Dastsooz H - Search Results

1

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH. Ng BG, et al. Among authors: dastsooz h. J Inherit Metab Dis. 2020 Jul;43(4):871-879. doi: 10.1002/jimd.12221. Epub 2020 Feb 23. J Inherit Metab Dis. 2020. PMID: 32049367 Free PMC article.

2

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. Bordbar MR, et al. Among authors: dastsooz h. BMC Med Genet. 2017 May 3;18(1):49. doi: 10.1186/s12881-017-0404-9. BMC Med Genet. 2017. PMID: 28468610 Free PMC article.

3

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. Karimzadeh P, et al. Among authors: dastsooz h. BMC Med Genet. 2017 Jul 17;18(1):73. doi: 10.1186/s12881-017-0417-4. BMC Med Genet. 2017. PMID: 28716012 Free PMC article.

4

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. Dastsooz H, et al. BMC Med Genet. 2017 Aug 18;18(1):87. doi: 10.1186/s12881-017-0439-y. BMC Med Genet. 2017. PMID: 28821231 Free PMC article.

5

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.

Taghdiri M, Dastsooz H, Fardaei M, Mohammadi S, Farazi Fard MA, Faghihi MA. Taghdiri M, et al. Among authors: dastsooz h. Front Pediatr. 2017 Aug 9;5:169. doi: 10.3389/fped.2017.00169. eCollection 2017. Front Pediatr. 2017. PMID: 28848724 Free PMC article.

6

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. Maghami F, et al. Among authors: dastsooz h. BMC Med Genet. 2018 May 25;19(1):86. doi: 10.1186/s12881-018-0579-8. BMC Med Genet. 2018. PMID: 29801479 Free PMC article.

7

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. Esmaeilzadeh H, et al. Among authors: dastsooz h. BMC Med Genet. 2018 Jul 20;19(1):123. doi: 10.1186/s12881-018-0647-0. BMC Med Genet. 2018. PMID: 30029636 Free PMC article.

8

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. Ziyaee F, et al. Among authors: dastsooz h. BMC Med Genet. 2019 Jan 14;20(1):13. doi: 10.1186/s12881-018-0743-1. BMC Med Genet. 2019. PMID: 30642275 Free PMC article.

9

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. Farazi Fard MA, et al. Among authors: dastsooz h. Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929741 Free PMC article.

10

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. Zareifar S, et al. Among authors: dastsooz h. BMC Med Genet. 2019 Jul 9;20(1):122. doi: 10.1186/s12881-019-0855-2. BMC Med Genet. 2019. PMID: 31288759 Free PMC article.

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