Works matching AU Frederiksen, Anja Lisbeth

Results: 16

Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study.

Published in:

Osteoporosis International, 2022, v. 33, n. 12, p. 2595, doi. 10.1007/s00198-022-06536-2

By:

Hepp, Nicola;
Frederiksen, Anja Lisbeth;
Duno, Morten;
Jørgensen, Niklas Rye;
Jensen, Jens-Erik Beck

Publication type:

Article

High Prevalence of Impaired Glucose Homeostasis and Myopathy in Asymptomatic and Oligosymptomatic 3243A>G Mitochondrial DNA Mutation-Positive Subjects

Published in:

Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 8, p. 2872, doi. 10.1210/jc.2009-0235

By:

Frederiksen, Anja Lisbeth;
Jeppesen, Tina Dysgaard;
Vissing, John;
Schwartz, Marianne;
Kyvik, Kirsten Ohm;
Schmitz, Ole;
Poulsen, Per Løgstrup;
Andersen, Per Heden

Publication type:

Article

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2.

Published in:

Clinical Case Reports, 2016, v. 4, n. 10, p. 972, doi. 10.1002/ccr3.658

By:

Frederiksen, Anja Lisbeth;
Duno, Morten;
Johnsen, Iben B. G.;
Nielsen, Morten Frost;
Krøigård, Anne Bruun

Publication type:

Article

Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997–2014: A Nationwide Study.

Published in:

Thyroid, 2019, v. 29, n. 3, p. 368, doi. 10.1089/thy.2018.0564

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Schytte, Sten;
Londero, Stefano Christian;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Bentzen, Jens;
Möller, Sören;
Gaustadnes, Mette;
Rossing, Maria;
Nielsen, Finn Cilius;
Brixen, Kim;
Frederiksen, Anja Lisbeth;
Godballe, Christian

Publication type:

Article

Founder Effect of the RET<sup>C611Y</sup> Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

Published in:

Thyroid, 2017, v. 27, n. 12, p. 1505, doi. 10.1089/thy.2017.0404

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Gaustadnes, Mette;
Ørntoft, Torben Falck;
Rossing, Maria;
Nielsen, Finn Cilius;
Albrechtsen, Anders;
Brixen, Kim;
Godballe, Christian;
Frederiksen, Anja Lisbeth

Publication type:

Article

Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A.

Published in:

Thyroid, 2017, v. 27, n. 8, p. 1103, doi. 10.1089/thy.2017.0131

By:

Mathiesen, Jes Sloth;
van Overeem Hansen, Thomas;
Rasmussen, Åse Krogh;
Hjortshøj, Tina Duelund;
Kiss, Katalin;
Larsen, Stine Rosenkilde;
Krogh, Lotte Nylandsted;
Frederiksen, Anja Lisbeth;
Hermann, Anne Pernille;
Godballe, Christian

Publication type:

Article

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Published in:

Thyroid, 2017, v. 27, n. 2, p. 215, doi. 10.1089/thy.2016.0411

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Gaustadnes, Mette;
Ørntoft, Torben Falck;
van Overeem Hansen, Thomas;
Nielsen, Finn Cilius;
Brixen, Kim;
Godballe, Christian;
Frederiksen, Anja Lisbeth

Publication type:

Article

Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997–2013: a nationwide study.

Published in:

Clinical Epidemiology, 2019, v. 11, p. 93, doi. 10.2147/CLEP.S183268

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Schytte, Sten;
Londero, Stefano Christian;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Bentzen, Jens;
Möller, Sören;
Gaustadnes, Mette;
Rossing, Maria;
Nielsen, Finn Cilius;
Brixen, Kim;
Frederiksen, Anja Lisbeth;
Godballe, Christian

Publication type:

Article

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study.

Published in:

Clinical Epidemiology, 2018, v. 10, p. 1479, doi. 10.2147/CLEP.S174606

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Schytte, Sten;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Bentzen, Jens;
Möller, Sören;
Gaustadnes, Mette;
Rossing, Maria;
Nielsen, Finn Cilius;
Brixen, Kim;
Frederiksen, Anja Lisbeth;
Godballe, Christian

Publication type:

Article

Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 691, doi. 10.1515/jpem-2021-0752

By:

Andersen, Stine Linding;
Frederiksen, Anja Lisbeth;
Rasmussen, Astrid Bruun;
Madsen, Mette;
Christensen, Ann-Margrethe Rønholt

Publication type:

Article

Reply to: Reduced Bone Mineral Density in m.3243A>G Carriers May Be Multifactorial.

Published in:

Journal of Bone & Mineral Research, 2017, v. 32, n. 11, p. 2317, doi. 10.1002/jbmr.3280

By:

Høgild Langdahl, Jakob;
Frederiksen, Anja Lisbeth;
Andersen, Per Heden;
Yderstræde, Knud Bonnet;
Frost, Morten

Publication type:

Article

Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study.

Published in:

Journal of Bone & Mineral Research, 2017, v. 32, n. 10, p. 2041, doi. 10.1002/jbmr.3193

By:

Langdahl, Jakob Høgild;
Frederiksen, Anja Lisbeth;
Hansen, Stinus Jørn;
Andersen, Per Heden;
Yderstræde, Knud Bonnet;
Dunø, Morten;
Vissing, John;
Frost, Morten

Publication type:

Article

Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma.

Published in:

Research & Reports in Urology, 2017, v. 9, p. 113, doi. 10.2147/RRU.S134385

By:

Svarer Hansen, Morten Steen;
Jacobsen, Niels;
Frederiksen, Anja Lisbeth;
Lund, Lars;
Andersen, Marianne Skovsager;
Glintborg, Dorte

Publication type:

Article

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.

Published in:

2019

By:

Hepp, Nicola;
Frederiksen, Anja Lisbeth;
Dunø, Morten;
Jørgensen, Niklas Rye;
Langdahl, Bente;
Vedtofte, Poul;
Hove, Hanne B.;
Hindsø, Klaus;
Jensen, Jens-Erik Beck

Publication type:

journal article

Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Published in:

Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00251

By:

Mathiesen, Jes Sloth;
Nielsen, Søren Grønlund;
Rasmussen, Åse Krogh;
Kiss, Katalin;
Wadt, Karin;
Hermann, Anne Pernille;
Nielsen, Morten Frost;
Larsen, Stine Rosenkilde;
Brusgaard, Klaus;
Frederiksen, Anja Lisbeth;
Godballe, Christian;
Rossing, Maria

Publication type:

Article

Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease.

Published in:

2022

By:

Nielsen, Simone Rask;
Hansen, Stinus Gadegaard;
Bistrup, Claus;
Brusgaard, Klaus;
Frederiksen, Anja Lisbeth

Publication type:

Case Study