32068234 30227764 33411694 33856035 30352049 29468661 31586495 29514882 30826071 31130875 31235867 32042494 33838111 34526125 32976638 35264729 29399948 33951249 33993859 30819260 30937395 35275183 34800434 35573374 32881030 31503547 34369389 3184972 - Search Results

Year	Number of Results
2016	1
2017	14
2018	27
2019	34
2020	45
2021	42
2022	22

1

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.

Elbracht M, Mackay D, Begemann M, Kagan KO, Eggermann T. Elbracht M, et al. Hum Reprod Update. 2020 Feb 28;26(2):197-213. doi: 10.1093/humupd/dmz045. Hum Reprod Update. 2020. PMID: 32068234 Review.

2

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K. Beygo J, et al. Epigenetics. 2018;13(8):822-828. doi: 10.1080/15592294.2018.1514233. Epub 2018 Sep 19. Epigenetics. 2018. PMID: 30227764 Free PMC article.

3

CRISPR/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice.

Schmid RS, Deng X, Panikker P, Msackyi M, Breton C, Wilson JM. Schmid RS, et al. J Clin Invest. 2021 Mar 1;131(5):e142574. doi: 10.1172/JCI142574. J Clin Invest. 2021. PMID: 33411694 Free PMC article.

4

Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.

Adhikari A, Copping NA, Beegle J, Cameron DL, Deng P, O'Geen H, Segal DJ, Fink KD, Silverman JL, Anderson JS. Adhikari A, et al. Hum Mol Genet. 2021 Jun 9;30(12):1067-1083. doi: 10.1093/hmg/ddab104. Hum Mol Genet. 2021. PMID: 33856035 Free PMC article.

5

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice.

Gu B, Carstens KE, Judson MC, Dalton KA, Rougié M, Clark EP, Dudek SM, Philpot BD. Gu B, et al. J Clin Invest. 2019 Jan 2;129(1):163-168. doi: 10.1172/JCI120816. Epub 2018 Nov 19. J Clin Invest. 2019. PMID: 30352049 Free PMC article.

6

Molecular and clinical studies in 8 patients with Temple syndrome.

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J. Gillessen-Kaesbach G, et al. Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29468661

7

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.

Watkins A, Bissell S, Moss J, Oliver C, Clayton-Smith J, Haye L, Heald M, Welham A. Watkins A, et al. J Neurodev Disord. 2019 Oct 5;11(1):24. doi: 10.1186/s11689-019-9282-0. J Neurodev Disord. 2019. PMID: 31586495 Free PMC article.

8

Genomic imprinting, growth and maternal-fetal interactions.

Cassidy FC, Charalambous M. Cassidy FC, et al. J Exp Biol. 2018 Mar 7;221(Pt Suppl 1):jeb164517. doi: 10.1242/jeb.164517. J Exp Biol. 2018. PMID: 29514882 Review.

9

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.

Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF. Frohlich J, et al. Biol Psychiatry. 2019 May 1;85(9):752-759. doi: 10.1016/j.biopsych.2019.01.008. Epub 2019 Jan 19. Biol Psychiatry. 2019. PMID: 30826071 Free PMC article.

10

Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination.

Elu N, Osinalde N, Beaskoetxea J, Ramirez J, Lectez B, Aloria K, Rodriguez JA, Arizmendi JM, Mayor U. Elu N, et al. Front Physiol. 2019 May 3;10:534. doi: 10.3389/fphys.2019.00534. eCollection 2019. Front Physiol. 2019. PMID: 31130875 Free PMC article.

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