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

Undetected Neuromuscular Disease in Patients after Heart Transplantation

心脏移植患者中未被发现的神经肌肉疾病

Bekele, Biniam Melese; Gazzerro, Elisabetta; Schoenrath, Felix; Falk, Volkmar; Rost, Simone; Hoerning, Selina; Jelting, Yvonne; Zaum, Ann-Kathrin; Spuler, Simone; Knierim, Jan

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.

通过短读长全基因组测序在患有肢带型肌营养不良症的患者中检测到 13 号染色体上涉及 SGCG 的纯合倒位

Pluta Natalie, Hoffjan Sabine, Zimmer Frederic, Köhler Cornelia, Lücke Thomas, Mohr Jennifer, Vorgerd Matthias, Nguyen Hoa Huu Phuc, Atlan David, Wolf Beat, Zaum Ann-Kathrin, Rost Simone

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

通过逐步外显子组数据分析,我们对心肌病和心律失常患者的基因诊断有了新的认识。

Kolokotronis, Konstantinos; Pluta, Natalie; Klopocki, Eva; Kunstmann, Erdmute; Messroghli, Daniel; Maack, Christoph; Tejman-Yarden, Shai; Arad, Michael; Rost, Simone; Gerull, Brenda

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients

在无突变的早发性高危乳腺癌患者的正常体细胞中,存在单个CpG高甲基化、等位基因甲基化错误以及多个抑癌基因表达降低的情况。

Böck, Julia; Appenzeller, Silke; Haertle, Larissa; Schneider, Tamara; Gehrig, Andrea; Schröder, Jörg; Rost, Simone; Wolf, Beat; Bartram, Claus R; Sutter, Christian; Haaf, Thomas

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.

德国人群中DM2重复序列等位基因的分布和结构

Mahyera Alexis S, Schneider Tamara, Halliger-Keller Birgit, Schrooten Katja, Hörner Eva-Maria, Rost Simone, Kress Wolfram

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

在具有强直性肌营养不良样表型的患者中鉴定MBNL1变异

Larsen, Mirjam; Kress, Wolfram; Schoser, Benedikt; Hehr, Ute; Müller, Clemens R; Rost, Simone

Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation

父亲年龄对精子FOXK1和KCNA7甲基化及其向下一代传递的影响

Atsem, Stefanie; Reichenbach, Juliane; Potabattula, Ramya; Dittrich, Marcus; Nava, Caroline; Depienne, Christel; Böhm, Lena; Rost, Simone; Hahn, Thomas; Schorsch, Martin; Haaf, Thomas; El Hajj, Nady

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

重新审视 FSHD 的诊断方法:SMCHD1 突变导致 FSHD2,并作为 FSHD1 疾病严重程度的调节因子

Larsen, Mirjam; Rost, Simone; El Hajj, Nady; Ferbert, Andreas; Deschauer, Marcus; Walter, Maggie C; Schoser, Benedikt; Tacik, Pawel; Kress, Wolfram; Müller, Clemens R

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling

通过与凝血因子IX共表达和计算机蛋白质建模证实天然存在的VKORC1变体对华法林具有耐药性

Müller, Elisabeth; Keller, Alexander; Fregin, Andreas; Müller, Clemens R; Rost, Simone

Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?

野生大鼠和小鼠 VKORC1 基因的新突变——这是对华法林 50 年选择压力的回应吗?

Rost, Simone; Pelz, Hans-Joachim; Menzel, Sandra; MacNicoll, Alan D; León, Vanina; Song, Ki-Joon; Jäkel, Thomas; Oldenburg, Johannes; Müller, Clemens R