Najmabadi H - Search Results

1

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

Kariminejad A, Ghaderi-Sohi S, Keshavarz E, Hashemi SA, Parsimehr E, Szenker-Ravi E, Khatoo M, Faraji Zonooz M, Reversade B, Najmabadi H, Hennekam RC. Kariminejad A, et al. Among authors: najmabadi h. Clin Genet. 2020 Jun;97(6):915-919. doi: 10.1111/cge.13730. Epub 2020 Mar 10. Clin Genet. 2020. PMID: 32112393

2

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC. Kariminejad A, et al. Among authors: najmabadi h. J Invest Dermatol. 2014 Sep;134(9):2331-2338. doi: 10.1038/jid.2014.191. Epub 2014 Apr 16. J Invest Dermatol. 2014. PMID: 24739904 Free article.

3

Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience.

Hafezi-Nejad N, Khosravi M, Bayat N, Kariminejad A, Hadavi V, Oberkanins C, Azarkeivan A, Najmabadi H. Hafezi-Nejad N, et al. Among authors: najmabadi h. Hemoglobin. 2014;38(3):153-7. doi: 10.3109/03630269.2014.909365. Hemoglobin. 2014. PMID: 24826790 Clinical Trial.

4

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Fattahi Z, Rostami P, Najmabadi A, Mohseni M, Kahrizi K, Akbari MR, Kariminejad A, Najmabadi H. Fattahi Z, et al. Among authors: najmabadi h, najmabadi a. J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22. J Hum Genet. 2014. PMID: 24849935

5

Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.

Loghmani Khouzani H, Kariminejad A, Zamani G, Ghalandary M, Bozorgmehr B, Amirsalari S, Mojahedi F, Tonekaboni SH, Kariminejad R, Najmabadi H. Loghmani Khouzani H, et al. Among authors: najmabadi h. Arch Iran Med. 2014 Jul;17(7):471-4. Arch Iran Med. 2014. PMID: 24979557

6

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H. Fattahi Z, et al. Among authors: najmabadi h. Arch Iran Med. 2015 Jan;18(1):60-4. Arch Iran Med. 2015. PMID: 25556389

7

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.

Rostami P, Valizadegan S, Ghalandary M, Mehrjouy MM, Esmail-Nia G, Khalili S, Shahmoradi SS, Imanian H, Hadavi V, Ghaderi-Sohi S, Almadani N, Afroozan F, Kariminejad A, Kariminejad R, Najmabadi H. Rostami P, et al. Among authors: najmabadi h. Arch Iran Med. 2015 May;18(5):296-303. Arch Iran Med. 2015. PMID: 25959911

8

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

Faraji Zonooz M, Sabbagh-Kermani F, Fattahi Z, Fadaee M, Akbari MR, Amiri R, Vahidnezhad H, Uitto J, Najmabadi H, Kariminejad A. Faraji Zonooz M, et al. Among authors: najmabadi h. J Invest Dermatol. 2016 Jun;136(6):1283-1286. doi: 10.1016/j.jid.2016.02.801. Epub 2016 Mar 9. J Invest Dermatol. 2016. PMID: 26968259 Free article. No abstract available.

9

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

Mohseni M, Razzaghmanesh M, Parsi Mehr E, Zare H, Beheshtian M, Najmabadi H. Mohseni M, et al. Among authors: najmabadi h. Iran Biomed J. 2016 Sep;20(4):201-6. doi: 10.7508/ibj.2016.04.003. Epub 2016 Mar 27. Iran Biomed J. 2016. PMID: 27017198 Free PMC article.

10

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H. Fadaee M, et al. Among authors: najmabadi h. Neuromuscul Disord. 2016 Apr-May;26(4-5):277-82. doi: 10.1016/j.nmd.2016.02.003. Epub 2016 Feb 15. Neuromuscul Disord. 2016. PMID: 27020652

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