Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature

Authors: Naser Gilani, Fatemeh Bitarafan, Mehmet Ozaslan, Sarah Åsheim, Morteza Heidari, Masoud Garshasbi

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

Subject Terms: disease‐associated microglia (DAM), genetic variations, Nasu‐Hakola disease (NHD), neurodegenerative disorders, TREM2, whole‐exome sequencing (WES), Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/f40c1a895e6f4af7b8244fd2bf0d8d5f

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report

Authors: Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi

Source: BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-10 (2023)

Subject Terms: Laron Syndrome (LS), GHR, Whole Exome Sequencing (WES), Iranian population, Case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6823

Access URL: https://doaj.org/article/db3b690ee9a24323b8855126b00ef7cb

Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women

Authors: Fatemeh Bitarafan, Mohammad Reza Hekmat, Mehrnoosh Khodaeian, Ehsan Razmara, Tahereh Ashrafganjoei, Mitra Modares Gilani, Mitra Mohit, Soheila Aminimoghaddam, Fatemeh Cheraghi, Raziyeh Khalesi, Parnian Rajabzadeh, Soheila Sarmadi, Masoud Garshasbi

Source: International Journal of Infectious Diseases, Vol 111, Iss , Pp 295-302 (2021)

Subject Terms: Cervical cancer, Human papillomavirus, Iranian population, Genotype distribution, Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1201971221006287; https://doaj.org/toc/1201-9712

Access URL: https://doaj.org/article/6bbfc53bf01742968e650d946c0a14cf

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Authors: Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)

Subject Terms: cadherin 23, deafness, transmembrane channel‐like 1, whole‐exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/0a7620fe16fd48c2aa338bf09620e88d

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

Authors: Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

Subject Terms: PCR‐RFLP, pontocerebellar hypoplasias, synonymous variant, TSEN54, whole‐exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/3dfd6fc5704a4751acc03a8e0315f8a5

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

Authors: Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

Subject Terms: FBN1, Marfan syndrome, next‐generation sequencing, novel variants, TGFBR2, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/d745eb198f4d48e1bd3298d55047c99d

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

Authors: Ehsan Razmara, Fatemeh Bitarafan, Elika Esmaeilzadeh-Gharehdaghi, Navid Almadani, Masoud Garshasbi

Source: Iranian Journal of Basic Medical Sciences, Vol 21, Iss 3, Pp 333-341 (2018)

Subject Terms: EYA1, Mutation, MYO7A, MYTH4, NSHL, Medicine

File Description: electronic resource

Relation: http://ijbms.mums.ac.ir/article_10205_1c85b7c75233e4ca95a410235e667c9b.pdf; https://doaj.org/toc/2008-3866; https://doaj.org/toc/2008-3874

Access URL: https://doaj.org/article/f389ddc428eb4456902aea33ea5bbf9d

Isolated Congenital Anosmia and CNGA2 Mutation

Authors: M. Reza Sailani, Inlora Jingga, Seyed Hashem MirMazlomi, Fatemeh Bitarafan, Jonathan A. Bernstein, Michael P. Snyder, Masoud Garshasbi

Source: Scientific Reports, Vol 7, Iss 1, Pp 1-5 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/252479d40f074f6aa2129cbca893ef7e

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

Authors: Fatemeh Bitarafan, Masoud Garshasbi

Source: Journal of Research in Medical Sciences, Vol 24, Iss 1, Pp 44-44 (2019)

Subject Terms: autosomal dominant polycystic kidney disease, next-generation sequencing, polycystic kidney disease 1, polycystic kidney disease 2, Medicine

File Description: electronic resource

Relation: http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2019;volume=24;issue=1;spage=44;epage=44;aulast=Bitarafan; https://doaj.org/toc/1735-1995; https://doaj.org/toc/1735-7136

Access URL: https://doaj.org/article/04be49a00f5a4949a76c5d291c77df96