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41 results for Kalayinia,+Samira

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Select record 21
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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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Select record 30
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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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Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family
Author / Creator:Malakootian, Mahshid ; Bagheri Moghaddam, Mahrokh ; Kalayinia, Samira ; Farrashi, Melody ; Maleki, Majid ; Sadeghipour, Parham ; Amin, Ahmad
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-05, Vol.15 (1), p.106-9, Article 106
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Select record 32
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Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation
Author / Creator:Malakootian, Mahshid ; Jalilian, Masoumeh ; Kalayinia, Samira ; Hosseini Moghadam, Maryam ; Heidarali, Mona ; Haghjoo, Majid
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2022-02, Vol.22 (1), p.37-9, Article 37
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Select record 33
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Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death
Author / Creator:Azimi, Amir ; Soveizi, Mahdieh ; Salmanipour, Alireza ; Mozafarybazargany, Mohammadhossein ; Ghaffari Jolfayi, Amir ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: John Wiley & Sons, Inc
Journal title:ESC Heart Failure, 2024-10, Vol.11 (5), p.3180-3190
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Select record 34
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A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness
Author / Creator:MozafaryBazargany, MohammadHossein ; Esmaeili, Shiva ; Hesami, Mahshid ; Houshmand, Golnaz ; Mahdavi, Mohamad ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: John Wiley & Sons, Inc
Journal title:ESC Heart Failure, 2024-06, Vol.11 (3), p.1472-1482
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Select record 35
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Is There Any Association Between the MEF2A Gene Changes and Coronary Artery Disease?
Author / Creator:Omidi, Soodeh ; Ghasemi, Serwa ; Kalayinia, Samira
Publisher:Tehran: Tehran University of Medical Sciences
Journal title:Acta medica Iranica, 2020, Vol.58 (8), p.366
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A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease
Author / Creator:Kalayinia, Samira ; Ghasemi, Serwa ; Mahdieh, Nejat
Publisher:Iran: Tabriz University of Medical Sciences
Journal title:Journal of cardiovascular and thoracic research, 2019-01, Vol.11 (4), p.287-299
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Select record 37
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In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease
Author / Creator:Abbasi, Shiva ; Mohsen-Pour, Neda ; Naderi, Niloofar ; Rahimi, Shahin ; Maleki, Majid ; Kalayinia, Samira
Publisher:Iran: Tabriz University of Medical Sciences
Journal title:Journal of cardiovascular and thoracic research, 2021-12, Vol.13 (4), p.336-354
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Select record 38
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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
Author / Creator:Kalayinia, Samira ; Hesami, Hamed ; Badv, Reza Shervin ; Rabbani, Maryam ; Rezaei, Zahra ; Hosseinkhani, Zohreh ; Nikbakht, Sedighe ; Sharifi, Ameneh ; Akbari, Bahman ; Mirab Samiee, Siamak ; Mahdieh, Nejat
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-02, Vol.13 (2), p.e70081-n/a
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Select record 39
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Polymorphism of rs599839 in the PSRC1 gene is associated with coronary artery disease in an Iranian population
Author / Creator:Houshmand, Golnaz ; Alemzadeh-Ansari, Mohammad Javad ; Mazloumzadeh, Saeideh ; Naderi, Niloofar ; Pourirahim, Maryam ; Heshmatzad, Katayoun ; Maleki, Majid ; Kalayinia, Samira
Publisher:Tabriz: Tabriz University of Medical Sciences
Journal title:Journal of cardiovascular and thoracic research, 2023-09, Vol.15 (3), p.168-173
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Select record 40
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Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19
Author / Creator:Talebi, Taravat ; Masoumi, Tannaz ; Heshmatzad, Katayoun ; Hesami, Mahshid ; Maleki, Majid ; Kalayinia, Samira
Publisher:England: Hindawi
Journal title:Genetics Research, 2023, Vol.2023, p.1-18
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Showing 21 to 40 of 41 results

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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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Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

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Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

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

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

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Is There Any Association Between the MEF2A Gene Changes and Coronary Artery Disease?

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A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease

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In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease

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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

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Polymorphism of rs599839 in the PSRC1 gene is associated with coronary artery disease in an Iranian population

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Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19

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