Kalayinia S - Search Results

1

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

Mehdizadeh K, Soveizi M, Askarinejad A, Elahifar A, Masoumi T, Fazelifar AF, Asadian S, Maleki M, Kalayinia S. Mehdizadeh K, et al. Among authors: kalayinia s. BMC Cardiovasc Disord. 2024 Aug 23;24(1):442. doi: 10.1186/s12872-024-04126-0. BMC Cardiovasc Disord. 2024. PMID: 39180012 Free PMC article.

2

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

Azimi A, Soveizi M, Salmanipour A, Mozafarybazargany M, Ghaffari Jolfayi A, Maleki M, Kalayinia S. Azimi A, et al. Among authors: kalayinia s. ESC Heart Fail. 2024 Oct;11(5):3180-3190. doi: 10.1002/ehf2.14906. Epub 2024 Jun 14. ESC Heart Fail. 2024. PMID: 38874371 Free PMC article.

3

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

Kohansal E, Naderi N, Fazelifar AF, Maleki M, Kalayinia S. Kohansal E, et al. Among authors: kalayinia s. BMC Med Genomics. 2024 May 7;17(1):126. doi: 10.1186/s12920-024-01900-z. BMC Med Genomics. 2024. PMID: 38715010 Free PMC article.

4

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

Pourirahim M, Houshmand G, Abdolkarimi L, Maleki M, Kalayinia S. Pourirahim M, et al. Among authors: kalayinia s. BMC Cardiovasc Disord. 2024 Apr 23;24(1):220. doi: 10.1186/s12872-024-03878-z. BMC Cardiovasc Disord. 2024. PMID: 38654147 Free PMC article.

5

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

Hesami H, Ghasemi S, Houshmand G, Nilipour Y, Hesami M, Biglari A, Nafissi S, Maleki M, Kalayinia S. Hesami H, et al. Among authors: kalayinia s. BMC Musculoskelet Disord. 2024 Mar 27;25(1):241. doi: 10.1186/s12891-024-07354-9. BMC Musculoskelet Disord. 2024. PMID: 38539162 Free PMC article.

6

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

Jolfayi AG, Kohansal E, Ghasemi S, Naderi N, Hesami M, MozafaryBazargany M, Moghadam MH, Fazelifar AF, Maleki M, Kalayinia S. Jolfayi AG, et al. Among authors: kalayinia s. Sci Rep. 2024 Mar 4;14(1):5313. doi: 10.1038/s41598-024-56154-7. Sci Rep. 2024. PMID: 38438525 Free PMC article. Review.

7

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

MozafaryBazargany M, Esmaeili S, Hesami M, Houshmand G, Mahdavi M, Maleki M, Kalayinia S. MozafaryBazargany M, et al. Among authors: kalayinia s. ESC Heart Fail. 2024 Jun;11(3):1472-1482. doi: 10.1002/ehf2.14702. Epub 2024 Feb 8. ESC Heart Fail. 2024. PMID: 38329383 Free PMC article.

8

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

Jolfayi AG, Naderi N, Ghasemi S, Salmanipour A, Adimi S, Maleki M, Kalayinia S. Jolfayi AG, et al. Among authors: kalayinia s. BMC Cardiovasc Disord. 2024 Jan 2;24(1):1. doi: 10.1186/s12872-023-03676-z. BMC Cardiovasc Disord. 2024. PMID: 38166572 Free PMC article.

9

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.

Ghasemi S, Mahdavi M, Maleki M, Salahshourifar I, Kalayinia S. Ghasemi S, et al. Among authors: kalayinia s. BMC Med Genomics. 2023 Dec 21;16(1):334. doi: 10.1186/s12920-023-01780-9. BMC Med Genomics. 2023. PMID: 38129817 Free PMC article.

10

Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.

Sadeghipour P, Valuian M, Ghasemi S, Rafiee F, Pourirahim M, Mahmoodian M, Maleki M, Kalayinia S. Sadeghipour P, et al. Among authors: kalayinia s. Lab Med. 2024 Jul 3;55(4):447-453. doi: 10.1093/labmed/lmad109. Lab Med. 2024. PMID: 38113391

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