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

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

对94例Joubert综合征患者体格检查特征的系统分析:诊断的关键

Forsyth, RaeLynn; Parisi, Melissa A; Altintas, Burak; Malicdan, May Christine; Vilboux, Thierry; Knoll, Jasmine; Brooks, Brian P; Zein, Wadih M; Gahl, William A; Toro, Camilo; Gunay-Aygun, Meral

Studying the urine microbiome in superficial bladder cancer: samples obtained by midstream voiding versus cystoscopy

研究浅表性膀胱癌患者的尿液微生物组:中段排尿与膀胱镜检查获取的样本比较

Hourigan, Suchitra K; Zhu, Wei; S W Wong, Wendy; Clemency, Nicole C; Provenzano, Marina; Vilboux, Thierry; Niederhuber, John E; Deeken, John; Chung, Simon; McDaniel-Wiley, Kim; Trump, Donald

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

携带 KIAA1109 双等位基因变异的患者细胞内体运输缺陷

Megan S Kane, Callie J Diamonstein, Natalie Hauser, John F Deeken, John E Niederhuber, Thierry Vilboux

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

由于 PIGM 启动子突变导致糖基磷脂酰肌醇缺乏症导致脑静脉和门静脉血栓形成、巨头畸形和非典型失神性癫痫

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S Shouval, Dana

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

对一般健康人群队列进行基因型优先分析,支持采用基因检测诊断病因不明的遗传性血管性水肿。

Bodian, Dale L; Vilboux, Thierry; Hauser, Natalie S

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Joubert综合征:单中心前瞻性评估的99例患者的眼科检查结果与基因型和肝肾疾病的相关性

Brooks, Brian P; Zein, Wadih M; Thompson, Amy H; Mokhtarzadeh, Maryam; Doherty, Daniel A; Parisi, Melissa; Glass, Ian A; Malicdan, May C; Vilboux, Thierry; Vemulapalli, Meghana; Mullikin, James C; Gahl, William A; Gunay-Aygun, Meral

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

辅酶Q10生物合成途径的一种新型先天性缺陷:由COQ5 C-甲基转移酶缺乏引起的共济失调和静止性脑肌病

Malicdan, May Christine V; Vilboux, Thierry; Ben-Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode-Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C; Ferreira, Carlos R; Shelestovich, Natalia; Marek-Yagel, Dina; Pri-Chen, Hadass; Blatt, Ilan; Niederhuber, John E; He, Langping; Toro, Camilo; Taylor, Robert W; Deeken, John; Yardeni, Tal; Wallace, Douglas C; Gahl, William A; Anikster, Yair

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

单中心前瞻性评估100例Joubert综合征患者的肝病特征

Strongin, Anna; Heller, Theo; Doherty, Dan; Glass, Ian A; Parisi, Melissa A; Bryant, Joy; Choyke, Peter; Turkbey, Baris; Daryanani, Kailash; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Malicdan, May C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

一名患有早发性癫痫的男孩,其 CDKL5 基因的另一种转录本发生突变

Bodian, Dale L; Schreiber, John M; Vilboux, Thierry; Khromykh, Alina; Hauser, Natalie S

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

在大型社区医院对患有先天性心脏缺陷的儿科患者进行基因组测序的经验

Hauser, Natalie S; Solomon, Benjamin D; Vilboux, Thierry; Khromykh, Alina; Baveja, Rajiv; Bodian, Dale L