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

Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata

斑秃中特应性和自身免疫合并症的全基因组关联研究

Zhang, Yu; He, Fangfang; Lei, Mozi; Fan, Wenhui; Liu, Xingyu; Tao, Ying; Wang, Weinan; Wang, Bingshun; Gong, Likun; Chen, Jing; Herrera-Rivero, Marisol; Gossmann, Yasmina; Awasthi, Swapnil; Cesarato, Nicole; Ripke, Stephan; Blaumeiser, Bettina; Blume-Peytavi, Ulrike; Lutz, Gerhard; Redler, Silke; Nöthen, Markus M; Betz, Regina C; Basmanav, F Buket

Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

IFAP综合征中复发性MBTPS2变异c.970+5G>A:突变热点

Kumar, Sheetal; Ahmed, Sohail; Incardona, Pietro; Cesarato, Nicole; Zhang, Yue; Natale, Monica Ines; Khan, Muhammad Javed; Valinotto, Laura; Ullah, Kifayat; Ahmad, Wasim; Irurzun, Ines; Krawitz, Peter M; Liang, Bo; Betz, Regina C

Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata

斑秃中特应性和自身免疫合并症的全基因组关联研究

Zou, Yuhong; Jiang, Xi; Li, Na; Zhong, Shasha; Zhang, Shimin; Ji, Yuanqing; Yu, Haitao; Zeng, Xiangfang; Deng, Aihua; Qiao, Shiyan; Shen, Tao; Zhou, Yunyan; Gao, Jun; Xiong, Xinwei; Chen, Congying; Herrera-Rivero, Marisol; Gossmann, Yasmina; Awasthi, Swapnil; Cesarato, Nicole; Ripke, Stephan; Blaumeiser, Bettina; Blume-Peytavi, Ulrike; Lutz, Gerhard; Redler, Silke; Nöthen, Markus M; Betz, Regina C; Basmanav, F Buket

Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma

在一个患有非综合征性条纹状掌跖角化症的家族中发现了双等位基因DSG1剪接位点变异

Ahmed, Sohail; Cesarato, Nicole; Li, Ye; Xiong, Xing; Ullah, Kifayat; Khan, Hammal; Khan, Muhammad Javed; Thiele, Holger; Ahmad, Wasim; Hasni, Muhammad Sharif; Betz, Regina C

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

对107名个体队列中难梳头发综合征的遗传谱进行评估

Basmanav, F Buket; Cesarato, Nicole; Kumar, Sheetal; Borisov, Oleg; Kokordelis, Pavlos; Ralser, Damian J; Wehner, Maria; Axt, Daisy; Xiong, Xing; Thiele, Holger; Dolgin, Vadim; Gossmann, Yasmina; Fricker, Nadine; Dewenter, Malin Katharina; Weller, Karsten; Suri, Mohnish; Reichenbach, Herbert; Oji, Vinzenz; Addor, Marie-Claude; Ramirez, Karla; Stewart, Helen; Garcia Bartels, Natalie; Weibel, Lisa; Wagner, Nicola; George, Susannah; Kilic, Arzu; Tantcheva-Poor, Iliana; Stewart, Alison; Dikow, Nicola; Blaumeiser, Bettina; Medvecz, Márta; Blume-Peytavi, Ulrike; Farrant, Paul; Grimalt, Ramon; Bertok, Sara; Bradley, Lisa; Eskin-Schwartz, Marina; Birk, Ohad Samuel; Bygum, Anette; Simon, Michel; Krawitz, Peter; Fischer, Christine; Hamm, Henning; Fritz, Günter; Betz, Regina C

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

SREBF1 基因突变(编码固醇调节元件结合转录因子 1)可导致常染色体显性 IFAP 综合征

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M Kroisel, Gianluca Tadini, 

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

C3ORF52 的功能丧失变异导致局部常染色体隐性遗传性毛发稀少症

Liron Malki, Ofer Sarig, Nicole Cesarato, Janan Mohamad, Talia Canter, Sari Assaf, Mor Pavlovsky, Dan Vodo, Yossi Anis, Ofer Bihari, Kiril Malovitski, Andrea Gat, Holger Thiele, Bethany E Perez White, Liat Samuelov, Arti Nanda, Amy S Paller, Regina C Betz, Eli Sprecher

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

COL7A1基因中明显的错义变异通过影响剪接导致严重的隐性营养不良型大疱性表皮松解症

Uddin, Syed Ashraf; Cesarato, Nicole; Humbatova, Aytaj; Schmidt, Axel; urRehman, Fazal; Naeem, Muhammad; Tareen, Abdul Samad; Wolf, Sabrina; Panezai, Muhammad Anwar; Thiele, Holger; Wali, Abdul; Fölster-Holst, Regina; Basit, Sulman; Ayub, Muhammad; Betz, Regina C