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

A curated list of immune system associated genes related to cancer

一份与癌症相关的免疫系统基因精选列表

Al-Mohannadi, Anjud; Awada, Zainab; Lo, Bernice; Mifsud, Borbala; Deola, Sara

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency

在阿尔及利亚一个患有 CD19 复合物缺陷的家族中,发现了一种新的纯合移码突变,该突变可能导致无义介导的 mRNA 降解。

Belaid, Brahim; Chan, Koon-Wing; Lamara Mahammed, Lydia; Leung, Daniel; Makhloufi, Sara; Bendaoud, Fadila; Sakhri, Hassiba; Berkani, Lilya Meriem; Allam, Ines; Merah, Fatma; Baaziz, Hadda; Lo, Bernice; Rosa Duque, Jaime Sou; Lau, Yu Lung; Djidjik, Reda

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

高IgM综合征病例中意义不明的两种变异:对诊断和治疗的影响

Agrebi Nourhen, Mackeh Rafah, Alsabbagh Mohamed, Elmi Asha, Al-Marri Amnah A, Hubrack Satanay Z, Purayil Saleema C, Karim Mohammed Yousuf, Hassan Amel, Lo Bernice

Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature

新型SCYL2基因突变与先天性多发性关节挛缩症4:病例报告及文献综述

Zamel, Khaled; Al-Subaiey, Abdulrahman Ahmed; Alsabbagh, Mohamed; Fadda, Abeer; Saeed, Amira; Mourao Pacheco, Bruno; Lo, Bernice; Benini, Ruba

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East

癫痫的复杂病因:中东患者的基因分析和HLA关联研究

Fadda, Abeer; Alsabbagh, Mohamed; Vasudeva, Dhanya; Saeed, Amira; Aglan Tarek, Sara; Hubrack, Satanay Z; Benini, Ruba; Zamel, Khaled; Lo, Bernice

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

MINPP1 的双等位基因功能丧失变异导致脑桥小脑发育不全,并伴有特征性的严重神经发育障碍

Al-Maraghi Aljazi, Shaath Rulan, Ford Katherine, Aamer Waleed, AlRayahi Jehan, Hussein Sura, Aliyev Elbay, Agrebi Nourhen, Kohailan Muhammad, Hubrack Satanay Z, Palaniswamy Sasirekha, Kennedy Adam D, DeBalsi Karen L, Elsea Sarah H, Benini Ruba, Ben-Omran Tawfeg, Lo Bernice, Akil Ammira S A, Fakhro Khalid A

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

Burden of Mendelian disorders in a large Middle Eastern biobank

中东大型生物样本库中孟德尔遗传病的负担

Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; Al-Kurbi, Alya A; Al-Saei, Omayma; Kohailan, Muhammad; Krishnamoorthy, Navaneethakrishnan; Palaniswamy, Sasirekha; Al-Malki, Khulod; Abbasi, Saleha; Agrebi, Nourhen; Abbaszadeh, Fatemeh; Akil, Ammira S Al-Shabeeb; Badii, Ramin; Ben-Omran, Tawfeg; Lo, Bernice; Mokrab, Younes; Fakhro, Khalid A

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform

IL7R基因中一种新的同义变异导致可溶性亚型优先表达。

Mackeh, Rafah; El Bsat, Yasmin; Elmi, Asha; Bibawi, Hani; Karim, Mohammed Yousuf; Hassan, Amel; Lo, Bernice

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

CARMIL2缺陷引起的联合免疫缺陷的演变和长期预后

Kolukisa, Burcu; Baser, Dilek; Akcam, Bengu; Danielson, Jeffrey; Bilgic Eltan, Sevgi; Haliloglu, Yesim; Sefer, Asena Pinar; Babayeva, Royale; Akgun, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Kendir Demirkol, Yasemin; Zhang, Yu; Gonzaga-Jauregui, Claudia; Jimenez Heredia, Raul; Kasap, Nurhan; Kiykim, Ayca; Ozek Yucel, Esra; Gok, Veysel; Unal, Ekrem; Pac Kisaarslan, Aysenur; Nepesov, Serdar; Baysoy, Gokhan; Onal, Zerrin; Yesil, Gozde; Celkan, Tulin Tiraje; Cokugras, Haluk; Camcioglu, Yildiz; Eken, Ahmet; Boztug, Kaan; Lo, Bernice; Karakoc-Aydiner, Elif; Su, Helen C; Ozen, Ahmet; Chatila, Talal A; Baris, Safa