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

Association of VDR gene polymorphisms with prediabetes and Type 2 diabetes mellitus in a sample of the Iranian population

在伊朗人群样本中,维生素D受体基因多态性与糖尿病前期和2型糖尿病的关联性研究

Salabat, Dorsa; Panahi, Nekoo; Fahimfar, Noushin; Saeedi, Masoud; Radkhah, Hanieh; Keshtkar, Abbasali; Aghaei Meybodi, Hamid Reza; Ostovar, Afshin; Larijani, Bagher; M Amoli, Mahsa

Applications of Danio rerio as a model for studying NAFLD and NASH

斑马鱼作为研究非酒精性脂肪性肝病和非酒精性脂肪性肝炎的模型的应用

Rafizadeh, Melika; Khazaei-Poul, Yalda; Mohammadi, Hassan; Khorramizadeh, Mohammadreza; M Amoli, Mahsa; Larijani, Bagher; Ziai, Seyed Ali

Complete loss of PAX4 causes transient neonatal diabetes in humans.

PAX4 完全缺失会导致人类出现短暂性新生儿糖尿病

Russ-Silsby James, Lee Yunkyeong, Rajesh Varsha, Amoli Mahsa, Mirhosseini Nasser Ali, Godbole Tushar, Johnson Matthew B, Ibarra D Evelyn, Sun Han, Krentz Nicole A J, Wakeling Matthew N, Flanagan Sarah E, Hattersley Andrew T, Gloyn Anna L, De Franco Elisa

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect

FGF23基因中错义变异(c.471C>A)的高发生率与骨肥厚-高磷血症综合征相关,并可能存在创始人效应。

Sedghi, Maryam; Gharehdaghi, Elika Esmaeilzadeh; Ziaee, Vahid; Abbasi, Farzaneh; Meybodi, Hamid Reza Aghaei; Smiley, Elina; Mehdizadeh, Mehrzad; Raeeskarami, Seyyed Reza; Aslani, Nahid; Shiran, Sahar Naderi; Vafadar, Mehdi; Amoli, Mahsa M

Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants

新生儿糖尿病是COXPD-24的一个显著特征,该疾病由隐性NARS2变异引起。

Donis, Russell; Wakeling, Matthew N; Jeffery, Nicola; Govier, Molly; Johnson, Matthew B; Hassan, Samar Sabir; Abdullah, Mohammed Ahmed; Eltonbary, Khadiga Yehia Elsayed; Parvaneh, Nima; Amoli, Mahsa M; Abbasi, Farzaneh; Elmaoğulları, Selin; Çetinkaya, Semra; Gunes, Kubra; Tayfun, Meltem; Yaghootkar, Hanieh; Hattersley, Andrew T; Flanagan, Sarah E; De Franco, Elisa

Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity

全外显子组测序揭示了与单基因肥胖相关的新变异和单倍型。

Gholami, Morteza; Hamidi, Armita Kakavand; Naghshband, Zeinab; Asadi, Mojgan; Amoli, Mahsa M

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders

DYNC1H1 在脊髓性肌萎缩症中的作用:来自两个家族的诊断发现及其在神经肌肉和神经发育障碍中的作用的全面综述

Namdari, Maryam; Ansari, Behnaz; Basiri, Keivan; Azimi, Elham Sadat; Hosseinzadeh, Majid; Bahreini, Amir; Nouri, Narges; Sedghi, Maryam; Fattahpur, Shirin; Amoli, Mahsa M; Tajsharghi, Homa

Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans.

PAX4 完全缺失会导致人类新生儿短暂性糖尿病

Russ-Silsby James, Lee Yunkyeong, Rajesh Varsha, Amoli Mahsa, Mirhosseini Nasser Ali, Godbole Tushar, Johnson Matthew B, Ibarra Dora E, Sun Han, Krentz Nicole A J, Wakeling Matthew N, Flanagan Sarah E, Hattersley Andrew T, Gloyn Anna L, De Franco Elisa

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes

伊朗新生儿糖尿病患者的基因变异谱分析:揭示14个基因中的58种不同变异

Mianesaz, Hamidreza; Ghalamkari, Safoura; Abbasi, Farzaneh; Razzaghy-Azar, Maryam; Sayarifard, Fatemeh; Vakili, Rahim; Sedghi, Maryam; Noroozi Asl, Samaneh; Hosseini, Sousan; Amoli, Mahsa M; Yaghootkar, Hanieh

Neural EGFL like 1 as a novel gene for Trabecular Bone Score in older adults: The Bushehr Elderly Health (BEH) program

神经表皮生长因子受体1样蛋白(Neural EGFL like 1)作为老年人骨小梁评分的新基因:布什尔老年人健康(BEH)计划

Bidkhori, Mohammad; Akbarzadeh, Mahdi; Fahimfar, Noushin; Jahangiri, Mina; Seddiq, Sahar; Larijani, Bagher; Nabipour, Iraj; Mohammad Amoli, Mahsa; Panahi, Nekoo; Dehghan, Abbas; Holakouie-Naieni, Kourosh; Ostovar, Afshin