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Page 1
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Among authors: hadipour f. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: hadipour f. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K; Undiagnosed Diseases Network; Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. Ghosh SG, et al. Among authors: hadipour f. Eur J Hum Genet. 2021 Feb;29(2):271-279. doi: 10.1038/s41431-020-00717-5. Epub 2020 Sep 8. Eur J Hum Genet. 2021. PMID: 32901138 Free PMC article.
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Farajzadeh Valilou S, Alavi A, Pashaei M, Ghasemi Firouzabadi S, Shafeghati Y, Nozari A, Hadipour F, Hadipour Z, Maghsoodlou Estrabadi B, Gholamreza Noorazar S, Banihashemi S, Karimian J, Fattahi M, Behjati F. Farajzadeh Valilou S, et al. Among authors: hadipour f. Mol Syndromol. 2020 Jun;11(2):62-72. doi: 10.1159/000506530. Epub 2020 Mar 11. Mol Syndromol. 2020. PMID: 32655337 Free PMC article.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Ahmadpour F, Touitou I, Fardaei M, Slim R. Reddy R, et al. Among authors: hadipour f. Eur J Hum Genet. 2016 Oct;24(10):1445-52. doi: 10.1038/ejhg.2016.9. Epub 2016 Mar 9. Eur J Hum Genet. 2016. PMID: 26956250 Free PMC article.
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
Mohammadzadeh A, Akbaroghli S, Aghaei-Moghadam E, Mahdieh N, Badv RS, Jamali P, Kariminejad R, Chavoshzadeh Z, Ghasemi Firouzabadi S, Mansour Ghanaie R, Nozari A, Banihashemi S, Hadipour F, Hadipour Z, Kariminejad A, Najmabadi H, Shafeghati Y, Behjati F. Mohammadzadeh A, et al. Among authors: hadipour f. Cell J. 2019 Oct;21(3):337-349. doi: 10.22074/cellj.2019.6053. Epub 2019 Jun 15. Cell J. 2019. PMID: 31210441 Free PMC article.
Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation.
Behjati F, Ghasemi Firouzabadi S, Sajedi F, Kahrizi K, Najafi M, Ebrahimizade Ghasemlou B, Shafeghati Y, Behnia F, Mohammadi Arya AR, Karimi H, Hadipour F, Hadipour Z, Jamali P, Kariminejad R, Darvish H, Bahman I, Bagherizadeh E, Najmabadi H, Vameghi R. Behjati F, et al. Among authors: hadipour f, hadipour z. Iran Red Crescent Med J. 2013 Oct;15(10):e8221. doi: 10.5812/ircmj.8221. Epub 2013 Oct 5. Iran Red Crescent Med J. 2013. PMID: 24693374 Free PMC article.
15 results