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

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

长读长靶向测序揭示了C9orf72相关疾病的临床病理关联

DeJesus-Hernandez, Mariely; Aleff, Ross A; Jackson, Jazmyne L; Finch, NiCole A; Baker, Matthew C; Gendron, Tania F; Murray, Melissa E; McLaughlin, Ian J; Harting, John R; Graff-Radford, Neill R; Oskarsson, Björn; Knopman, David S; Josephs, Keith A; Boeve, Bradley F; Petersen, Ronald C; Fryer, John D; Petrucelli, Leonard; Dickson, Dennis W; Rademakers, Rosa; Ebbert, Mark T W; Wieben, Eric D; van Blitterswijk, Marka

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1

肌强直性营养不良1型患者的Fuchs内皮角膜营养不良

Winkler, Nelson S; Milone, Margherita; Martinez-Thompson, Jennifer M; Raja, Harish; Aleff, Ross A; Patel, Sanjay V; Fautsch, Michael P; Wieben, Eric D; Baratz, Keith H

Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4

Fuchs 内皮角膜营养不良患者角膜内皮细胞中 TCF4 三核苷酸重复序列扩增与否的基因表达

Wieben, Eric D; Aleff, Ross A; Tang, Xiaojia; Kalari, Krishna R; Maguire, Leo J; Patel, Sanjay V; Baratz, Keith H; Fautsch, Michael P

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.

转录因子 4 (TCF4) 基因中的三核苷酸重复扩增导致 Fuchs 内皮角膜营养不良中广泛的 mRNA 剪接变化

Wieben Eric D, Aleff Ross A, Tang Xiaojia, Butz Malinda L, Kalari Krishna R, Highsmith Edward W, Jen Jin, Vasmatzis George, Patel Sanjay V, Maguire Leo J, Baratz Keith H, Fautsch Michael P

Repopulation of vascularized bone allotransplants with recipient-derived cells: detection by laser capture microdissection and real-time PCR

利用受体来源细胞对血管化骨同种异体移植进行再填充:激光捕获显微切割和实时PCR检测

Pelzer, Michael; Larsen, Mikko; Friedrich, Patricia F; Aleff, Ross A; Bishop, Allen T