Borgwardt L - Search Results

1

Whole genome sequencing in clinical practice.

Bagger FO, Borgwardt L, Jespersen AS, Hansen AR, Bertelsen B, Kodama M, Nielsen FC. Bagger FO, et al. Among authors: borgwardt l. BMC Med Genomics. 2024 Jan 29;17(1):39. doi: 10.1186/s12920-024-01795-w. BMC Med Genomics. 2024. PMID: 38287327 Free PMC article. Review.

2

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.

Hansen AR, Borgwardt L, Rasmussen ÅK, Godballe C, Poulsen MM, Vieira FG, Mathiesen JS, Rossing M. Hansen AR, et al. Among authors: borgwardt l. Front Endocrinol (Lausanne). 2021 Dec 1;12:764512. doi: 10.3389/fendo.2021.764512. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34925234 Free PMC article.

3

Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.

Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, Marvig RL, Katzenstein TL, Masmas TN, Lundgren J, Murray DD, Helleberg M, Borgwardt L. Mørup SB, et al. Among authors: borgwardt l. Front Immunol. 2022 Jun 30;13:906328. doi: 10.3389/fimmu.2022.906328. eCollection 2022. Front Immunol. 2022. PMID: 35874679 Free PMC article. Review.

4

Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.

Drabe CH, Marvig RL, Borgwardt L, Lundgren JD, Maquart HVH, Katzenstein TL, Helleberg M. Drabe CH, et al. Among authors: borgwardt l. Front Immunol. 2020 Sep 11;11:567856. doi: 10.3389/fimmu.2020.567856. eCollection 2020. Front Immunol. 2020. PMID: 33013931 Free PMC article.

5

Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature.

Rashu EB, Junker AE, Danielsen KV, Dahl E, Hamberg O, Borgwardt L, Christensen VB, Wewer Albrechtsen NJ, Gluud LL. Rashu EB, et al. Among authors: borgwardt l. World J Clin Cases. 2020 May 6;8(9):1642-1650. doi: 10.12998/wjcc.v8.i9.1642. World J Clin Cases. 2020. PMID: 32432142 Free PMC article.

6

Rare genetic variants suggest dysregulation of signaling pathways in low- and high-risk patients developing severe ovarian hyperstimulation syndrome.

Borgwardt L, Olsen KW, Rossing M, Helweg-Larsen RB, Toftager M, Pinborg A, Bogstad J, Løssl K, Zedeler A, Grøndahl ML. Borgwardt L, et al. J Assist Reprod Genet. 2020 Nov;37(11):2883-2892. doi: 10.1007/s10815-020-01941-0. Epub 2020 Sep 18. J Assist Reprod Genet. 2020. PMID: 32945993 Free PMC article.

7

Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report.

Marstrand SD, Tofteng CL, Jarløv A, Borgwardt L, Schwarz P. Marstrand SD, et al. Among authors: borgwardt l. J Med Case Rep. 2021 Sep 24;15(1):471. doi: 10.1186/s13256-021-03051-6. J Med Case Rep. 2021. PMID: 34556169 Free PMC article.

8

Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II.

Silajdzija E, Bliddal S, Borgwardt L, Rossing M, Jarløv A, Nielsen CH, Feldt-Rasmussen U. Silajdzija E, et al. Among authors: borgwardt l. Hormones (Athens). 2022 Jun;21(2):317-322. doi: 10.1007/s42000-021-00344-9. Epub 2022 Feb 19. Hormones (Athens). 2022. PMID: 35182386 Free PMC article. Review.

9

Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Main AM, Rossing M, Borgwardt L, Grønkær Toft B, Rasmussen ÅK, Feldt-Rasmussen U. Main AM, et al. Among authors: borgwardt l. Endocr Connect. 2020 Aug;9(8):793-803. doi: 10.1530/EC-20-0279. Endocr Connect. 2020. PMID: 32688340 Free PMC article.

10

A novel DOCK2 variant in siblings with severe combined immunodeficiency.

Bruusgaard-Mouritsen MA, Masmas T, Borgwardt L, Nazaryan-Petersen L, Heilmann C, Madsen HO, Vibeke Marquart H. Bruusgaard-Mouritsen MA, et al. Among authors: borgwardt l. Scand J Immunol. 2023 Mar;97(3):e13243. doi: 10.1111/sji.13243. Epub 2023 Jan 12. Scand J Immunol. 2023. PMID: 36541113 Free article. No abstract available.

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