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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Isolated Congenital Anosmia and CNGA2 Mutation.
Sailani MR, Jingga I, MirMazlomi SH, Bitarafan F, Bernstein JA, Snyder MP, Garshasbi M. Sailani MR, et al. Sci Rep. 2017 Jun 1;7(1):2667. doi: 10.1038/s41598-017-02947-y. Sci Rep. 2017. PMID: 28572688 Free PMC article.
Heterozygosity mapping for human dominant trait variants.
Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Imai-Okazaki A, et al. Hum Mutat. 2019 Jul;40(7):996-1004. doi: 10.1002/humu.23765. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 31018026 Free PMC article.
Cut-off value of 1-h, 50-g glucose challenge test for screening of gestational diabetes mellitus in an Iranian population.
Gandevani SB, Garshasbi A, Dibaj S. Gandevani SB, et al. J Obstet Gynaecol Res. 2011 Jun;37(6):534-7. doi: 10.1111/j.1447-0756.2010.01400.x. Epub 2011 Mar 6. J Obstet Gynaecol Res. 2011. PMID: 21375670
The test was performed between 24 and 28 weeks of gestation; each subject received a 50-g oral glucose load regardless of her fasting or fed state; the 1-h venous plasma glucose level was then determined. Women exceeding 130 mg/dl received the diagnostic 100-g, 3-h …
The test was performed between 24 and 28 weeks of gestation; each subject received a 50-g oral glucose load regardless of her fasting or fed …
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Rafiq MA, et al. Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Am J Hum Genet. 2011. PMID: 21763484 Free PMC article.
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW. Pak C, et al. Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12390-5. doi: 10.1073/pnas.1107103108. Epub 2011 Jul 6. Proc Natl Acad Sci U S A. 2011. PMID: 21734151 Free PMC article.
New criteria for gestational diabetes in Tehran, Iran.
Behboudi Gandevani S, Garshasbi A, Shahpari Niri S, Naghizade MM. Behboudi Gandevani S, et al. Iran J Reprod Med. 2012 May;10(3):237-42. Iran J Reprod Med. 2012. PMID: 25242999 Free PMC article.
MATERIALS AND METHODS: Prospective study was performed on 617 pregnant women. 1804 subjects referred for 50 g glucose challenge test (GCT) between 24th and 28(th) weeks of gestation. 617 women with abnormal GCT (blood glucose 130 mg/dl) underwent 100-g 3-h oral glucose tol …
MATERIALS AND METHODS: Prospective study was performed on 617 pregnant women. 1804 subjects referred for 50 g glucose challenge test (GCT) b …
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB. Heidari A, et al. Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23. Hum Mol Genet. 2015. PMID: 26206890 Free PMC article.