Research output per year
Research output per year
- 39 results
Search results
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2024
PDP type brain tumor in association with multiple endocrine neoplasia type 1
Einarsson, H. B., Frederiksen, A. L., Pedersen, I. S., Ettrup, M. S., Wirenfeldt, M., Boldt, H., Nguyen, N., Andersen, M. S., Bjarkam, C. R. & Poulsen, F. R., 30 Mar 2024, In: Heliyon. 10, 6, e27418.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile8 Downloads (Pure) -
2023
Chung-Jansen Syndrome – a new overweight and developmental delay syndrome caused by haploinsufficiency of PHIP – a case report
Sørensen, A., Bjerregaard, L. L. & Frederiksen, A. L., Jun 2023.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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Metabolic Reprogramming of Bone-Marrow Mesenchymal Stem Cells Leads to Impaired Bone Formation in Patients with Inherited Mitochondrial Dysfunction
Fernandez-Guerra, P., Sayed, A., Kjær, P., Nielsen, T. K., Ditzel, N., Terp, S. K., Ejersted, C., Thomsen, J. S., Vissing, J., Andersen, P. H., Søe, K., Andersen, T. L., Kassem, M., Frost, M. & Frederiksen, A. L., 8 Feb 2023, In: Journal of Bone and Mineral Research. 38, Suppl. 1, p. 60-61 2 p., FRI-231.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Andersen, C. B., Lautrup, C. K., Karstensen, H. G., Pedersen, I. S., Sunde, L., Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D., Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, S. G., Hammer, T. B. & Diness, B. R., Dec 2023, In: European Journal of Medical Genetics. 66, 12, 104872.Research output: Contribution to journal › Journal article › Communication
1 Citation (Scopus) -
Prolonged gastrointestinal transit times in mitochondrial disease – a case control study
Nielsen, S. R., Wegeberg, A-M. L., Liao, D., Drewes, A. M., Pedersen, I. S., Frederiksen, A. L. & Brock, C., Jun 2023.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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2022
Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study
Hepp, N., Frederiksen, A. L., Duno, M., Jørgensen, N. R. & Jensen, J-E. B., Dec 2022, In: Osteoporosis International. 33, 12, p. 2595-2605 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
5 Citations (Scopus) -
Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease
Nielsen, S. R., Hansen, S. G., Bistrup, C., Brusgaard, K. & Frederiksen, A. L., Dec 2022, In: Calcified Tissue International. 111, 6, p. 641-645 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile15 Downloads (Pure) -
Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation
Hepp, N., Folkestad, L., Møllebæk, S., Frederiksen, A. L., Duno, M., Jørgensen, N. R., Hermann, A. P. & Jensen, J-E. B., Jul 2022, In: Bone. 160, 116420.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile4 Citations (Scopus)63 Downloads (Pure) -
Familial Multiple Lipomatosis - analyses of genetic etiology by whole genome sequencing and delineation of the clinical phenotype
Bjerrelund, J., Larsen, M. J., Schrøder, H. D., Frost, M., Kassem, M., Ousager, L. B. & Frederiksen, A. L., 7 Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 205 1 p.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child
Andersen, S. L., Frederiksen, A. L., Rasmussen, A. B., Madsen, M. & Rønholt Christensen, A-M., 9 May 2022, In: Journal of Pediatric Endocrinology and Metabolism. 35, 5, p. 691-694 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Skift fra 2. til 3. generationsmetode til bestemmelse af PTH blev diagnostisk vejledende for fastlæggelse af genetisk årsag til primær hypoparathyroidisme
Andersen, S. L., Frederiksen, A. L., Rasmussen, A. B., Madsen, M. & Rønholt Christensen, A-M., 2022.Research output: Contribution to conference without publisher/journal › Conference abstract for conference › Research › peer-review
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Telomersygdomme
Translated title of the contribution :Telomere biology disorders Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile10 Downloads (Pure) -
2021
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark
Hepp, N., Frederiksen, A. L., Duno, M., Præst Holm, J., Rye Jørgensen, N. & Beck Jensen, J-E., Dec 2021, In: Bone Reports. 15, 7 p., 101101.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile5 Citations (Scopus)49 Downloads (Pure) -
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Benner, A., Alhaidan, Y., Lines, M. A., Brusgaard, K., De Leon, D. D., Sparkes, R., Frederiksen, A. L. & Christesen, H. T., Oct 2021, In: American Journal of Medical Genetics, Part A. 185, 10, p. 2959-2975 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile2 Citations (Scopus)55 Downloads (Pure) -
2020
Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants
Frost, M., Rahbek, E. T., Ejersted, C., Høilund-Carlsen, P. F., Bygum, A., Thomsen, J. S., Andreasen, C. M., Andersen, T. L. & Frederiksen, A. L., Jun 2020, In: Bone. 135, 115313.Research output: Contribution to journal › Journal article › Research › peer-review
6 Citations (Scopus) -
Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients
Mathiesen, J. S., Nielsen, S. G., Rasmussen, Å. K., Kiss, K., Wadt, K., Hermann, A. P., Nielsen, M. F., Larsen, S. R., Brusgaard, K., Frederiksen, A. L., Godballe, C. & Rossing, M., 28 Apr 2020, In: Frontiers in Endocrinology. 11, 7 p., 251.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile6 Citations (Scopus)37 Downloads (Pure) -
2019
Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study
Frost, M., Tencerova, M., Andreasen, C. M., Andersen, T. L., Ejersted, C., Svaneby, D., Qui, W., Kassem, M., Zarei, A., McAlister, W. H., Veis, D. J., Whyte, M. P. & Frederiksen, A. L., Apr 2019, In: Bone. 121, p. 243-254 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
4 Citations (Scopus) -
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., 11 Apr 2019, In: Journal of Clinical Endocrinology and Metabolism. 104, 9, p. 3637-3646 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile71 Citations (Scopus)19 Downloads (Pure) -
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., Jul 2019, In: Endocrine Connections. 8, 7, p. 829-837 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile4 Citations (Scopus)17 Downloads (Pure) -
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia
Hepp, N., Frederiksen, A. L., Dunø, M., Jørgensen, N. R., Langdahl, B., Vedtofte, P., Hove, H. B., Hindsø, K. & Jensen, J. E. B., 1 Dec 2019, In: Calcified Tissue International. 105, 6, p. 681-686 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
6 Citations (Scopus) -
2018
Diagnostik og behandling af hypofosfatasi
Translated title of the contribution :Diagnostics and treatment of hypophosphatasia Research output: Contribution to journal › Review article › peer-review
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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., Yderstræde, K. B., Vissing, J., Dunø, M., Thomassen, M. & Frederiksen, A. L., Apr 2018, In: Clinical Genetics. 93, 4, p. 925-928 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
10 Citations (Scopus) -
2017
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., Brusgaard, K. & Juhl, C. B., 1 Feb 2017, In: European Journal of Medical Genetics. 60, 2, p. 105-109 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
16 Citations (Scopus) -
Distribution of RET mutations in multiple endocrine neoplasia 2 in Denmark 1994-2014: a nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Gaustadnes, M., Ørntoft, T. F., Hansen, T. V. O., Nielsen, F. C., Brixen, K., Godballe, C. & Frederiksen, A. L., 2017, In: Thyroid. 27, 2, p. 215-223 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile26 Citations (Scopus)150 Downloads (Pure) -
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., Yderstræde, K. B., Dunø, M., Vissing, J. & Frost, M., Oct 2017, In: Journal of Bone and Mineral Research. 32, 10, p. 2041-2048 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile12 Citations (Scopus)16 Downloads (Pure) -
Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A
Mathiesen, J. S., Van Overeem Hansen, T., Rasmussen, Å. K., Hjortshøj, T. D., Kiss, K., Larsen, S. R., Krogh, L. N., Frederiksen, A. L., Hermann, A. P. & Godballe, C., Aug 2017, In: Thyroid. 27, 8, p. 1103-1104 2 p.Research output: Contribution to journal › Letter › peer-review
12 Citations (Scopus) -
Reply to: Reduced Bone Mineral Density in m.3243A>G Carriers May Be Multifactorial
Høgild Langdahl, J., Frederiksen, A. L., Andersen, P. H., Yderstræde, K. B. & Frost, M., Nov 2017, In: Journal of Bone and Mineral Research. 32, 11, p. 2317-2318 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
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2016
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., 1 Nov 2016, In: Bone. 92, p. 145-149 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open Access7 Citations (Scopus) -
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., Novack, D. V., Knudsen, P. J. T., Schrøder, H. D., Qiu, W., Eckhardt, C., McAlister, W. H., Kassem, M., Mumm, S., Frost, M. & Whyte, M. P., 1 Jan 2016, In: Journal of Bone and Mineral Research. 31, 1, p. 163-172 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
20 Citations (Scopus) -
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., 1 Jan 2016, In: European Journal of Neurology. 23, 1, p. 175-181 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
31 Citations (Scopus) -
2014
Det komplekse kliniske billede ved arvelige mitokondriesygdomme
Frederiksen, A. L., Nielsen, M. F., Yderstræde, K. & Vissing, J., 2014, In: Ugeskrift for laeger. 176, 19, p. 1779-1783 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation
Frederiksen, A. L., Hansen, S., Brixen, K. & Frost, M., 1 Dec 2014, In: Bone. 69, p. 23-29 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
16 Citations (Scopus) -
2013
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome
Duno, M., Wibrand, F., Baggesen, K., Rosenberg, N. T., Olsen, N. K. & Frederiksen, A. L., 25 Feb 2013, In: Gene. 515, 2, p. 372-5 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile35 Citations (Scopus)904 Downloads (Pure) -
Blue cone monochromatism in a female due to skewed X-inactivation
Frederiksen, A. L., Duno, M. & Welinder, L. G., 2013, In: Ophthalmic Genetics. 34, 1-2, p. 101-4 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
5 Citations (Scopus) -
2010
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., May 2010, In: Muscle and Nerve. 41, 5, p. 607-613 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
20 Citations (Scopus) -
2009
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., Aug 2009, In: Journal of Clinical Endocrinology and Metabolism. 94, 8, p. 2872-2879 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
19 Citations (Scopus) -
2006
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, In: Archives of Neurology. 63, 12, p. 1701-1706 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
73 Citations (Scopus) -
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, In: Journal of Medical Genetics. 43, 8, p. 671-677 7 p.Research output: Contribution to journal › Letter › peer-review
79 Citations (Scopus) -
2004
Mitokondriel diabetes med fokus på maternally inherited diabetes and deafness
Translated title of the contribution :Mitochondrial diabetes, with a focus on maternally inherited diabetes and deafness (MIDD) Research output: Contribution to journal › Review article › peer-review
1 Citation (Scopus)