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Items: 38

1.

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.

Bazazzadegan N, Vazehan R, Fadaee M, Fattahi Z, Abolhassani A, Parsimehr E, Kalhor Z, Faraji Zonooz M, Ahangari F, Dehdahsi S, Samiee F, Jamali P, Habibi H, Nourizadeh Y, Mahdavi S, Beheshtian M, Kariminejad A, Smith RJ, Najmabadi H.

Iran J Public Health. 2019 Oct;48(10):1910-1915.

2.

Distinct genetic variation and heterogeneity of the Iranian population.

Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, Jalalvand K, Arzhangi S, Mohammadi Z, Khoshbakht S, Najafi F, Nikuei P, Haddadi M, Zohrehvand E, Oladnabi M, Mohammadzadeh A, Jafari MH, Akhtarkhavari T, Gooshki ES, Haghdoost A, Najafipour R, Niestroj LM, Helwing B, Gossmann Y, Toliat MR, Malekzadeh R, Nürnberg P, Kahrizi K, Najmabadi H, Nothnagel M.

PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep.

3.

Iranome: A catalog of genomic variations in the Iranian population.

Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Sellars E, Nezhadi SH, Amini A, Arzhangi S, Jalalvand K, Jamali P, Mohammadi Z, Davarnia B, Nikuei P, Oladnabi M, Mohammadzadeh A, Zohrehvand E, Nejatizadeh A, Shekari M, Bagherzadeh M, Shamsi-Gooshki E, Börno S, Timmermann B, Haghdoost A, Najafipour R, Khorram Khorshid HR, Kahrizi K, Malekzadeh R, Akbari MR, Najmabadi H.

Hum Mutat. 2019 Nov;40(11):1968-1984. doi: 10.1002/humu.23880. Epub 2019 Aug 17.

PMID:
31343797
4.

Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes.

Neishabury M, Mehri M, Fattahi Z, Najmabadi H, Azarkeivan A.

Haematologica. 2020 Jan;105(1):e1-e4. doi: 10.3324/haematol.2019.216069. Epub 2019 May 16. No abstract available.

5.

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J.

Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9.

PMID:
31069901
6.

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, Kamgar M, Zonooz MF, Mahdavi SS, Kalhor Z, Arzhangi S, Abedini SS, Kermani FS, Mojahedi F, Kalscheuer VM, Ropers HH, Kariminejad A, Najmabadi H, Kahrizi K.

Clin Genet. 2019 Jun;95(6):718-725. doi: 10.1111/cge.13549. Epub 2019 May 14.

PMID:
30950035
7.

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Hosseini M, Fattahi Z, Abedini SS, Hu H, Ropers HH, Kalscheuer VM, Najmabadi H, Kahrizi K.

Am J Med Genet A. 2019 Jan;179(1):13-19. doi: 10.1002/ajmg.a.40531. Epub 2018 Dec 14.

PMID:
30549416
8.

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, Oladnabi M, Haddadi M, Celik A, Ropers HH, Najmabadi H, Kahrizi K.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. doi: 10.1002/ajmg.b.32648. Epub 2018 Nov 18.

PMID:
30450701
9.

SZT2 mutation in a boy with intellectual disability, seizures and autistic features.

Kariminejad A, Yazdan H, Rahimian E, Kalhor Z, Fattahi Z, Zonooz MF, Najmabadi H, Ashrafi M.

Eur J Med Genet. 2019 Sep;62(9):103556. doi: 10.1016/j.ejmg.2018.10.008. Epub 2018 Oct 22.

PMID:
30359774
10.

Effect of inbreeding on intellectual disability revisited by trio sequencing.

Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH.

Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19.

PMID:
30315573
11.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H.

Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220.

PMID:
29893856
12.
13.

Genetics of intellectual disability in consanguineous families.

Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H.

Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.

PMID:
29302074
14.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, Najmabadi H, Nafissi S.

Arch Iran Med. 2017 Sep;20(9):617-620. doi: 0172009/AIM.0010.

15.

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H.

Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21.

PMID:
27234031
16.

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium.

Clin Genet. 2017 Jan;91(1):92-99. doi: 10.1111/cge.12793. Epub 2016 May 24.

PMID:
27102954
17.

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.

Neuromuscul Disord. 2016 Apr-May;26(4-5):277-82. doi: 10.1016/j.nmd.2016.02.003. Epub 2016 Feb 15.

PMID:
27020652
18.

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.

J Invest Dermatol. 2016 Jun;136(6):1283-1286. doi: 10.1016/j.jid.2016.02.801. Epub 2016 Mar 9. No abstract available.

19.

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

Akhtarkhavari T, Joghataei MT, Fattahi Z, Akbari MR, Larti F, Najmabadi H, Kahrizi K.

Arch Iran Med. 2015 Oct;18(10):688-97. doi: 0151810/AIM.009.

20.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K.

Arch Iran Med. 2015 Oct;18(10):670-82. doi: 0151810/AIM.007.

21.

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.

Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.

PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.

22.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H.

Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15.

23.

Effect of ondansetron on post-dural puncture headache (PDPH) in parturients undergoing cesarean section: a double-blind randomized placebo-controlled study.

Fattahi Z, Hadavi SM, Sahmeddini MA.

J Anesth. 2015 Oct;29(5):702-7. doi: 10.1007/s00540-015-2000-5. Epub 2015 Mar 27.

PMID:
25812804
24.

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.

25.

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.

26.

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
27.

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
28.

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
29.

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, Ropers HH, Galjart N, Najmabadi H.

Eur J Hum Genet. 2015 Mar;23(3):331-6. doi: 10.1038/ejhg.2014.13. Epub 2014 Feb 26. Erratum in: Eur J Hum Genet. 2015 Mar;23(3):416.

30.

Prevalence of ACTN3 (the athlete gene) R577X polymorphism in Iranian population.

Fattahi Z, Najmabadi H.

Iran Red Crescent Med J. 2012 Oct;14(10):617-22. Epub 2012 Oct 30.

31.

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Babanejad M, Fattahi Z, Bazazzadegan N, Nishimura C, Meyer N, Nikzat N, Sohrabi E, Najmabadi A, Jamali P, Habibi F, Smith RJ, Kahrizi K, Najmabadi H.

Am J Med Genet A. 2012 Oct;158A(10):2485-92. doi: 10.1002/ajmg.a.35572. Epub 2012 Aug 17.

PMID:
22903915
32.

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

Fattahi Z, Shearer AE, Babanejad M, Bazazzadegan N, Almadani SN, Nikzat N, Jalalvand K, Arzhangi S, Esteghamat F, Abtahi R, Azadeh B, Smith RJ, Kahrizi K, Najmabadi H.

Am J Med Genet A. 2012 Aug;158A(8):1857-64. doi: 10.1002/ajmg.a.34411. Epub 2012 Jun 26.

33.

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, Jamali P, Babanejad M, Kashef A, Yazdan H, Sabbagh Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Reyhanifar F, Nouri N, Smith RJ, Kahrizi K, Najmabadi H.

Int J Pediatr Otorhinolaryngol. 2012 Aug;76(8):1164-74. doi: 10.1016/j.ijporl.2012.04.026. Epub 2012 Jun 12.

PMID:
22695344
34.

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H.

Int J Pediatr Otorhinolaryngol. 2012 Feb;76(2):268-71. doi: 10.1016/j.ijporl.2011.11.019. Epub 2011 Dec 14.

PMID:
22172221
35.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.

Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

PMID:
21937992
36.

Did the GJB2 35delG mutation originate in Iran?

Norouzi V, Azizi H, Fattahi Z, Esteghamat F, Bazazzadegan N, Nishimura C, Nikzat N, Jalalvand K, Kahrizi K, Smith RJ, Najmabadi H.

Am J Med Genet A. 2011 Oct;155A(10):2453-8. doi: 10.1002/ajmg.a.34225. Epub 2011 Sep 9.

37.

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ.

Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4.

38.

Role of the cholinergic system in the rat basolateral amygdala on morphine-induced conditioned place preference.

Zarrindast MR, Fattahi Z, Rostami P, Rezayof A.

Pharmacol Biochem Behav. 2005 Sep;82(1):1-10. Epub 2005 Jul 27.

PMID:
16054206

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