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Items: 1 to 20 of 93

1.

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. 2016 May 28. doi: 10.1111/cge.12810. [Epub ahead of print]

PMID:
27234031
2.

Germline RECQL mutations in high risk Chinese breast cancer patients.

Kwong A, Shin VY, Cheuk IW, Chen J, Au CH, Ho DN, Chan TL, Ma ES, Akbari MR, Narod SA.

Breast Cancer Res Treat. 2016 Jun;157(2):211-5. doi: 10.1007/s10549-016-3784-1. Epub 2016 Apr 28.

PMID:
27125668
3.

Botulinum toxin injection for restrictive myopathy of thyroid-associated orbitopathy: success rate and predictive factors.

Akbari MR, Ameri A, Keshtkar Jaafari AR, Mirmohammadsadeghi A.

J AAPOS. 2016 Apr;20(2):126-130.e1. doi: 10.1016/j.jaapos.2016.01.007.

PMID:
27079592
4.

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

Esmail Nia G, Fadaee M, Royer R, Najmabadi H, Akbari MR.

Arch Iran Med. 2016 Apr;19(4):236-40. doi: 0161904/AIM.003.

5.

Corrigendum: Germline RECQL mutations are associated with breast cancer susceptibility.

Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR.

Nat Genet. 2016 Mar 29;48(4):473. doi: 10.1038/ng0329-473c. No abstract available.

PMID:
27023777
6.

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
7.

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):1283-6. doi: 10.1016/j.jid.2016.02.801. Epub 2016 Mar 9. No abstract available.

PMID:
26968259
8.

Survival in women with ovarian cancer with and without microsatellite instability.

Segev Y, Zhang S, Akbari MR, Sun P, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA, Pal T.

Eur J Gynaecol Oncol. 2015;36(6):681-4.

PMID:
26775351
9.

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.

Arch Iran Med. 2015 Nov;18(11):776-85. doi: 0151811/AIM.009.

10.

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.

11.

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

Mehrjoo Z, Akbari MR, Abedini SS, Vaziri S, Kahrizi K, Najmabadi H.

Arch Iran Med. 2015 Oct;18(10):643-69. doi: 0151810/AIM.006.

12.

RECQL: a DNA helicase in breast cancer.

Akbari MR, Cybulski C.

Oncotarget. 2015 Sep 29;6(29):26558-9. doi: 10.18632/oncotarget.5452. No abstract available.

13.

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Pal T, Bonner D, Cragun D, Monteiro AN, Phelan C, Servais L, Kim J, Narod SA, Akbari MR, Vadaparampil ST.

Cancer. 2015 Dec 1;121(23):4173-80. doi: 10.1002/cncr.29645. Epub 2015 Aug 19.

PMID:
26287763
14.

Photo neutron dose equivalent rate in 15 MV X-ray beam from a Siemens Primus Linac.

Ghasemi A, Pourfallah TA, Akbari MR, Babapour H, Shahidi M.

J Med Phys. 2015 Apr-Jun;40(2):90-4. doi: 10.4103/0971-6203.158681.

15.

Development of a Persian Version of the Adult Strabismus Questionnaire and Evaluating the Effect of Strabismus Surgery on Health-Related Quality of Life.

Akbari MR, Masoomian B, Ameri A, Keshtkar Jaafari A, Mirmohammadsadeghi A.

Strabismus. 2015;23(2):66-72. doi: 10.3109/09273972.2015.1025986.

PMID:
26158472
16.

Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Jakubowska A, Szwiec M, Byrski T, Dębniak T, Górski B, Sopik V, Akbari MR, Sun P, Gronwald J, Narod SA, Lubiński J; Polish Hereditary Breast Cancer Consortium.

Lancet Oncol. 2015 Jun;16(6):638-44. doi: 10.1016/S1470-2045(15)70142-7. Epub 2015 May 7.

PMID:
25959805
17.

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL, Akbari MR, Mes-Masson AM, Provencher D, Foulkes WD, Narod SA, Tonin PN.

BMC Med Genet. 2015 Apr 12;16:24. doi: 10.1186/s12881-015-0169-y.

18.

Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.

Trottier M, Lunn J, Butler R, Curling D, Turnquest T, Francis W, Halliday D, Royer R, Zhang S, Li S, Thompson I, Donenberg T, Hurley J, Akbari MR, Narod SA.

Clin Genet. 2016 Mar;89(3):328-31. doi: 10.1111/cge.12602. Epub 2015 May 31.

PMID:
25920394
19.

Germline RECQL mutations are associated with breast cancer susceptibility.

Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR.

Nat Genet. 2015 Jun;47(6):643-6. doi: 10.1038/ng.3284. Epub 2015 Apr 27.

PMID:
25915596
20.

Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer.

Cragun D, Bonner D, Kim J, Akbari MR, Narod SA, Gomez-Fuego A, Garcia JD, Vadaparampil ST, Pal T.

Breast Cancer Res Treat. 2015 May;151(1):169-76. doi: 10.1007/s10549-015-3374-7. Epub 2015 Apr 14.

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