Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Marzieh Mojbafan"'
Publikováno v:
Clinical Case Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)
Key Clinical Message This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can a
Externí odkaz:
https://doaj.org/article/d77e2908e9cd4a97aa6559ac09519ecc
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Introduction Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that causes water imbalance. The kidneys play a crucial role in regulating body fluids by controlling water balance through urine excretion. This highlights their es
Externí odkaz:
https://doaj.org/article/4f706e21710943a88e2f0a4e72812e5b
Autor:
Yeganeh Keshvar, Solmaz Sabeghi, Zohreh Sharifi, Kiyana Sadat Fatemi, Panti Fouladi, Shahrzad Younesi Khah, Faezeh Rahiminejad, Atefeh Joudaki, Masoume Amini, Hamideh Bagherian, Marefat Ghaffari Novin, Mansoureh Movahedin, Marzieh Mojbafan, Sirous Zeinali
Publikováno v:
BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy which is usually done on blastomeres biopsied from 8-cell stage embryos obtained from in vitro fertilization method (IVF). Her
Externí odkaz:
https://doaj.org/article/21363afe98e74915b267e691cd93b675
Publikováno v:
Translational Oncology, Vol 28, Iss , Pp 101611- (2023)
Gastric cancer is the fourth leading cause of cancer-related mortality and one of the most commonly diagnosed malignancies worldwide. Gastric adenocarcinoma (GAC) accounts for the majority of gastric cancer cases. Circular RNAs (circRNAs) have been s
Externí odkaz:
https://doaj.org/article/39febb2ebafd46bdb2a762612fb914f8
Publikováno v:
International Journal of Medical Toxicology and Forensic Medicine, Vol 13, Iss 1 (2023)
Background: In forensic medicine, predicting the age of a victim or suspect can be a clue to solving a crime. Epigenetics has recently played a vital role in age prediction in forensic medicine. Cytosine methylation at cytosine and guanine separated
Externí odkaz:
https://doaj.org/article/3c8ec24a94294e6a98601ce93dcd1937
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homo
Externí odkaz:
https://doaj.org/article/15855c35c9744983b44b2afb84a202ca
Autor:
Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS)
Externí odkaz:
https://doaj.org/article/4167086f9e1a40228260b97eab9a27f5
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations wi
Externí odkaz:
https://doaj.org/article/119f24ab6a2a4a8a8056af470b56b80d
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Although it has been about 30 years since the discovery of circular RNAs (circRNAs) in mammalian cells, these subtypes of RNAs’ capabilities have come into focus in recent years. The unique structure and various functional roles of circRNAs in many
Externí odkaz:
https://doaj.org/article/7a875bac7a724a888412d4a4a048cacf
Autor:
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin. Since there are few reports on Ira
Externí odkaz:
https://doaj.org/article/2841dd7f7c8d4fea84813a1340f7526c