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

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

MBD5基因功能紊乱会导致一系列精神病理学和神经发育异常。

Hodge, J C; Mitchell, E; Pillalamarri, V; Toler, T L; Bartel, F; Kearney, H M; Zou, Y S; Tan, W H; Hanscom, C; Kirmani, S; Hanson, R R; Skinner, S A; Rogers, R C; Everman, D B; Boyd, E; Tapp, C; Mullegama, S V; Keelean-Fuller, D; Powell, C M; Elsea, S H; Morton, C C; Gusella, J F; DuPont, B; Chaubey, A; Lin, A E; Talkowski, M E

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

12p12.1 区域的 SOX5 单倍体不足与发育迟缓相关,表现为显著的语言发育迟缓、行为问题和轻微的畸形特征。

Lamb, Allen N; Rosenfeld, Jill A; Neill, Nicholas J; Talkowski, Michael E; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I; Rosenbaum, Kenneth; Vallee, Stephanie E; Moeschler, John B; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron-Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M; Opheim, Kent E; Descartes, Maria; Eichler, Evan E; Morton, Cynthia C; Gusella, James F; Schultz, Roger A; Ballif, Blake C; Shaffer, Lisa G