A novel nonsense variant in MED12 associated with malformations in a female fetus

Autor: Soren Lejsted Faergeman, Naja Becher, Lotte Andreasen, Marianne Christiansen, Lise Frost, Ida Vogel

Publikováno v: Clinical Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)

Abstract Pathogenic variants in the MED12 gene located on the X‐chromosome have primarily been reported in males with Lujan‐Fryns syndrome, Ohdo syndrome and the Opits‐Kaveggia syndrome. However, earlier reports of female patients and female mi

Externí odkaz: https://doaj.org/article/c237c63c9dd44d39b4253d4391edc328

Suspicion of child maltreatment: Knowledge and experiences with mandatory reports to social services among general practitioners in Denmark in 2019–20

Autor: Ioanna Milidou, Camilla Hoffmann Merrild, Lise Frost, Annie Vesterby Charles, Hans Christian Kjeldsen, Charlotte Søndergaard

Publikováno v: Milidou, I, Merrild, C H, Frost, L, Charles, A V, Kjeldsen, H C & Søndergaard, C 2023, ' Suspicion of child maltreatment : Knowledge and experiences with mandatory reports to social services among general practitioners in Denmark in 2019-20 ', Child Abuse & Neglect, vol. 139, 106132 . https://doi.org/10.1016/j.chiabu.2023.106132
Milidou, I, Merrild, C H, Frost, L, Charles, A V, Kjeldsen, H C & Søndergaard, C 2023, ' Suspicion of child maltreatment : Knowledge and experiences with mandatory reports to social services among general practitioners in Denmark in 2019–20 ', Child Abuse & Neglect, vol. 139, 106132 . https://doi.org/10.1016/j.chiabu.2023.106132

Background: Child maltreatment has many consequences through the lifespan. The general practitioners (GPs) are in longitudinal contact with the family and can play an important role in identifying children in danger and reporting to the social servic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abadf8c2c53f0b5c0d79e13a6c5cf37
https://doi.org/10.1016/j.chiabu.2023.106132

Bronzealderens hjortetaksøkser – datering og deponeringsforhold

Autor: Lise Frost, Gry Hoffmann Barfod, Marie Kanstrup

Publikováno v: Aarhus University
Frost, L, Barfod, G & Kanstrup, M 2021, ' Bronzealderens hjortetaksøkser-datering og deponeringsforhold ', Kuml: Årbog for Jysk Arkæologisk Selskab, bind 2019, nr. 68 . < https://tidsskrift.dk/kuml/article/view/126028 >

Breonze Age antler axes – dating and depositional context Antler axes are typically associated with the Mesolithic, but this article presents a group of antler axes from the Danish Bronze Age, when this artefact type surprisingly turns up again aft

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbc547272620736b390db7af7d403f65
https://doi.org/10.7146/kuml.v68i68.126028

Lethal abusive head trauma in infancy in Denmark from 2000 to 2011

Autor: Anette Flugt, Lise Frost, Charlotte Søndergaard, Ioanna Milidou

Publikováno v: Flugt, A, Frost, L, Søndergaard, C & Milidou, I 2021, ' Lethal abusive head trauma in infancy in Denmark from 2000 to 2011 ', Danish Medical Journal, vol. 68, no. 4, A08200604 . < https://ugeskriftet.dk/dmj/lethal-abusive-head-trauma-infancy-denmark-2000-2011 >
Aarhus University

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d236d789b14054f3b29b523d2dd54c32
https://pure.au.dk/portal/da/publications/lethal-abusive-head-trauma-in-infancy-in-denmark-from-2000-to-2011(02616127-bb87-423d-9589-e011bfe6af64).html

Postmortem protein stability investigations of the human hepatic drug-metabolizing cytochrome P450 enzymes CYP1A2 and CYP3A4 using mass spectrometry

Autor: Lise Frost, Johan Palmfeldt, Jakob Hansen, Anette Mariane Daa Funder, Jakob Ross Jornil, Jørgen B. Hasselstrøm, Kata Wolff Pedersen

Publikováno v: Hansen, J, Palmfeldt, J, Pedersen, K W, Funder, A D, Frost, L, Hasselstrøm, J B & Jornil, J R 2019, ' Postmortem protein stability investigations of the human hepatic drug-metabolizing cytochrome P450 enzymes CYP1A2 and CYP3A4 using mass spectrometry ', Journal of Proteomics, vol. 194, pp. 125-131 . https://doi.org/10.1016/j.jprot.2018.11.024

Variability in expression and activity of hepatic drug-metabolizing cytochrome P450 (CYP) enzymes can play a causal role in fatal intoxication cases and is thus of forensic interest. We investigated the feasibility of LC-MS/MS based quantification an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caa703bc5568a101492207b13210f545
https://pure.au.dk/portal/da/publications/postmortem-protein-stability-investigations-of-the-human-hepatic-drugmetabolizing-cytochrome-p450-enzymes-cyp1a2-and-cyp3a4-using-mass-spectrometry(2893c742-8387-43f5-a0ce-00052cb32438).html