Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene

Authors: Zahra Tabatabaei, Khadijeh Karbalaie, Parham Habibzadeh, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Mohammad-Hossein Nasr Esfahani

Source: Cell Journal, Vol 23, Iss 5, Pp 593-597 (2021)

Subject Terms: congenital disorders of glycosylation, genetic testing, in vitro fertilization, next generation sequencing, Medicine, Science

File Description: electronic resource

Relation: https://celljournal.org/journal/article/fulltext/pre-implantation-genetic-diagnosis-in-a-family-with-a-novel-mutation-in-dpagt1-gene.pdf; https://doaj.org/toc/2228-5806; https://doaj.org/toc/2228-5814

Access URL: https://doaj.org/article/f4fa053ad3eb45bf958f756920e6e919

Genomic prediction for growth using a low-density SNP panel in dromedary camels

Authors: Morteza Bitaraf Sani, Javad Zare Harofte, Mohammad Hossein Banabazi, Saeid Esmaeilkhanian, Ali Shafei Naderi, Nader Salim, Abbas Teimoori, Ahmad Bitaraf, Mohammad Zadehrahmani, Pamela Anna Burger, Vincenzo Landi, Mohammad Silawi, Afsaneh Taghipour Sheshdeh, Mohammad Ali Faghihi

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

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

Access URL: https://doaj.org/article/ed43fc635fa14977ba830e7f57fb8282

Cytokine Gene Expression Alterations In Human Macrophages Infected By Leishmania Major

Authors: Khodaberdi Kalavi, Ogholniaz Jorjani, Mohammad Ali Faghihi, Seyed Javad Mowla

Source: Cell Journal, Vol 22, Iss 4, Pp 476-481 (2021)

Subject Terms: chemokines, cytokines, leishmania major, macrophages, rna sequencing, Medicine, Science

File Description: electronic resource

Relation: https://celljournal.org/journal/article/fulltext/cytokine-gene-expression-changes-in-leishmania-major-infected-human-macrophages.pdf; https://doaj.org/toc/2228-5806; https://doaj.org/toc/2228-5814

Access URL: https://doaj.org/article/64004e4151104d6282b7139333a8d4ed

Generalized exfoliative skin rash as an early predictor of supratherapeutic voriconazole trough levels in a leukemic child: A case report

Authors: Ali Amanati, Parisa Badiee, Mehrzad Lotfi, Ahmad Monabati, Mohammad Ali Faghihi, Majid Yavarian, Nazafarin Hatami-Mazinani

Source: Current Medical Mycology, Vol 6, Iss 3, Pp 73-78 (2020)

Subject Terms: acute lymphoblastic leukemia, skin rash, therapeutic drug monitoring, voriconazole, Internal medicine, RC31-1245, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://cmm.mazums.ac.ir/article_118459_ccf9902e172c192129471b4c4497e311.pdf; https://doaj.org/toc/2423-3439; https://doaj.org/toc/2423-3420

Access URL: https://doaj.org/article/97adbbd76b7245cea00450e1dfb4ca62

Molecular mechanisms of long non-coding RNAs in anaplastic thyroid cancer: a systematic review

Authors: Hilda Samimi, Sayed Mahmoud Sajjadi-Jazi, Soroush Seifirad, Rasha Atlasi, Habibollah Mahmoodzadeh, Mohammad Ali Faghihi, Vahid Haghpanah

Source: Cancer Cell International, Vol 20, Iss 1, Pp 1-15 (2020)

Subject Terms: Long non-coding RNA, Anaplastic thyroid cancer, Cancer stem cell, Systematic review, Tumor suppressor, Oncogene, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12935-020-01439-w; https://doaj.org/toc/1475-2867

Access URL: https://doaj.org/article/de30061c18b94c26bb23565bfcc7da93

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report

Authors: Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh, Majid Yavarian

Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

Subject Terms: Dihidropyrimidnase deficiency (DHP deficiency), DPYS, Novel stop gain mutation, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01070-6; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/869381773d4e409f843b18e28ac102ba

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

Authors: Parham Habibzadeh, Mohammad Silawi, Hassan Dastsooz, Shima Bahramjahan, Shahrokh Ezzatzadegan Jahromi, Vahid Reza Ostovan, Majid Yavarian, Mohammad Mofatteh, Mohammad Ali Faghihi

Source: BMC Gastroenterology, Vol 20, Iss 1, Pp 1-7 (2020)

Subject Terms: Mitochondrial diseases, Mitochondrial neurogastrointestinal encephalomyopathy syndrome, TYMP, Codon, nonsense, Diseases of the digestive system. Gastroenterology, RC799-869

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12876-020-01280-5; https://doaj.org/toc/1471-230X

Access URL: https://doaj.org/article/1ad67086578c4d8dbcb568d201b04d92

Viral metagenomic analysis of fecal samples reveals an enteric virome signature in irritable bowel syndrome

Authors: Mina Hojat Ansari, Mehregan Ebrahimi, Mohammad Reza Fattahi, Michael G. Gardner, Ali Reza Safarpour, Mohammad Ali Faghihi, Kamran Bagheri Lankarani

Source: BMC Microbiology, Vol 20, Iss 1, Pp 1-12 (2020)

Subject Terms: Irritable bowel syndrome, Microbiota, Enteric virome, Metagenomics analysis, Bacteriophages, Eukaryotic viruses, Microbiology, QR1-502

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12866-020-01817-4; https://doaj.org/toc/1471-2180

Access URL: https://doaj.org/article/bb2c15a6d9e848819d39928a253de829

Transcriptome Analysis May Be Beneficial for Identification of Specific Pathways in Host Cell-Leishmania major Interactions(letter to editor)

Authors: Khodaberdi Kalavi, Mohammad Ali Faghihi, Ogholniaz Jorjani, Zolikha Tatari

Source: Medical Laboratory Journal, Vol 16, Iss 5, Pp 1-2 (2022)

Subject Terms: leishmania major, gene expression, sequence analysis, rna, Medicine

File Description: electronic resource

Relation: http://mlj.goums.ac.ir/article-1-1337-en.html; https://doaj.org/toc/2538-4449

Access URL: https://doaj.org/article/7f8b8b0c83414fffbdd0e868efe5c1f9

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

Authors: Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi

Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

Subject Terms: Organic acidemia, Methylmalonic acidemia, Preimplantation diagnosis, Mutation, missense, Metabolic diseases, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/72cdef3074834db390b6ee2b682e9454

AICAR and nicotinamide treatment synergistically augment the proliferation and attenuate senescence-associated changes in mesenchymal stromal cells

Authors: Mohammadhossein Khorraminejad-Shirazi, Mahsa Sani, Tahereh Talaei-Khozani, Mohammadreza Dorvash, Malihe Mirzaei, Mohammad Ali Faghihi, Ahmad Monabati, Armin Attar

Source: Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-17 (2020)

Subject Terms: mTOR, AMPK, SIRT1, Autophagy, Senescence, AICAR, Medicine (General), R5-920, Biochemistry, QD415-436

File Description: electronic resource

Relation: https://doaj.org/toc/1757-6512

Access URL: https://doaj.org/article/cd52123ebd2e42dea142f3bf581ce77d

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

Authors: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

Subject Terms: Mitochondrial DNA depletion syndrome, DGUOK, MPV17, Mitochondrial disorders, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0893-9; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/ffc947feed9d4b5c9997e3d8b6e788b9

A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report

Authors: Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat, Nader Shakibazad

Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

Subject Terms: FANCF, Novel mutation, NGS, Autosomal recessive Fanconi Anemia, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0855-2; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/f2f41e11bd784c0582bb06bdaf339fe1

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran

Authors: Marzieh Nejabat, Soroor Inaloo, Afsaneh Taghipour Sheshdeh, Shima Bahramjahan, Fatima Masoomi Sarvestani, Pegah Katibeh, Hamid Nemati, Seyed Mohammad Bagher Tabei, Mohammad Ali Faghihi

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: atypical cerebral palsy, next-generation sequencing, motor disabilities, neuroimaging, developing brain, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.734946/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/d642fe52100f4cef83844b35c8196a98

A novel knockout mouse model of the noncoding antisense Brain-Derived Neurotrophic Factor (Bdnf) gene displays increased endogenous Bdnf protein and improved memory function following exercise

Authors: Farzaneh Modarresi, Roya Pedram Fatemi, Seyedeh Fatemeh Razavipour, Natalie Ricciardi, Madina Makhmutova, Nathalie Khoury, Marco Magistri, Claude-Henry Volmar, Claes Wahlestedt, Mohammad Ali Faghihi

Source: Heliyon, Vol 7, Iss 7, Pp e07570- (2021)

Subject Terms: Knockout mouse, BDNF, Exercise, Learning, Memory, Antisense RNA, Science (General), Q1-390, Social sciences (General), H1-99

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S240584402101673X; https://doaj.org/toc/2405-8440

Access URL: https://doaj.org/article/2940c484896644fbba4e81f84312084d

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Authors: Parham Habibzadeh, Zahra Tabatabaei, Soroor Inaloo, Muhammad Mahdi Nashatizadeh, Matthis Synofzik, Vahid Reza Ostovan, Mohammad Ali Faghihi

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: ARSACS, rigidity, hypokinesia, spastic ataxia, early-onset ataxia, recessive ataxia, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.585136/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/887e7a48fec4409194598361a503174c

An immunocompetent patient with a nonsense mutation in NHEJ1 gene

Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi

Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)

Subject Terms: Severe combined immunodeficiency, Nonhomologous end-joining factor 1, human, Autoimmune hemolytic Anemia, Genetic disorders, Immunologic deficiency syndromes, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0784-0; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/5eed02ffe27f4213a5c4939bba4e91f5

The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report

Authors: Jamileh Saberzadeh, Mohammad Reza Miri, Mehdi Dianatpour, Abbas Behzad Behbahani, Mohammad Bagher Tabei, Mohsen Alipour, Mohammad Ali Faghihi, Majid Fardaei

Source: Iranian Journal of Medical Sciences, Vol 44, Iss 1, Pp 65-69 (2019)

Subject Terms: Prenatal diagnosis, Klinefelter syndrome, Multiplex polymerase chain reaction, In situ hybridization, fluorescence, Medicine (General), R5-920

File Description: electronic resource

Relation: http://ijms.sums.ac.ir/article_40617_c8b2ec92854c6811e6fd98189e2b506d.pdf; https://doaj.org/toc/0253-0716; https://doaj.org/toc/1735-3688

Access URL: https://doaj.org/article/f364139bb52e4d6e8846b29bb33479b9

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

Authors: Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

Subject Terms: Novel mutation, SEPN1, Rigid spine muscular dystrophy, Muscular dystrophies, Selenoproteins, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0743-1; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/7593d22789924083853db7eb1e556856

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi

Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

Subject Terms: Wiskott-Aldrich syndrome, Splice site mutation, WAS gene, Chronic colitis, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0647-0; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/b559c3c3cd7a4e53907ec410021086af