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

BOD1 Is Required for Cognitive Function in Humans and Drosophila

BOD1是人类和果蝇认知功能所必需的

Esmaeeli-Nieh, Sahar; Fenckova, Michaela; Porter, Iain M; Motazacker, M Mahdi; Nijhof, Bonnie; Castells-Nobau, Anna; Asztalos, Zoltan; Weißmann, Robert; Behjati, Farkhondeh; Tzschach, Andreas; Felbor, Ute; Scherthan, Harry; Sayfati, Seyed Morteza; Ropers, H Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Swedlow, Jason R; Schenck, Annette; Kuss, Andreas W

Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait

智力:孟德尔遗传病与多基因性状的共同遗传基础

Franić, Sanja; Groen-Blokhuis, Maria M; Dolan, Conor V; Kattenberg, Mathijs V; Pool, René; Xiao, Xiangjun; Scheet, Paul A; Ehli, Erik A; Davies, Gareth E; van der Sluis, Sophie; Abdellaoui, Abdel; Hansell, Narelle K; Martin, Nicholas G; Hudziak, James J; van Beijsterveldt, Catherina E M; Swagerman, Suzanne C; Hulshoff Pol, Hilleke E; de Geus, Eco J C; Bartels, Meike; Ropers, H Hilger; Hottenga, Jouke-Jan; Boomsma, Dorret I

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

一种新型TRMT1基因突变和罕见GRM1基因缺陷在两个阿塞拜疆家庭智力障碍中的作用

Davarniya, Behzad; Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Hosseini, Masoumeh; Maqsoud, Fariba; Farajollahi, Reza; Wienker, Thomas F; Ropers, H Hilger; Najmabadi, Hossein

Mutations in NSUN2 cause autosomal-recessive intellectual disability

NSUN2基因突变会导致常染色体隐性遗传性智力障碍

Abbasi-Moheb, Lia; Mertel, Sara; Gonsior, Melanie; Nouri-Vahid, Leyla; Kahrizi, Kimia; Cirak, Sebahattin; Wieczorek, Dagmar; Motazacker, M Mahdi; Esmaeeli-Nieh, Sahar; Cremer, Kirsten; Weißmann, Robert; Tzschach, Andreas; Garshasbi, Masoud; Abedini, Seyedeh S; Najmabadi, Hossein; Ropers, H Hilger; Sigrist, Stephan J; Kuss, Andreas W

ST3GAL3 mutations impair the development of higher cognitive functions

ST3GAL3基因突变会损害高级认知功能的发育

Hu, Hao; Eggers, Katinka; Chen, Wei; Garshasbi, Masoud; Motazacker, M Mahdi; Wrogemann, Klaus; Kahrizi, Kimia; Tzschach, Andreas; Hosseini, Masoumeh; Bahman, Ideh; Hucho, Tim; Mühlenhoff, Martina; Gerardy-Schahn, Rita; Najmabadi, Hossein; Ropers, H Hilger; Kuss, Andreas W

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

对一个患有常染色体隐性遗传卡赫里兹综合征(OMIM 612713)的家族进行新一代测序,发现SRD5A3基因存在纯合移码突变。

Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, H-Hilger; Kuss, Andreas W; Najmabadi, Hossein; Tzschach, Andreas

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

在非综合征型常染色体隐性遗传性智力低下中鉴定出TRAPPC9基因突变,该基因编码NIK和IKKβ结合蛋白。

Mir, Asif; Kaufman, Liana; Noor, Abdul; Motazacker, Mahdi M; Jamil, Talal; Azam, Matloob; Kahrizi, Kimia; Rafiq, Muhammad Arshad; Weksberg, Rosanna; Nasr, Tanveer; Naeem, Farooq; Tzschach, Andreas; Kuss, Andreas W; Ishak, Gisele E; Doherty, Dan; Ropers, H Hilger; Barkovich, A James; Najmabadi, Hossein; Ayub, Muhammad; Vincent, John B

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

17q12的复发性相互基因组重排与肾脏疾病、糖尿病和癫痫有关。

Mefford, Heather C; Clauin, Severine; Sharp, Andrew J; Moller, Rikke S; Ullmann, Reinhard; Kapur, Raj; Pinkel, Dan; Cooper, Gregory M; Ventura, Mario; Ropers, H Hilger; Tommerup, Niels; Eichler, Evan E; Bellanne-Chantelot, Christine

Gene expression changes in the course of neural progenitor cell differentiation.

神经祖细胞分化过程中基因表达的变化

Gurok Ulf, Steinhoff Christine, Lipkowitz Bettina, Ropers H-Hilger, Scharff Constance, Nuber Ulrike A