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

Markedly Low Prevalence of Fatty Liver Despite Obesity in Prader-Willi Syndrome: A Search for Protective Genetic Markers

尽管普拉德-威利综合征患者肥胖,但脂肪肝患病率却显著偏低:寻找保护性遗传标记

Murik, Omer; Gross-Tsur, Varda; Mann, Tzvia; Zeevi, David A; Baraghithy, Saja; Altarescu, Gheona; Tam, Joseph; Hirsch, Harry J; Shteyer, Eyal

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease

专家意见:如何促进罕见病患者家庭内部沟通——以法布里病为例

Germain, Dominique P; Al-Jasmi, Fatma; Altarescu, Gheona; Azevedo, Olga; Barreto, Fellype C; Burlina, Alessandro P; Ezgü, Fatih; Laney, Dawn A; Linhart, Ales; Maski, Manish; Moiseev, Sergey; Niu, Dau-Ming; Nochioka, Kotaro; Ouyang, Yan; Onay, Huseyin; Pavlou, Mary; Pachter, Nicholas; Politei, Juan; Rawda, Sunbul; Steeds, Richard P; Tuttolomondo, Antonino; Yu, Wen-Chung; West, Michael L; Berger, Kenneth I; Maksimova, Irina

Preimplantation Genetic Testing (PGT) to Reduce the Risk for GBA-Related Parkinson's Disease: Expanding the Applications for Embryo Selection

胚胎植入前遗传学检测(PGT)降低GBA相关帕金森病风险:拓展胚胎选择的应用

Zuckerman, Shachar; Zimran, Ari; Szer, Jeff; Revel-Vilk, Shoshana; Altarescu, Gheona

Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth

由一种新型纯合移码变异引起的胞质PEPCK缺乏症,表现为出生时血糖恢复正常和急性肝功能衰竭。

Burg, Daniel; Altarescu, Gheona; Korman, Stanley; Shteyer, Eyal; May, Dalit

Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review

胚胎植入前遗传学检测在多基因疾病中的前景与不足:一篇叙述性综述

Roura-Monllor, Jaime A; Walker, Zachary; Reynolds, Joel M; Rivera-Cruz, Greysha; Hershlag, Avner; Altarescu, Gheona; Klipstein, Sigal; Pereira, Stacey; Lázaro-Muñoz, Gabriel; Carmi, Shai; Lencz, Todd; Lathi, Ruth Bunker

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

全外显子组测序对出生后 1000 天内确诊的 CAKUT 患者的诊断效果和益处

Lina Werfel, Helge Martens, Imke Hennies, Ann Christin Gjerstad, Kerstin Fröde, Gheona Altarescu, Sushmita Banerjee, Irene Valenzuela Palafoll, Robert Geffers, Martin Kirschstein, Anne Christians, Anna Bjerre, Dieter Haffner, Ruthild G Weber

Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism

GCM2 基因中 Tyr 394Ser 变异在患有原发性甲状旁腺功能亢进症的德系犹太人群体中罕见

Tolkin, Lior; Klein, Vanessa; Frankel, Meir; Altarescu, Gheona; Beeri, Rachel; Munter, Gabriel

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

1型强直性肌营养不良患者精子细胞中DMPK高甲基化

Yanovsky-Dagan, Shira; Cohen, Eliora; Megalli, Pauline; Altarescu, Gheona; Schonberger, Oshrat; Eldar-Geva, Talia; Epsztejn-Litman, Silvina; Eiges, Rachel

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

利用纳米孔测序技术检测法布里病相关GLA基因中的单核苷酸变异和拷贝数变异

Nowak, Albina; Murik, Omer; Mann, Tzvia; Zeevi, David A; Altarescu, Gheona

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease

罕见遗传病家族基因检测的益处与挑战——以法布里病为例

Germain, Dominique P; Moiseev, Sergey; Suárez-Obando, Fernando; Al Ismaili, Faisal; Al Khawaja, Huda; Altarescu, Gheona; Barreto, Fellype C; Haddoum, Farid; Hadipour, Fatemeh; Maksimova, Irina; Kramis, Mirelle; Nampoothiri, Sheela; Nguyen, Khanh Ngoc; Niu, Dau-Ming; Politei, Juan; Ro, Long-Sun; Vu Chi, Dung; Chen, Nan; Kutsev, Sergey