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c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
Safarpour Lima B, Ghaedi H, Daftarian N, Ahmadieh H, Jamshidi J, Khorrami M, Noroozi R, Sohrabifar N, Assarzadegan F, Hesami O, Taghavi S, Ahmadifard A, Atakhorrami M, Rahimi-Aliabadi S, Shahmohammadibeni N, Alehabib E, Andarva M, Darvish H, Emamalizadeh B. Safarpour Lima B, et al. Among authors: alehabib e. Eur J Med Genet. 2016 Feb;59(2):65-9. doi: 10.1016/j.ejmg.2016.01.001. Epub 2016 Jan 7. Eur J Med Genet. 2016. PMID: 26773575
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Rahimi-Aliabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, Ghaedi H, Noroozi R, Taghavi S, Ahmadifard A, Alehabib E, Andarva M, Shokraeian P, Atakhorrami M, Darvish H. Rahimi-Aliabadi S, et al. Among authors: alehabib e. Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15. Eye (Lond). 2016. PMID: 27419834 Free PMC article.
A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.
Andarva M, Jamshidi J, Ghaedi H, Daftarian N, Emamalizadeh B, Alehabib E, Taghavi S, Pouriran R, Darvish H. Andarva M, et al. Among authors: alehabib e. Clin Exp Optom. 2018 Mar;101(2):255-259. doi: 10.1111/cxo.12599. Epub 2017 Sep 18. Clin Exp Optom. 2018. PMID: 28922694 Free article.
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy.
Chapi M, Sabbaghi H, Suri F, Alehabib E, Rahimi-Aliabadi S, Jamali F, Jamshidi J, Emamalizadeh B, Darvish H, Mirrahimi M, Ahmadieh H, Daftarian N. Chapi M, et al. Among authors: alehabib e. Ophthalmic Genet. 2019 Jun;40(3):259-266. doi: 10.1080/13816810.2019.1622023. Epub 2019 Jun 19. Ophthalmic Genet. 2019. PMID: 31215831
The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson's disease in Iranian population.
Shahmohammadibeni N, Rahimi-Aliabadi S, Jamshidi J, Emamalizadeh B, Shahmohammadibeni HA, Zare Bidoki A, Akhavan-Niaki H, Eftekhari H, Abdollahi S, Shekari Khaniani M, Shahmohammadibeni M, Fazeli A, Motallebi M, Taghavi S, Ahmadifard A, Shafiei Zarneh AE, Andarva M, Dadkhah T, Khademi E, Alehabib E, Rahimi M, Tafakhori A, Atakhorrami M, Darvish H. Shahmohammadibeni N, et al. Among authors: alehabib e. Neurol Sci. 2016 May;37(5):731-6. doi: 10.1007/s10072-015-2420-x. Epub 2016 Jan 5. Neurol Sci. 2016. PMID: 26732583
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, Emamalizadeh B, Shahidi GA, Ahmadi M, Habibi SAH, Ahmadifard A, Fazeli A, Motallebi M, Petramfar P, Askarpour S, Askarpour S, Shahmohammadibeni HA, Shahmohammadibeni N, Eftekhari H, Shafiei Zarneh AE, Mohammadihosseinabad S, Khorrami M, Najmi S, Chitsaz A, Shokraeian P, Ehsanbakhsh H, Rezaeidian J, Ebrahimi Rad R, Madadi F, Andarva M, Alehabib E, Atakhorrami M, Mortazavi SE, Azimzadeh Z, Bayat M, Besharati AM, Harati-Ghavi MA, Omidvari S, Dehghani-Tafti Z, Mohammadi F, Mohammad Hossein Pour B, Noorollahi Moghaddam H, Esmaili Shandiz E, Habibi A, Taherian-Esfahani Z, Darvish H, Paisán-Ruiz C. Taghavi S, et al. Among authors: alehabib e. Mol Neurobiol. 2018 Apr;55(4):3477-3489. doi: 10.1007/s12035-017-0535-1. Epub 2017 May 13. Mol Neurobiol. 2018. PMID: 28502045 Free PMC article.
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E. Suri F, et al. Among authors: alehabib e. Hum Mol Genet. 2018 Nov 1;27(21):3772-3786. doi: 10.1093/hmg/ddy256. Hum Mol Genet. 2018. PMID: 30007336
32 results