Lildballe DL - Search Results

1

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

Lildballe DL, Frederiksen AL, Schönewolf-Greulich B, Brasch-Andersen C, Lautrup CK, Karstensen HG, Pedersen IS, Sunde L, Risom L, Rasmussen M, Bertelsen M, Andersen MK, Rendtorff ND, Gregersen PA, Tørring PM, Hammer-Hansen S, Boonen SE, Lindquist SG, Hammer TB, Diness BR. Lildballe DL, et al. Eur J Med Genet. 2023 Dec;66(12):104872. doi: 10.1016/j.ejmg.2023.104872. Epub 2023 Nov 13. Eur J Med Genet. 2023. PMID: 37967791

2

Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.

Nielsen ML, Lildballe DL, Rasmussen M, Bojesen A, Birn H, Sunde L. Nielsen ML, et al. Among authors: lildballe dl. Eur J Med Genet. 2021 Apr;64(4):104183. doi: 10.1016/j.ejmg.2021.104183. Epub 2021 Feb 24. Eur J Med Genet. 2021. PMID: 33639313 Free article.

3

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Faergeman SL, et al. Among authors: lildballe dl. Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229113

4

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.

Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL. Rasmussen M, et al. Among authors: lildballe dl. Am J Med Genet A. 2014 May;164A(5):1318-21. doi: 10.1002/ajmg.a.36454. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24665065

5

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA. Lauritsen KF, et al. Among authors: lildballe dl. Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315471

6

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.

Erbs E, Fenger-Grøn J, Jacobsen CM, Lildballe DL, Rasmussen M. Erbs E, et al. Among authors: lildballe dl. Eur J Med Genet. 2021 Aug;64(8):104244. doi: 10.1016/j.ejmg.2021.104244. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34022415 Review.

7

The Danish HD Registry-a nationwide family registry of HD families in Denmark.

Gilling M, Budtz-Jørgensen E, Boonen SE, Lildballe D, Bojesen A, Hertz JM, Sørensen SA. Gilling M, et al. Clin Genet. 2017 Sep;92(3):338-341. doi: 10.1111/cge.12984. Epub 2017 Mar 28. Clin Genet. 2017. PMID: 28155235

8

[Patients with a kidney disease can benefit from a specific genetic diagnose].

Lildballe DL, Ivarsen P, Rasmussen M. Lildballe DL, et al. Ugeskr Laeger. 2020 Aug 24;182(35):V05200337. Ugeskr Laeger. 2020. PMID: 32829746 Free article. Review. Danish.

9

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.

Faurschou S, Lildballe DL, Maroun LL, Helvind M, Rasmussen M. Faurschou S, et al. Among authors: lildballe dl. Case Rep Genet. 2021 Jun 10;2021:5539855. doi: 10.1155/2021/5539855. eCollection 2021. Case Rep Genet. 2021. PMID: 34221520 Free PMC article.

10

Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.

Granhøj J, Tougaard B, Lildballe DL, Rasmussen M. Granhøj J, et al. Among authors: lildballe dl. Nephron. 2022;146(1):49-57. doi: 10.1159/000518175. Epub 2021 Aug 30. Nephron. 2022. PMID: 34515170

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