Kalayinia相关文献与解析，生知库 | 链接生命科学的每一步

Sabahizadeh, Amirreza; Askarinejad, Amir; AliAkbar, Saranaz Seyed; Soveizi, Mahdieh; Houshmand, Golnaz; Mortezaeian, Hojjat; Elahifar, Amin; Maleki, Majid; Kalayinia, Samira

FBN1

发表日期：2025

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Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy

探索TNNI3基因中的c.406 C > T变异：限制性心肌病的致病机制

期刊:BMC Medical Genomics

影响因子:2

doi:10.1186/s12920-025-02150-3

Masoumi, Tannaz; Hesami, Hamed; Maleki, Majid; Kalayinia, Samira

Primary diagnosis of atrioventricular pseudo-block in a neonate with definitive diagnosis of long QT syndrome: diagnostic considerations and therapeutic approaches

新生儿确诊长QT间期综合征后出现房室假性传导阻滞的初步诊断：诊断要点和治疗方法

期刊:International Journal of Emergency Medicine

影响因子:2

doi:10.1186/s12245-025-00827-1

Khorgami, Mohammadrafie; Naderi, Fatemeh; Kalayinia, Samira

发表日期：2025

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Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

对ATP8A2基因中新型可能致病变异c.1286_1288delAGA的影响进行重新评估：一项针对伊朗家族的7年随访研究，结合临床、遗传学和ACMG（美国医学遗传学和医学研究生院）的见解

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.70081

Kalayinia, Samira; Hesami, Hamed; Badv, Reza Shervin; Rabbani, Maryam; Rezaei, Zahra; Hosseinkhani, Zohreh; Nikbakht, Sedighe; Sharifi, Ameneh; Akbari, Bahman; Mirab Samiee, Siamak; Mahdieh, Nejat

发表日期：2025

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Beyond the Beat, Next-Generation Sequencing Discovery of Novel RYR2 Gene Variant in Long QT Syndrome

超越节拍：下一代测序发现长QT综合征中新的RYR2基因变异

期刊:Cardiology Research and Practice

影响因子:

doi:10.1155/crp/1928541

Kalayinia, Samira; Jolfayi, Amir Ghaffari; Soheili, Amirali; Maleki, Majid; Dalili, Mohammad; Soveizi, Mahdieh; Komijani, Saba

Unlocking the Secrets of Andersen-Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome

揭开安德森-塔维尔综合征的秘密：下一代测序技术在长QT综合征家族中的作用

期刊:Cardiology Research and Practice

影响因子:

doi:10.1155/crp/9532818

Namazi, Mansoor; Naderi, Niloofar; Askarinejad, Amir; Dalili, Mohammad; Maleki, Majid; Kalayinia, Samira

Sequencing

发表日期：2025

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Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology

拷贝数变异：不明原因严重心血管疾病的潜在遗传关联

期刊:Journal of Cellular and Molecular Medicine

影响因子:4.2

doi:10.1111/jcmm.18483

Zeng, Yuhong; Yuan, Zhiquan; Li, Jun; Yang, Lanqing; Li, Chengying; Xiang, Ying; Wu, Long; Xia, Tingting; Zhong, Li; Li, Yafei; Wu, Na; Naderi, Niloofar; MozafaryBazargany, MohammadHossein; Maleki, Majid; Kalayinia, Samira

Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies

探索 TTN 变异作为心肌病发病机制的遗传学见解以及心肌病分子机制的潜在新线索

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-024-56154-7

Jolfayi, Amir Ghaffari; Kohansal, Erfan; Ghasemi, Serwa; Naderi, Niloofar; Hesami, Mahshid; MozafaryBazargany, MohammadHossein; Moghadam, Maryam Hosseini; Fazelifar, Amir Farjam; Maleki, Majid; Kalayinia, Samira

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death

在一个有猝死家族史的病例中，发现了一种与肥厚型心肌病相关的新型可能致病性TPM1变异体

期刊:Esc Heart Failure

影响因子:3.7

doi:10.1002/ehf2.14906

Azimi, Amir; Soveizi, Mahdieh; Salmanipour, Alireza; Mozafarybazargany, Mohammadhossein; Ghaffari Jolfayi, Amir; Maleki, Majid; Kalayinia, Samira

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness

一种新的可能致病的纯合 RBCK1 变异，在伴有肌肉无力的扩张型心肌病中

期刊:Esc Heart Failure

影响因子:3.2

doi:10.1002/ehf2.14702

MohammadHossein MozafaryBazargany, Shiva Esmaeili, Mahshid Hesami, Golnaz Houshmand, Mohamad Mahdavi, Majid Maleki, Samira Kalayinia

Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation

揭示一种与主动脉根部扩张表现相关的马凡综合征的新型FBN1变异

Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy

探索TNNI3基因中的c.406 C > T变异：限制性心肌病的致病机制

Primary diagnosis of atrioventricular pseudo-block in a neonate with definitive diagnosis of long QT syndrome: diagnostic considerations and therapeutic approaches

新生儿确诊长QT间期综合征后出现房室假性传导阻滞的初步诊断：诊断要点和治疗方法

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

对ATP8A2基因中新型可能致病变异c.1286_1288delAGA的影响进行重新评估：一项针对伊朗家族的7年随访研究，结合临床、遗传学和ACMG（美国医学遗传学和医学研究生院）的见解

Beyond the Beat, Next-Generation Sequencing Discovery of Novel RYR2 Gene Variant in Long QT Syndrome

超越节拍：下一代测序发现长QT综合征中新的RYR2基因变异

Unlocking the Secrets of Andersen-Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome

揭开安德森-塔维尔综合征的秘密：下一代测序技术在长QT综合征家族中的作用

Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology

拷贝数变异：不明原因严重心血管疾病的潜在遗传关联

Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies

探索 TTN 变异作为心肌病发病机制的遗传学见解以及心肌病分子机制的潜在新线索

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death

在一个有猝死家族史的病例中，发现了一种与肥厚型心肌病相关的新型可能致病性TPM1变异体

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness

一种新的可能致病的纯合 RBCK1 变异，在伴有肌肉无力的扩张型心肌病中