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

Cell non-autonomous signaling through the conserved C. elegans glycoprotein hormone receptor FSHR-1 regulates cholinergic neurotransmission.

通过保守的秀丽隐杆线虫糖蛋白激素受体 FSHR-1 进行的细胞非自主信号传导调节胆碱能神经传递

Buckley Morgan, Jacob William P, Bortey Letitia, McClain Makenzi E, Ritter Alyssa L, Godfrey Amy, Munneke Allyson S, Ramachandran Shankar, Kenis Signe, Kolnik Julie C, Olofsson Sarah, Nenadovich Milica, Kutoloski Tanner, Rademacher Lillian, Alva Alexandra, Heinecke Olivia, Adkins Ryan, Parkar Shums, Bhagat Reesha, Lunato Jaelin, Beets Isabel, Francis Michael M, Kowalski Jennifer R

Cell non-autonomous signaling through the conserved C. elegans glycopeptide hormone receptor FSHR-1 regulates cholinergic neurotransmission

通过保守的秀丽隐杆线虫糖肽激素受体 FSHR-1 进行的细胞非自主信号传导调节胆碱能神经传递。

Buckley, Morgan; Jacob, William P; Bortey, Letitia; McClain, Makenzi; Ritter, Alyssa L; Godfrey, Amy; Munneke, Allyson S; Ramachandran, Shankar; Kenis, Signe; Kolnik, Julie C; Olofsson, Sarah; Adkins, Ryan; Kutoloski, Tanner; Rademacher, Lillian; Heinecke, Olivia; Alva, Alexandra; Beets, Isabel; Francis, Michael M; Kowalski, Jennifer R

Expanding the phenotypic spectrum of ARCN1-related syndrome

扩展ARCN1相关综合征的表型谱

Ritter, Alyssa L; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amélie; Ohl, Jeanine; Kukolich, Mary K; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R; Sullivan, Jennifer A; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C; Izumi, Kosuke

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

整合SOX4相关神经发育综合征的临床和遗传学定义

Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N; Ritter, Alyssa L; Leonard, Jacqueline M M; Savatt, Juliann M; Douglass, Kristen; Myers, Scott M; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C E; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J; de Lange, Iris M; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frédéric; Baker, Janice; Fabie, Noelle; Weaver, K; Shillington, Amelle; Hopkin, Robert J; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia Al; Bökenkamp, Regina; Vergano, Samantha; Seco Moro, Maria Noelia; Díaz de Bustamante, Aranzazu; Misra, Vinod K; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C; Lefebvre, Veronique

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

进一步阐明KAT6B疾病的临床谱系和致病变异的等位基因系列

Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S; Verloes, Alain; Shillington, Amelle G; Izumi, Kosuke; Ritter, Alyssa L; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M; Bedoukian, Emma; Kukolich, Mary K; Innes, A Micheil; Ediae, Grace U; Sawyer, Sarah L; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R; Probst, Frank J; Bassetti, Jennifer A; Sutton, Reid V; Gibbs, Richard A; Brown, Chester; Boone, Philip M; Holm, Ingrid A; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F; Coubes, Christine; Laquerrière, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Millan S; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A; Bosanko, Katherine A; Dieterich, Klaus; Carey, John C; Chong, Jessica X; Nickerson, Deborah A; Bamshad, Michael J; Lee, Brendan H; Yang, Xiang-Jiao; Lupski, James R; Campeau, Philippe M

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

NKAP基因错义突变导致转录调控紊乱,其特征为马凡氏体型和认知障碍。

Fiordaliso, Sarah K; Iwata-Otsubo, Aiko; Ritter, Alyssa L; Quesnel-Vallières, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E V; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, Kosuke

Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome

伴有室性心动过速的心脏纤维瘤:痣样基底细胞癌综合征的一种罕见临床表现

Ritter, Alyssa L; Granquist, Eric J; Iyer, V Ramesh; Izumi, Kosuke