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Items: 1 to 20 of 49

1.

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.

Habibzadeh P, Inaloo S, Silawi M, Dastsooz H, Farazi Fard MA, Sadeghipour F, Faghihi Z, Rezaeian M, Yavarian M, Böhm J, Faghihi MA.

Front Neurol. 2019 Sep 4;10:944. doi: 10.3389/fneur.2019.00944. eCollection 2019.

2.

Association between rs2303861 polymorphism in CD82 gene and non-alcoholic fatty liver disease: a preliminary case-control study.

Habibzadeh P, Honarvar B, Silawi M, Bahramjahan S, Kazemi A, Faghihi MA, Lankarani K.

Croat Med J. 2019 Aug 31;60(4):361-368.

3.

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

Zareifar S, Dastsooz H, Shahriari M, Faghihi MA, Shekarkhar G, Bordbar M, Zekavat OR, Shakibazad N.

BMC Med Genet. 2019 Jul 9;20(1):122. doi: 10.1186/s12881-019-0855-2.

4.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

5.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

6.

An immunocompetent patient with a nonsense mutation in NHEJ1 gene.

Esmaeilzadeh H, Bordbar MR, Hojaji Z, Habibzadeh P, Afshinfar D, Miryounesi M, Fardaei M, Faghihi MA.

BMC Med Genet. 2019 Mar 21;20(1):45. doi: 10.1186/s12881-019-0784-0.

7.

HDAC Inhibitors Induce BDNF Expression and Promote Neurite Outgrowth in Human Neural Progenitor Cells-Derived Neurons.

Bagheri A, Habibzadeh P, Razavipour SF, Volmar CH, Chee NT, Brothers SP, Wahlestedt C, Mowla SJ, Faghihi MA.

Int J Mol Sci. 2019 Mar 5;20(5). pii: E1109. doi: 10.3390/ijms20051109.

8.

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

Saberzadeh J, Miri MR, Dianatpour M, Behzad Behbahani A, Tabei MB, Alipour M, Faghihi MA, Fardaei M.

Iran J Med Sci. 2019 Jan;44(1):65-69.

9.

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

Ziyaee F, Shorafa E, Dastsooz H, Habibzadeh P, Nemati H, Saeed A, Silawi M, Farazi Fard MA, Faghihi MA, Dastgheib SA.

BMC Med Genet. 2019 Jan 14;20(1):13. doi: 10.1186/s12881-018-0743-1.

10.

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

Esmaeilzadeh H, Bordbar MR, Dastsooz H, Silawi M, Fard MAF, Adib A, Kafashan A, Tabatabaei Z, Sadeghipour F, Faghihi MA.

BMC Med Genet. 2018 Jul 20;19(1):123. doi: 10.1186/s12881-018-0647-0.

11.

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.

Maghami F, Tabei SMB, Moravej H, Dastsooz H, Modarresi F, Silawi M, Faghihi MA.

BMC Med Genet. 2018 May 25;19(1):86. doi: 10.1186/s12881-018-0579-8.

12.

Cocaine alters Homer1 natural antisense transcript in the nucleus accumbens.

Sartor GC, Powell SK, Velmeshev D, Lin DY, Magistri M, Wiedner HJ, Malvezzi AM, Andrade NS, Faghihi MA, Wahlestedt C.

Mol Cell Neurosci. 2017 Dec;85:183-189. doi: 10.1016/j.mcn.2017.10.003. Epub 2017 Oct 18.

13.

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.

Taghdiri M, Dastsooz H, Fardaei M, Mohammadi S, Farazi Fard MA, Faghihi MA.

Front Pediatr. 2017 Aug 9;5:169. doi: 10.3389/fped.2017.00169. eCollection 2017.

14.

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Dastsooz H, Nemati H, Fard MAF, Fardaei M, Faghihi MA.

BMC Med Genet. 2017 Aug 18;18(1):87. doi: 10.1186/s12881-017-0439-y.

15.

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

Karimzadeh P, Naderi S, Modarresi F, Dastsooz H, Nemati H, Farokhashtiani T, Shamsian BS, Inaloo S, Faghihi MA.

BMC Med Genet. 2017 Jul 17;18(1):73. doi: 10.1186/s12881-017-0417-4.

16.

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

Bordbar MR, Modarresi F, Farazi Fard MA, Dastsooz H, Shakib Azad N, Faghihi MA.

BMC Med Genet. 2017 May 3;18(1):49. doi: 10.1186/s12881-017-0404-9.

17.

Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice.

Pardo M, Cheng Y, Velmeshev D, Magistri M, Eldar-Finkelman H, Martinez A, Faghihi MA, Jope RS, Beurel E.

JCI Insight. 2017 Mar 23;2(6):e91782. doi: 10.1172/jci.insight.91782.

18.

Ketamine up-regulates a cluster of intronic miRNAs within the serotonin receptor 2C gene by inhibiting glycogen synthase kinase-3.

Grieco SF, Velmeshev D, Magistri M, Eldar-Finkelman H, Faghihi MA, Jope RS, Beurel E.

World J Biol Psychiatry. 2017 Sep;18(6):445-456. doi: 10.1080/15622975.2016.1224927. Epub 2016 Oct 10.

19.

A comparative transcriptomic analysis of astrocytes differentiation from human neural progenitor cells.

Magistri M, Khoury N, Mazza EM, Velmeshev D, Lee JK, Bicciato S, Tsoulfas P, Faghihi MA.

Eur J Neurosci. 2016 Nov;44(10):2858-2870. doi: 10.1111/ejn.13382. Epub 2016 Sep 25.

20.

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.

Hsiao J, Yuan TY, Tsai MS, Lu CY, Lin YC, Lee ML, Lin SW, Chang FC, Liu Pimentel H, Olive C, Coito C, Shen G, Young M, Thorne T, Lawrence M, Magistri M, Faghihi MA, Khorkova O, Wahlestedt C.

EBioMedicine. 2016 Jul;9:257-277. doi: 10.1016/j.ebiom.2016.05.011. Epub 2016 May 13.

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