日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

D4Z4位点CpG甲基化的个体差异与FSHD1和FSHD2的临床变异性相关。

Lemmers, Richard J L F; Goeman, Jelle J; van der Vliet, Patrick J; van Nieuwenhuizen, Merlijn P; Balog, Judit; Vos-Versteeg, Marianne; Camano, Pilar; Ramos Arroyo, Maria Antonia; Jerico, Ivonne; Rogers, Mark T; Miller, Daniel G; Upadhyaya, Meena; Verschuuren, Jan J G M; Lopez de Munain Arregui, Adolfo; van Engelen, Baziel G M; Padberg, George W; Sacconi, Sabrina; Tawil, Rabi; Tapscott, Stephen J; Bakker, Bert; van der Maarel, Silvère M

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1

FSHD2 基因 SMCHD1 是 FSHD1 患者家族中疾病严重程度的修饰因子

Sacconi, Sabrina; Lemmers, Richard J L F; Balog, Judit; van der Vliet, Patrick J; Lahaut, Pauline; van Nieuwenhuizen, Merlijn P; Straasheijm, Kirsten R; Debipersad, Rashmie D; Vos-Versteeg, Marianne; Salviati, Leonardo; Casarin, Alberto; Pegoraro, Elena; Tawil, Rabi; Bakker, Egbert; Tapscott, Stephen J; Desnuelle, Claude; van der Maarel, Silvère M

Genome haploidisation with chromosome 7 retention in oncocytic follicular thyroid carcinoma

嗜酸性滤泡性甲状腺癌中染色体7保留的基因组单倍体化

Corver, Willem E; Ruano, Dina; Weijers, Karin; den Hartog, Wietske C E; van Nieuwenhuizen, Merlijn P; de Miranda, Noel; van Eijk, Ronald; Middeldorp, Anneke; Jordanova, Ekaterina S; Oosting, Jan; Kapiteijn, Ellen; Hovens, Guido; Smit, Jan; van Wezel, Tom; Morreau, Hans

Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer

散发性和林奇综合征结直肠癌中PTPRG内含子1位点的肿瘤特异性甲基化

van Roon, Eddy H J; de Miranda, Noël F C C; van Nieuwenhuizen, Merlijn P; de Meijer, Emile J; van Puijenbroek, Marjo; Yan, Pearlly S; Huang, Tim H-M; van Wezel, Tom; Morreau, Hans; Boer, Judith M