Zoghi S - Search Results

1

A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.

Habib A, Shojazadeh A, Molayemat M, Jafari Khamirani H, Zoghi S, Dastgheib SA, Habib A. Habib A, et al. Among authors: zoghi s. Hum Genome Var. 2021 Jul 21;8(1):31. doi: 10.1038/s41439-021-00160-y. Hum Genome Var. 2021. PMID: 34290232 Free PMC article.

2

Outcomes of the early endoscopic-assisted suturectomy for treatment of multisuture craniosynostosis.

Yousefi O, Taheri R, Sabahi M, Reynolds RA, Farrokhi A, Zoghi S, Jamshidi A, Hoghoughi MA, Iqbal MO, Jallo GI, Masoudi MS. Yousefi O, et al. Among authors: zoghi s. Neurosurg Rev. 2023 Nov 1;46(1):289. doi: 10.1007/s10143-023-02191-1. Neurosurg Rev. 2023. PMID: 37907807

3

Phenotype of ST3GAL3 deficient patients: A case and review of the literature.

Khamirani HJ, Zoghi S, Faghihi F, Dastgheib SA, Hassanipour H, Bagher Tabei SM, Mohammadi S, Masoudi M, Poorang S, Ehsani E, Dianatpour M. Khamirani HJ, et al. Among authors: zoghi s. Eur J Med Genet. 2021 Aug;64(8):104250. doi: 10.1016/j.ejmg.2021.104250. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34022416 Review.

4

A novel PTRH2 missense mutation causing IMNEPD: a case report.

Khamirani HJ, Zoghi S, Dianatpour M, Jankhah A, Tabei SS, Mohammadi S, Dastgheib SA. Khamirani HJ, et al. Among authors: zoghi s. Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9. Hum Genome Var. 2021. PMID: 34112751 Free PMC article.

5

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

Manoochehri J, Dastgheib SA, Khamirani HJ, Mollaie M, Sharifi Z, Zoghi S, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dianatpour M. Manoochehri J, et al. Among authors: zoghi s. Hum Genome Var. 2021 Aug 12;8(1):33. doi: 10.1038/s41439-021-00164-8. Hum Genome Var. 2021. PMID: 34385424 Free PMC article.

6

A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature.

Zoghi S, Khamirani HJ, Hassanipour H, Bostanian P, Masoudian R, Dastgheib SA. Zoghi S, et al. Eur J Med Genet. 2021 Dec;64(12):104348. doi: 10.1016/j.ejmg.2021.104348. Epub 2021 Oct 1. Eur J Med Genet. 2021. PMID: 34606976 Review.

7

Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS.

Jafari Khamirani H, Zoghi S, Saber Sichani A, Dianatpour M, Mohammadi S, Mohammad Bagher Tabei S, Alireza Dastgheib S. Jafari Khamirani H, et al. Among authors: zoghi s. J Genet. 2021;100:68. J Genet. 2021. PMID: 34608870 Free article.

8

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.

Alavi O, Khamirani HJ, Zoghi S, Feili A, Dastgheib SA, Tabei SMB, Manoochehri J, Panahandeh SM, Kamali M, Dianatpour M. Alavi O, et al. Among authors: zoghi s. Hum Genome Var. 2021 Oct 26;8(1):39. doi: 10.1038/s41439-021-00171-9. Hum Genome Var. 2021. PMID: 34702808 Free PMC article.

9

Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.

Khamirani HJ, Zoghi S, Namdar ZM, Kamal N, Dianatpour M, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dastgheib SA. Khamirani HJ, et al. Among authors: zoghi s. Ann Hum Genet. 2022 Jan;86(1):52-62. doi: 10.1111/ahg.12448. Epub 2021 Nov 3. Ann Hum Genet. 2022. PMID: 34729769 Review.

10

Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.

Manoochehri J, Dastgheib SA, Khamirani HJ, Mollaie M, Sharifi Z, Zoghi S, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dianatpour M. Manoochehri J, et al. Among authors: zoghi s. Hum Genome Var. 2021 Nov 22;8(1):42. doi: 10.1038/s41439-021-00174-6. Hum Genome Var. 2021. PMID: 34811348 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

96 results

Search Page