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

Novel Phenotypic Clusters of Youth-Onset Type 2 Diabetes Offer No Added Prognostic Value to Simple Clinical Measures

新的青少年发病型2型糖尿病表型簇对简单的临床指标没有额外的预后价值

Kreienkamp, Raymond J; Smith, Kirk; Wangden, Thinley Yidzin; Deutsch, Aaron J; Gage, Steven D; Bellatorre, Anna; Dabelea, Dana M; D'Agostino, Ralph B; Dolan, Lawrence M; Florez, Jose C; Jensen, Elizabeth T; Pihoker, Catherine; Pollin, Toni I; Shah, Amy S; Szczerbinski, Lukasz; Udler, Miriam S; Srinivasan, Shylaja

Author Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

作者更正:对 51,256 例 2 型糖尿病患者和 370,487 例对照者的罕见变异分析揭示了单基因糖尿病基因的致病谱

Huerta-Chagoya, Alicia; Schroeder, Philip; Mandla, Ravi; Li, Jiang; Morris, Lowri; Vora, Maheak; Alkanaq, Ahmed; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G S; Bonàs-Guarch, Silvia; Mollandin, Fanny; Cole, Joanne B; Porneala, Bianca; Westerman, Kenneth; Li, Josephine H; Pollin, Toni I; Florez, Jose C; Gloyn, Anna L; Carey, David J; Cebola, Inês; Mirshahi, Uyenlinh L; Manning, Alisa K; Leong, Aaron; Udler, Miriam; Mercader, Josep M

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

葡萄糖激酶变异体的功能表征有助于单基因糖尿病的临床解读。

Rajesh Varsha, Ibarra Dora Evelyn, Yang Jing, Zhang Haichen, Barrett Amy, Kaplan Eleanor G, Kumthekar Amit, Sunden Fanny, Sun Han, Addala Ananta, Misakian Aaron, Letourneau-Freiberg Lisa R, Jodarski Colleen O, Maloney Kristin A, Saint-Martin Cécile, Fordyce Polly M, Pollin Toni I, Gloyn Anna L

Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT)

通过创建数据共享平台推进单基因糖尿病研究和临床护理:精准糖尿病联盟 (PREDICT)

McCullough, Michael E; Letourneau-Freiberg, Lisa R; Naylor, Rochelle N; Greeley, Siri Atma W; Broome, David T; Tosur, Mustafa; Kreienkamp, Raymond J; Cobry, Erin; Rasouli, Neda; Pollin, Toni I; Udler, Miriam S; Billings, Liana K; Desouza, Cyrus; Evans-Molina, Carmella; Birz, Suzi; Furner, Brian; Watkins, Michael; Ott, Kaitlyn; Volchenboum, Samuel L; Philipson, Louis H

MODY Calculator and Clinical Features Routinely Used to Distinguish MODY From Type 2 Diabetes in Adults Perform Poorly for Youth Clinically Diagnosed With Type 2 Diabetes

MODY计算器和临床特征通常用于区分成人MODY和2型糖尿病,但对于临床诊断为2型糖尿病的青少年患者,其区分效果不佳。

Kreienkamp, Raymond J; Shields, Beverley M; Pollin, Toni I; Shah, Amy S; Liese, Angela D; Bellatorre, Anna; Pihoker, Catherine; Tosur, Mustafa; Florez, Jose C; Srinivasan, Shylaja; Hattersley, Andrew T; Udler, Miriam S; Redondo, Maria J

Attitudes toward returning pathogenic KCNQ1 variant and uptake of cascade screening in the Amish

阿米什人对携带致病性KCNQ1变异基因的态度以及对级联筛查的接受程度

Streeten, Elizabeth A; Guan, Yue; Ryan, Kathleen A; Daue, Melanie; Pollin, Toni I; Wood, Kristen C R; Maloney, Kristin A; Shuldiner, Alan R; Mitchell, Braxton D; Chowdhury, Devyani; Beitelshees, Amber L

Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

出版商更正:对 51,256 例 2 型糖尿病患者和 370,487 例对照者的罕见变异分析揭示了单基因糖尿病基因的致病谱

Huerta-Chagoya, Alicia; Schroeder, Philip; Mandla, Ravi; Li, Jiang; Morris, Lowri; Vora, Maheak; Alkanaq, Ahmed; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G S; Bonàs-Guarch, Silvia; Mollandin, Fanny; Cole, Joanne B; Porneala, Bianca; Westerman, Kenneth; Li, Josephine H; Pollin, Toni I; Florez, Jose C; Gloyn, Anna L; Carey, David J; Cebola, Inês; Mirshahi, Uyenlinh L; Manning, Alisa K; Leong, Aaron; Udler, Miriam; Mercader, Josep M

Genetic architecture and biology of youth-onset type 2 diabetes

青少年发病型2型糖尿病的遗传结构和生物学

Kwak, Soo Heon; Srinivasan, Shylaja; Chen, Ling; Todd, Jennifer; Mercader, Josep M; Jensen, Elizabeth T; Divers, Jasmin; Mottl, Amy K; Pihoker, Catherine; Gandica, Rachelle G; Laffel, Lori M; Isganaitis, Elvira; Haymond, Morey W; Levitsky, Lynne L; Pollin, Toni I; Florez, Jose C; Flannick, Jason

The Challenge of Lorazepam Failure: Malignant Catatonia Treated Successfully with Valproate

劳拉西泮治疗失败的挑战:丙戊酸钠成功治疗恶性紧张症

Humphries, Elizabeth M; Ahn, Kwangmi; Kember, Rachel L; Lopes, Fabiana L; Mocci, Evelina; Peralta, Juan M; Blangero, John; Glahn, David C; Goes, Fernando S; Zandi, Peter P; Kochunov, Peter; Van Hout, Cristopher; Shuldiner, Alan R; Pollin, Toni I; Mitchell, Braxton D; Bucan, Maja; Hong, L Elliot; McMahon, Francis J; Ament, Seth A; Kim, J; Garrels, E; Zamiri, A; Tran, K; Francis, A

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

ClinGen低外显率/风险等位基因工作组关于风险等位基因证据整理、分类和报告的建议

Schmidt, Ryan J; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A; Coe, Bradley P; Conlin, Laura K; Ganapathi, Mythily; Garcia, John; Gollob, Michael H; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; McGoldrick, Kelly; Palculict, T Blake; Pesaran, Tina; Pollin, Toni I; Qian, Emily; Rehm, Heidi L; Riggs, Erin R; Schilit, Samantha L P; Sergouniotis, Panagiotis I; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S