>neonatal high none mass with heterozygous de novo missense mutation i RELA/(RelA/p65)</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">26 apr. 2015</span></td></tr><tr><td><ul class="relations persons"><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li><li><span class="person">martin Jakob Larsen</span> (Underviser)</li><li><span class="person">klaus Brusgaard</span> (Underviser)</li><li>D. Novack (Underviser)</li><li><span class="person">peter Juel Thiis Knudsen</span> (Underviser)</li><li><span class="person">henrik Daa Schrøder</span> (Underviser)</li><li>Christina Eckhardt (Underviser)</li><li>William H McAlister (Underviser)</li><li><span class="person">moustapha Kassem</span> (Underviser)</li><li><span class="person">morten Frost Munk Nielsen</span> (Underviser)</li><li>Michael P Whyte (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li><li><span class="organisation">sdu escience Center</span></li><li><span class="organisation">pædiatri</span></li><li><span class="organisation">retsmedicinsk Institut</span></li><li><span class="organisation">bridge, Brain Research - Inter-Disciplinary Guided Excellence</span></li><li><span class="organisation">patologi</span></li><li><span class="organisation">kmeb</span></li><li><span class="organisation">medicinsk Endokrinologi</span></li><li><span class="organisation">steno Diabetes Center Odense</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">oral Presentation</div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>ects, European Calcified Tissue Society</span></h2></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> 7. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>leri Weill Dyschondrosteosis. The bone microarchitecture in subjects with mutation in the SHOX gene</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">25 jun. 2012</span></td></tr><tr><td><ul class="relations persons"><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li><li><span class="person">stinus Hansen</span> (Underviser)</li><li>Kim Brixen (Underviser)</li><li><span class="person">morten Frost Munk Nielsen</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li><li><span class="organisation">medicinsk Endokrinologi</span></li><li><span class="organisation">sydvestjysk Sygehus</span></li><li><span class="organisation">steno Diabetes Center Odense</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">posterpresentation</div><tr rendering_ueoexternalorganisation_short"><h2 class="title"><span>european Society of Human Genetics (ESHG) Annual Meeting</span></h2><div class="address"><p>tyskland</p></div></div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> 8. <div class="rendering rendering_activity rendering_activity_long rendering_talk rendering_long rendering_talk_long"><h2 class="title"><span>the Epidemiology of Maternally Inherited Diabetes and Deafness (MIDD).</span></h2><table class="properties"><tbody><tr class="periode"><th>periode</th><td><span class="date">aug. 2003</span></td></tr><tr><td><ul class="relations persons"><li><span class="person">anja Lisbeth Frederiksen</span> (Underviser)</li></ul></td></tr><ul class="relations organisations"><li><span class="organisation">human Genetik</span></li></ul><h3 class="subheader">beskrivelse</h3><div class="textblock">discussed Poster Presentation</div><tr class="properties"><tbody><h3 class="subheader">related begivenhed</h3><tr><td><div class="rendering rendering_event rendering_short rendering_event_short"><h2 class="title"><span>international Diabetes Congress (IDF) </span></h2><p><span class="date">29/08/2003</span> </p>paris, Frankrig</div></td></tr></tbody></table><table class="properties"><tbody></tbody></table></div> Presse/medie Diagnostik og behandling af hypofosfatasi

6 Anja Lisbeth Frederiksen 13/05/ Mediebidrag Et bemærkelsesværdigt fund Anja Lisbeth Frederiksen 30/09/ element af Mediedækning