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

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

Two Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus

同一儿科患者同时患有两种不同的内分泌疾病:先天性肾上腺增生症和1型糖尿病

Gomes, Cindy; Bravo, Mariana; Goncalves Marques, Ariana; Rosmaninho-Salgado, Joana; Mirante, Alice

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features

甲基丙二酰辅酶A (CoA) 差向异构酶缺乏症,一种极其罕见的以神经系统症状为主的孤立性甲基丙二酸尿症病因。

Diogo, Rui; Rua, Inês B; Ferreira, Sara; Nogueira, Célia; Pereira, Cristina; Rosmaninho-Salgado, Joana; Diogo, Luísa

MC3R links nutritional state to childhood growth and the timing of puberty

MC3R 将营养状况与儿童成长和青春期时间联系起来

B Y H Lam #, A Williamson #, S Finer #, F R Day, J A Tadross, A Gonçalves Soares, K Wade, P Sweeney, M N Bedenbaugh, D T Porter, A Melvin, K L J Ellacott, R N Lippert, S Buller, J Rosmaninho-Salgado, G K C Dowsett, K E Ridley, Z Xu, I Cimino, D Rimmington, K Rainbow, K Duckett, S Holmqvist, A Khan, 

Heterozygous variants in SPTBN1 cause intellectual disability and autism

SPTBN1基因的杂合变异会导致智力障碍和自闭症。

Rosenfeld, Jill A; Xiao, Rui; Bekheirnia, Mir Reza; Kanani, Farah; Parker, Michael J; Koenig, Mary K; van Haeringen, Arie; Ruivenkamp, Claudia; Rosmaninho-Salgado, Joana; Almeida, Pedro M; Sá, Joaquim; Pinto Basto, Jorge; Palen, Emily; Oetjens, Kathryn F; Burrage, Lindsay C; Xia, Fan; Liu, Pengfei; Eng, Christine M; Yang, Yaping; Posey, Jennifer E; Lee, Brendan H

Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome

16p11.2微缺失综合征患者的双灶性生殖细胞瘤

Ventura, Mara; Gomes, Leonor; Rosmaninho-Salgado, Joana; Barros, Luísa; Paiva, Isabel; Melo, Miguel; Oliveira, Diana; Carrilho, Francisco

Isolation, characterization, and differentiation of progenitor cells from human adult adrenal medulla

人成年肾上腺髓质祖细胞的分离、鉴定和分化

Santana, Magda M; Chung, Kuei-Fang; Vukicevic, Vladimir; Rosmaninho-Salgado, Joana; Kanczkowski, Waldemar; Cortez, Vera; Hackmann, Klaus; Bastos, Carlos A; Mota, Alfredo; Schrock, Evelin; Bornstein, Stefan R; Cavadas, Cláudia; Ehrhart-Bornstein, Monika

Moderate long-term modulation of neuropeptide Y in hypothalamic arcuate nucleus induces energy balance alterations in adult rats

长期适度调节下丘脑弓状核中的神经肽Y可引起成年大鼠能量平衡改变

Sousa-Ferreira, Lígia; Garrido, Manuel; Nascimento-Ferreira, Isabel; Nobrega, Clévio; Santos-Carvalho, Ana; Alvaro, Ana Rita; Rosmaninho-Salgado, Joana; Kaster, Manuella; Kügler, Sebastian; de Almeida, Luís Pereira; Cavadas, Claudia