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41 results for Kalayinia,+Samira

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Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy
Author / Creator:Masoumi, Tannaz ; Hesami, Hamed ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2025-04, Vol.18 (1), p.82-7, Article 82
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Primary diagnosis of atrioventricular pseudo-block in a neonate with definitive diagnosis of long QT syndrome: diagnostic considerations and therapeutic approaches
Author / Creator:Khorgami, Mohammadrafie ; Naderi, Fatemeh ; Kalayinia, Samira
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:International journal of emergency medicine, 2025-02, Vol.18 (1), p.22-9
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Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
Author / Creator:Ghasemi, Serwa ; Mahdavi, Mohammad ; Maleki, Majid ; Salahshourifar, Iman ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-12, Vol.16 (1), p.334-9, Article 334
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Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Author / Creator:Pourirahim, Maryam ; Houshmand, Golnaz ; Abdolkarimi, Leyla ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2024-04, Vol.24 (1), p.220-6, Article 220
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A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing
Author / Creator:Ghasemi, Serwa ; Mahdavi, Mohammad ; Maleki, Majid ; Salahshourifar, Iman ; Kalayinia, Samira
Publisher:London: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-11, Vol.15 (1), p.1-8, Article 234
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Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
Author / Creator:Jolfayi, Amir Ghaffari ; Kohansal, Erfan ; Ghasemi, Serwa ; Naderi, Niloofar ; Hesami, Mahshid ; MozafaryBazargany, MohammadHossein ; Moghadam, Maryam Hosseini ; Fazelifar, Amir Farjam ; Maleki, Majid ; Kalayinia, Samira
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-03, Vol.14 (1), p.5313-37, Article 5313
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Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
Author / Creator:Heshmatzad, Katayoun ; Naderi, Niloofar ; Masoumi, Tannaz ; Pouraliakbar, Hamidreza ; Kalayinia, Samira
Publisher:London: BioMed Central Ltd
Journal title:European journal of medical research, 2022-09, Vol.27 (1), p.1-23, Article 174
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A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1
Author / Creator:Kalayinia, Samira ; Dalili, Mohammad ; Pourirahim, Maryam ; Maleki, Majid ; Mahdieh, Nejat
Publisher:England: BioMed Central Ltd
Journal title:European journal of medical research, 2023-01, Vol.28 (1), p.23-6, Article 23
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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
Author / Creator:Kohansal, Erfan ; Naderi, Niloofar ; Fazelifar, Amir Farjam ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2024-05, Vol.17 (1), p.126-6, Article 126
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Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs8, in a family with sudden cardiac death
Author / Creator:Azimi, Amir ; Pourirahim, Maryam ; Houshmand, Golnaz ; Adimi, Sara ; Maleki, Majid ; Kalayinia, Samira
Publisher:London: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-10, Vol.16 (1), p.1-10, Article 266
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A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
Author / Creator:Tabib, Avisa ; Talebi, Taravat ; Ghasemi, Serwa ; Pourirahim, Maryam ; Naderi, Niloofar ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:European journal of medical research, 2022-12, Vol.27 (1), p.286-16, Article 286
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A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Author / Creator:Hesami, Hamed ; Ghasemi, Serwa ; Houshmand, Golnaz ; Nilipour, Yalda ; Hesami, Mahshid ; Biglari, Alireza ; Nafissi, Shahriar ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC musculoskeletal disorders, 2024-03, Vol.25 (1), p.241-11, Article 241
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Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation
Author / Creator:Sabahizadeh, Amirreza ; Askarinejad, Amir ; AliAkbar, Saranaz Seyed ; Soveizi, Mahdieh ; Houshmand, Golnaz ; Mortezaeian, Hojjat ; Elahifar, Amin ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2025-03, Vol.18 (1), p.42-7, Article 42
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Development of a patients’ satisfaction analysis system using machine learning and lexicon-based methods
Author / Creator:Khaleghparast, Shiva ; Maleki, Majid ; Hajianfar, Ghasem ; Soumari, Esmaeil ; Oveisi, Mehrdad ; Golandouz, Hassan Maleki ; Noohi, Feridoun ; dehaki, Maziar Gholampour ; Golpira, Reza ; Mazloomzadeh, Saeideh ; Arabian, Maedeh ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC health services research, 2023-03, Vol.23 (1), p.280-12, Article 280
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A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
Author / Creator:Naderi, Niloofar ; Mohsen-Pour, Neda ; Nilipour, Yalda ; Pourirahim, Maryam ; Maleki, Majid ; Kalayinia, Samira
Publisher:London: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2023-10, Vol.23 (1), p.1-8, Article 487
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Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy
Author / Creator:Kalayinia, Samira ; Mahdavi, Mohammad ; Houshmand, Golnaz ; Hesami, Mahshid ; Pourirahim, Maryam ; Maleki, Majid
Publisher:London: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2022-08, Vol.22 (1), p.1-8, Article 359
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Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features
Author / Creator:Mehdizadeh, Kasra ; Soveizi, Mahdieh ; Askarinejad, Amir ; Elahifar, Amin ; Masoumi, Tannaz ; Fazelifar, Amir Farjam ; Asadian, Sanaz ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2024-08, Vol.24 (1), p.442-8, Article 442
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A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Author / Creator:Jolfayi, Amir Ghaffari ; Naderi, Niloofar ; Ghasemi, Serwa ; Salmanipour, Alireza ; Adimi, Sara ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2024-01, Vol.24 (1), p.1-11, Article 1
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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing
Author / Creator:Fazelifar, Amir Farjam ; Pourirahim, Maryam ; Masoumi, Tannaz ; Biglari, Alireza ; Maleki, Majid ; Kalayinia, Samira
Publisher:Japan: John Wiley & Sons, Inc
Journal title:Journal of arrhythmia, 2023-06, Vol.39 (3), p.430-453
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An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1
Author / Creator:Kalayinia, Samira ; Talebi, Saeed ; Miryounesi, Mohammad ; Sarkhail, Peymaneh ; Mahdieh, Nejat
Publisher:Egypt: Hindawi
Journal title:International journal of endocrinology, 2021-12, Vol.2021, p.1-5
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Showing 1 to 20 of 41 results

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

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

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Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy

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Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy

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A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing

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

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Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

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A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

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Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs8, in a family with sudden cardiac death

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A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

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A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report

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

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Development of a patients’ satisfaction analysis system using machine learning and lexicon-based methods

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A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

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Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

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Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features

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A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing

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An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

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