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

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

ARPC1B 生殖系突变患者的 T 细胞缺陷是导致联合免疫缺陷的原因。

Brigida, Immacolata; Zoccolillo, Matteo; Cicalese, Maria Pia; Pfajfer, Laurène; Barzaghi, Federica; Scala, Serena; Oleaga-Quintas, Carmen; Álvarez-Álvarez, Jesus A; Sereni, Lucia; Giannelli, Stefania; Sartirana, Claudia; Dionisio, Francesca; Pavesi, Luca; Benavides-Nieto, Marta; Basso-Ricci, Luca; Capasso, Paola; Mazzi, Benedetta; Rosain, Jeremie; Marcus, Nufar; Lee, Yu Nee; Somech, Raz; Degano, Massimo; Raiola, Giuseppe; Caorsi, Roberta; Picco, Paolo; Moncada Velez, Marcela; Khourieh, Joelle; Arias, Andrés Augusto; Bousfiha, Aziz; Issekutz, Thomas; Issekutz, Andrew; Boisson, Bertrand; Dobbs, Kerry; Villa, Anna; Lombardo, Angelo; Neven, Benedicte; Moshous, Despina; Casanova, Jean-Laurent; Franco, José Luis; Notarangelo, Luigi D; Scielzo, Cristina; Volpi, Stefano; Dupré, Loïc; Bustamante, Jacinta; Gattorno, Marco; Aiuti, Alessandro

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

对29例IKBKG/NEMO低活性突变半合子患者进行造血干细胞移植

Miot, Charline; Imai, Kohsuke; Imai, Chihaya; Mancini, Anthony J; Kucuk, Zeynep Yesim; Kawai, Tokomki; Nishikomori, Ryuta; Ito, Etsuro; Pellier, Isabelle; Dupuis Girod, Sophie; Rosain, Jeremie; Sasaki, Shinya; Chandrakasan, Shanmuganathan; Pachlopnik Schmid, Jana; Okano, Tsubasa; Colin, Estelle; Olaya-Vargas, Alberto; Yamazaki-Nakashimada, Marco; Qasim, Waseem; Espinosa Padilla, Sara; Jones, Andrea; Krol, Alfons; Cole, Nyree; Jolles, Stephen; Bleesing, Jack; Vraetz, Thomas; Gennery, Andrew R; Abinun, Mario; Güngör, Tayfun; Costa-Carvalho, Beatriz; Condino-Neto, Antonio; Veys, Paul; Holland, Steven M; Uzel, Gulbu; Moshous, Despina; Neven, Benedicte; Blanche, Stéphane; Ehl, Stephan; Döffinger, Rainer; Patel, Smita Y; Puel, Anne; Bustamante, Jacinta; Gelfand, Erwin W; Casanova, Jean-Laurent; Orange, Jordan S; Picard, Capucine