Gregersen PA - Search Results

1

Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.

Leegaard A, Gregersen PA, Nielsen TØ, Bjerre JV, Handrup MM. Leegaard A, et al. Among authors: gregersen pa. Eur J Med Genet. 2022 Nov;65(11):104630. doi: 10.1016/j.ejmg.2022.104630. Epub 2022 Sep 30. Eur J Med Genet. 2022. PMID: 36184070 Free article.

2

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: gregersen pa. 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

3

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

Graversen L, Handrup MM, Irving M, Hove H, Diness BR, Risom L, Svaneby D, Aagaard MM, Vogel I, Gjørup H, Davidsen M, Hellfritzsch MB, Lauridsen E, Gregersen PA. Graversen L, et al. Among authors: gregersen pa. Eur J Med Genet. 2020 Feb;63(2):103650. doi: 10.1016/j.ejmg.2019.04.007. Epub 2019 Apr 11. Eur J Med Genet. 2020. PMID: 30980954

4

Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review.

Ejerskov C, Raundahl M, Gregersen PA, Handrup MM. Ejerskov C, et al. Among authors: gregersen pa. Orphanet J Rare Dis. 2021 Apr 14;16(1):180. doi: 10.1186/s13023-021-01796-3. Orphanet J Rare Dis. 2021. PMID: 33853649 Free PMC article. Review.

5

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: gregersen pa. 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

6

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.

Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Among authors: gregersen pa. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.

7

Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant.

Nielsen TØ, Herlin MK, Linnet KM, Beniczky S, Sommerlund M, Granild-Jensen JB, Gregersen PA. Nielsen TØ, et al. Among authors: gregersen pa. Eur J Med Genet. 2022 Mar;65(3):104444. doi: 10.1016/j.ejmg.2022.104444. Epub 2022 Jan 29. Eur J Med Genet. 2022. PMID: 35093606 Free article.

8

Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis.

Gregersen PA, Funding M, Alsner J, Olsen MH, Overgaard J, Staffieri SE, Lou S, Urbak SF. Gregersen PA, et al. Eur J Med Genet. 2022 Sep;65(9):104569. doi: 10.1016/j.ejmg.2022.104569. Epub 2022 Jul 15. Eur J Med Genet. 2022. PMID: 35843585 Free article.

9

Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.

Markholt S, Andreasen L, Bjerre J, Gregersen PA, Andersen BN. Markholt S, et al. Among authors: gregersen pa. Eur J Med Genet. 2023 Feb;66(2):104695. doi: 10.1016/j.ejmg.2023.104695. Epub 2023 Jan 3. Eur J Med Genet. 2023. PMID: 36608738 Free article.

10

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. Among authors: gregersen pa. 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

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