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

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

对 169 例膀胱外翻-尿道上裂复合征患者进行 CNV 分析

von Lowtzow, Catharina; Hofmann, Andrea; Zhang, Rong; Marsch, Florian; Ebert, Anne-Karoline; Rösch, Wolfgang; Stein, Raimund; Boemers, Thomas M; Hirsch, Karin; Marcelis, Carlo; Feitz, Wouter F J; Brusco, Alfredo; Migone, Nicola; Di Grazia, Massimo; Moebus, Susanne; Nöthen, Markus M; Reutter, Heiko; Ludwig, Michael; Draaken, Markus

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

全基因组关联研究和荟萃分析确定ISL1是膀胱外翻的全基因组显著易感基因

Draaken, Markus; Knapp, Michael; Pennimpede, Tracie; Schmidt, Johanna M; Ebert, Anne-Karolin; Rösch, Wolfgang; Stein, Raimund; Utsch, Boris; Hirsch, Karin; Boemers, Thomas M; Mangold, Elisabeth; Heilmann, Stefanie; Ludwig, Kerstin U; Jenetzky, Ekkehart; Zwink, Nadine; Moebus, Susanne; Herrmann, Bernhard G; Mattheisen, Manuel; Nöthen, Markus M; Ludwig, Michael; Reutter, Heiko

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

全基因组关联研究和鼠类表达数据表明,WNT3 和 WNT9b 之间高度保守的 32 kb 基因间区可能是孤立性经典膀胱外翻的易感基因位点。

Reutter, Heiko; Draaken, Markus; Pennimpede, Tracie; Wittler, Lars; Brockschmidt, Felix F; Ebert, Anne-Karolin; Bartels, Enrika; Rösch, Wolfgang; Boemers, Thomas M; Hirsch, Karin; Schmiedeke, Eberhard; Meesters, Christian; Becker, Tim; Stein, Raimund; Utsch, Boris; Mangold, Elisabeth; Nordenskjöld, Agneta; Barker, Gillian; Kockum, Christina Clementsson; Zwink, Nadine; Holmdahl, Gundula; Läckgren, Göran; Jenetzky, Ekkehart; Feitz, Wouter F J; Marcelis, Carlo; Wijers, Charlotte H W; Van Rooij, Iris A L M; Gearhart, John P; Herrmann, Bernhard G; Ludwig, Michael; Boyadjiev, Simeon A; Nöthen, Markus M; Mattheisen, Manuel

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

VATER/VACTERL综合征患者中1q41、2q37.3和8q24.3位点的新生微重复

Hilger, Alina; Schramm, Charlotte; Pennimpede, Tracie; Wittler, Lars; Dworschak, Gabriel C; Bartels, Enrika; Engels, Hartmut; Zink, Alexander M; Degenhardt, Franziska; Müller, Annette M; Schmiedeke, Eberhard; Grasshoff-Derr, Sabine; Märzheuser, Stefanie; Hosie, Stuart; Holland-Cunz, Stefan; Wijers, Charlotte H W; Marcelis, Carlo L M; van Rooij, Iris A L M; Hildebrandt, Friedhelm; Herrmann, Bernhard G; Nöthen, Markus M; Ludwig, Michael; Reutter, Heiko; Draaken, Markus

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

VATER/VACTERL 综合征:七对新双胞胎的鉴定、文献系统综述及经典双胞胎分析

Bartels, Enrika; Schulz, Anna C; Mora, Nicole W; Pineda-Alvarez, Daniel E; Wijers, Charlotte H W; Marcelis, Carlo M; Stressig, Rüdiger; Ritgen, Jochen; Schmiedeke, Eberhard; Mattheisen, Manuel; Draaken, Markus; Hoffmann, Per; Hilger, Alina C; Dworschak, Gabriel C; Baudisch, Friederike; Ludwig, Michael; Bagci, Soyhan; Müller, Andreas; Gembruch, Ulrich; Geipel, Annegret; Berg, Christoph; Bartmann, Peter; Nöthen, Markus M; van Rooij, Iris A L M; Solomon, Benjamin D; Reutter, Heiko M

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

毒蕈碱乙酰胆碱受体 M3 突变导致膀胱疾病和类似腹壁皱褶综合征

Weber Stefanie, Thiele Holger, Mir Sevgi, Toliat Mohammad Reza, Sozeri Betül, Reutter Heiko, Draaken Markus, Ludwig Michael, Altmüller Janine, Frommolt Peter, Stuart Helen M, Ranjzad Parisa, Hanley Neil A, Jennings Rachel, Newman William G, Wilcox Duncan T, Thiel Uwe, Schlingmann Karl Peter, Beetz Rolf, Hoyer Peter F, Konrad Martin, Schaefer Franz, Nürnberg Peter, Woolf Adrian S