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Results: 1 to 20 of 178

1.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

Oladnabi M, Musante L, Larti F, Hu H, Abedini SS, Wienker T, Ropers HH, Kahrizi K, Najmabadi H.

Arch Iran Med. 2015 Mar;18(3):179-84. doi: 0151803/AIM.008.

PMID:
25773692
Free Article
2.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, D'heedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Mar 11. doi: 10.1038/ejhg.2015.26. [Epub ahead of print]

PMID:
25758992
3.

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems.

Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H.

Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19.

PMID:
25704603
4.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.

Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Hilger Ropers H, Galjart N, Najmabadi H.

Eur J Hum Genet. 2015 Mar;23(3):416. doi: 10.1038/ejhg.2014.152. No abstract available.

PMID:
25672248
5.

Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population.

Babanejad M, Moein H, Akbari MR, Badiei A, Yaseri M, Soheilian M, Najmabadi H.

Ophthalmic Genet. 2015 Jan 23:1-6. [Epub ahead of print]

PMID:
25612476
6.

Evaluation of chromosomal aberrations caused by air pollutants in some taxi drivers from two polluted districts of urban Tehran and its comparison with drivers from rural areas of Lahijan: a pilot study.

Taghizadeh S, Najmabadi H, Kamali K, Behjati F.

J Environ Health Sci Eng. 2014 Dec 19;12(1):144. doi: 10.1186/s40201-014-0144-0. eCollection 2014.

7.

Mutation screening of the Krüppel-like factor 1 gene using single-strand conformational polymorphism in a cohort of Iranian β-thalassemia patients.

Zaker-Kandjani B, Namdar-Aligoodarzi P, Azarkeivan A, Najmabadi H, Banan M.

Hemoglobin. 2015;39(1):24-9. doi: 10.3109/03630269.2014.991023. Epub 2015 Jan 13.

PMID:
25583416
8.

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

Kahrizi K, Bazazzadegan N, Jamali L, Nikzat N, Kashef A, Najmabadi H.

J Genet. 2014 Dec;93(3):837-41. No abstract available.

9.

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.

Arch Iran Med. 2015 Jan;18(1):60-4. doi: 0151801/AIM.0014.

10.

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

Kashef A, Nikzat N, Bazzazadegan N, Fattahi Z, Sabbagh-Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Najmabadi H, Kahrizi K.

Int J Pediatr Otorhinolaryngol. 2015 Feb;79(2):136-8. doi: 10.1016/j.ijporl.2014.11.024. Epub 2014 Dec 3.

PMID:
25555641
11.

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

Zeinali F, Mohseni M, Fadaee M, Fattahi Z, Najmabadi H, Otukesh H, Kahrizi K.

J Laryngol Otol. 2014 Dec;128(12):1056-9. doi: 10.1017/S0022215114002540.

PMID:
25498251
12.

Genetics of non-syndromic hearing loss in the Middle East.

Najmabadi H, Kahrizi K.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2026-36. doi: 10.1016/j.ijporl.2014.08.036. Epub 2014 Sep 4.

PMID:
25281338
13.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.

Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25.

PMID:
25262649
14.

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K.

Int J Pediatr Otorhinolaryngol. 2014 Nov;78(11):1828-32. doi: 10.1016/j.ijporl.2014.08.035. Epub 2014 Sep 1. Review.

PMID:
25239229
15.

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

Hu H, Wienker TF, Musante L, Kalscheuer VM, Kahrizi K, Najmabadi H, Ropers HH.

Hum Mutat. 2014 Dec;35(12):1427-35. doi: 10.1002/humu.22695.

PMID:
25219469
16.

NDST1 missense mutations in autosomal recessive intellectual disability.

Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K.

Am J Med Genet A. 2014 Nov;164A(11):2753-63. doi: 10.1002/ajmg.a.36723. Epub 2014 Aug 14.

PMID:
25125150
17.

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.

Arch Iran Med. 2014 Jul;17(7):471-4. doi: 0141707/AIM.004.

18.

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.

Jamaldini SH, Babanejad M, Mozaffari R, Nikzat N, Jalalvand K, Badiei A, Sanati H, Shakerian F, Afshari M, Kahrizi K, Najmabadi H.

Acta Med Iran. 2014;52(5):352-9.

19.

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.

J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.

PMID:
24849935
20.

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.

Hemoglobin. 2014;38(3):153-7. doi: 10.3109/03630269.2014.909365.

PMID:
24826790
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