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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature

I型唾液酸沉积症:如何缓解致残性肌阵挛性癫痫发作?——一项包含8例病例的多中心分析及文献回顾

Gburek-Augustat, Janina; Lee, I-Chun; Rubino, Marica; Topçu, Vehap; Chavez-Castillo, Melissa; Tu, Shao Ching; Shinawi, Marwan; Alfradique-Dunham, Isabel; Valtcheva, Manouela; Adarmes-Gómez, Astrid; Macias-Garcia, Daniel; Laura Muñoz-Delgado, Laura; Jesús, Silvia; Mir, Pablo; Merkenschlager, Andreas; Coppola, Antonietta

Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center

成骨不全症的分子和临床发现:来自单一三级中心的队列研究

Ozer, Emre; Kilic, Esra; Turan, Husnu Mutlu; Altan, Mustafa; Topcu, Vehap; Turhan, Banu; Bitkay, Abdurrahman; Kocaay, Pinar; Boyraz, Mehmet; Gurbuz, Fatih

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype

对一名疑似患有 Jeune 综合征的婴儿的全外显子组测序数据进行重新分析,揭示了 GRK2 基因中一个可能致病的变异:GRK2 是 Jeune 综合征表型的一个新关联基因。

Topcu, Vehap; Yildirim, Said Furkan; Turan, Husnu Mutlu

A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3

罕见的连续基因缺失导致毛发硫营养不良症4型和戊二酸尿症3型

Demir, Engin; Doğulu, Neslihan; Tuna Kırsaçlıoğlu, Ceyda; Topçu, Vehap; Eminoglu, Fatma Tuba; Kuloğlu, Zarife; Kansu, Aydan

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

土耳其人群中神经发育障碍多位点致病变异的患病率较高

Tadahiro Mitani ,Sedat Isikay ,Alper Gezdirici ,Elif Yilmaz Gulec ,Jaya Punetha ,Jawid M Fatih ,Isabella Herman ,Gulsen Akay ,Haowei Du ,Daniel G Calame ,Akif Ayaz ,Tulay Tos ,Gozde Yesil ,Hatip Aydin ,Bilgen Geckinli ,Nursel Elcioglu ,Sukru Candan ,Ozlem Sezer ,Haktan Bagis Erdem ,Davut Gul ,Emine Demiral ,Muhsin Elmas ,Osman Yesilbas ,Betul Kilic ,Serdal Gungor ,Ahmet C Ceylan ,Sevcan Bozdogan ,Ozge Ozalp ,Salih Cicek ,Huseyin Aslan ,Sinem Yalcintepe ,Vehap Topcu ,Yavuz Bayram ,Christopher M Grochowski ,Angad Jolly ,Moez Dawood ,Ruizhi Duan ,Shalini N Jhangiani ,Harsha Doddapaneni ,Jianhong Hu ,Donna M Muzny ,Zeynep Coban Akdemir ,Ender Karaca ,Claudia M B Carvalho ,Richard A Gibbs ,Jennifer E Posey ,James R Lupski ,Davut Pehlivan

Severe insulin resistance alters metabolism in mesenchymal progenitor cells

严重的胰岛素抵抗改变间充质祖细胞的代谢

Bharti Balhara, Alison Burkart, Vehap Topcu, Youn-Kyoung Lee, Chad Cowan, C Ronald Kahn, Mary-Elizabeth Patti

ADAMTS4 and ADAMTS5 knockout mice are protected from versican but not aggrecan or brevican proteolysis during spinal cord injury

ADAMTS4 和 ADAMTS5 基因敲除小鼠在脊髓损伤期间可免受多功能蛋白聚糖但不会免受聚集蛋白聚糖或短蛋白聚糖的蛋白水解

Kadir Demircan, Vehap Topcu, Tomoyuki Takigawa, Sumeyya Akyol, Tomoko Yonezawa, Gulfer Ozturk, Veli Ugurcu, Rukiye Hasgul, M Ramazan Yigitoglu, Omer Akyol, Daniel R McCulloch, Satoshi Hirohata