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

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

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

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

Rubinstein-Taybi综合征中CREBBP基因内重复的新型变异:一例病例报告拓展了基因型-表型谱

Dursun, Enes; Uctepe, Eyyup; Guler, Serhat; Mancilar, Hanifenur; Yesilyurt, Ahmet

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

EEFSEC 缺乏症:一种伴有早发性神经退行性变的硒病

Laugwitz, Lucia; Buchert, Rebecca; Olguín, Patricio; Estiar, Mehrdad A; Atanasova, Mihaela; Jr, Wilson Marques; Enssle, Jörg; Marsden, Brian; Avilés, Javiera; González-Gutiérrez, Andrés; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J; Diebold, Uta; Mueller, Amelie J; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uirá Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Krägeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S; Gan-Or, Ziv; Haack, Tobias B

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

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review

一名青少年男孩反复出现腹痛发作的钴胺素J紊乱症:病例报告及文献综述

Aslan, Deniz; Uctepe, Eyyup; Yesilyurt, Ahmet; Esen, Fatma Nisa; Dalgıç, Buket

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

CASP2基因的双等位基因截断变异是导致无脑回畸形的神经发育障碍的根本原因。

Uctepe, Eyyup; Vona, Barbara; Esen, Fatma Nisa; Sonmez, F Mujgan; Smol, Thomas; Tümer, Sait; Mancılar, Hanifenur; Geylan Durgun, Dilan Ece; Boute, Odile; Moghbeli, Meysam; Ghayoor Karimiani, Ehsan; Hashemi, Narges; Bakhshoodeh, Behnoosh; Kim, Hyung Goo; Maroofian, Reza; Yesilyurt, Ahmet

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

一名患有反流性疾病和SIN3A基因新生缺失的Witteveen-Kolk综合征患者

Uctepe, Eyyup; Kandemir, Nefise; Bir, Firdevs Dinçsoy; Karhan, Asuman Nur; Tumer, Sait; Ondes, Emine Busra; Konuskan, Bahadır; Yesilyurt, Ahmet

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

87 名成年人的 ARID1B 相关疾病:自然史和自我维持

van der Sluijs, P J; Gösgens, M; Dingemans, A J M; Striano, P; Riva, A; Mignot, C; Faudet, A; Vasileiou, G; Walther, M; Schrier Vergano, S A; Alders, M; Alkuraya, F S; Alorainy, I; Alsaif, H S; Anderlid, B; Bache, I; van Beek, I; Blanluet, M; van Bon, B W; Brunet, T; Brunner, H; Carriero, M L; Charles, P; Chatron, N; Coccia, E; Dubourg, C; Earl, R K; Eichler, E E; Faivre, L; Foulds, N; Graziano, C; Guerrot, A M; Hashem, M O; Heide, S; Heron, D; Hickey, S E; Hopman, S M J; Kattentidt-Mouravieva, A; Kerkhof, J; Klein Wassink-Ruiter, J S; Kurtz-Nelson, E C; Kušíková, K; Kvarnung, M; Lecoquierre, F; Leszinski, G S; Loberti, L; Magoulas, P L; Mari, F; Maystadt, I; Merla, G; Milunsky, J M; Moortgat, S; Nicolas, G; Leary, M O '; Odent, S; Ozmore, J R; Parbhoo, K; Pfundt, R; Piccione, M; Pinto, A M; Popp, B; Putoux, A; Rehm, H L; Reis, A; Renieri, A; Rosenfeld, J A; Rossi, M; Salzano, E; Saugier-Veber, P; Seri, M; Severi, G; Sonmez, F M; Strobl-Wildemann, G; Stuurman, K E; Uctepe, E; Van Esch, H; Vitetta, G; de Vries, B B A; Wahl, D; Wang, T; Zacher, P; Heitink, K R; Ropers, F G; Steenbeek, D; Rybak, T; Santen, G W E

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

TRAPPC9相关智力障碍:两例新病例报告及文献综述

Uctepe, Eyyup; Yesilyurt, Ahmet; Esen, Fatma Nisa; Tumer, Sait; Mancilar, Hanifenur; Sonmez, Fatma Mujgan