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Items: 24

1.

Quantification of circulating miR-517c-3p and miR-210-3p levels in preeclampsia.

Nejad RMA, Saeidi K, Gharbi S, Salari Z, Saleh-Gohari N.

Pregnancy Hypertens. 2019 Apr;16:75-78. doi: 10.1016/j.preghy.2019.03.004. Epub 2019 Mar 11.

PMID:
31056162
2.

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

Saeidi K, Saleh Gohari N, Mansouri Nejad SE.

Iran J Child Neurol. 2018 Fall;12(4):111-119.

3.

A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis.

Saleh-Gohari N, Saeidi K, Zeighaminejad R.

J Clin Pathol. 2018 Sep;71(9):821-824. doi: 10.1136/jclinpath-2018-205074. Epub 2018 Mar 27.

PMID:
29588375
4.

Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers.

Saleh-Gohari N, Khademi Bami M, Nikbakht R, Karimi-Maleh H.

J Clin Pathol. 2015 Jul;68(7):562-6. doi: 10.1136/jclinpath-2014-202825. Epub 2015 May 2.

PMID:
25935548
5.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014.

6.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.

Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Review.

7.

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A.

Gene. 2013 May 1;519(2):295-7. doi: 10.1016/j.gene.2013.02.008. Epub 2013 Feb 20.

8.

Co-inheritance of sickle cell trait and thalassemia mutations in South central iran.

Saleh-Gohari N, Mohammadi-Anaie M.

Iran J Public Health. 2012;41(10):81-6. Epub 2012 Oct 1.

9.

Congenital insensitivity to pain with anhidrosis in an Iranian patient.

Saleh-Gohari N, Mohammadi-Anaie M.

Basic Clin Neurosci. 2013 Winter;4(1):88-90.

10.

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.

Haghighi A, Nikuei P, Haghighi-Kakhki H, Saleh-Gohari N, Baghestani S, Krawitz PM, Hecht J, Mundlos S.

Br J Dermatol. 2013 Jun;168(6):1353-6. doi: 10.1111/bjd.12151. No abstract available.

PMID:
23210707
11.

BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran.

Saleh-Gohari N, Mohammadi-Anaie M, Kalantari-Khandani B.

Iran J Cancer Prev. 2012 Fall;5(4):210-5.

12.

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP.

J Invest Dermatol. 2013 Feb;133(2):571-3. doi: 10.1038/jid.2012.289. Epub 2012 Aug 30. No abstract available.

13.

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Haghighi A, Haghighi A, Setoodeh A, Saleh-Gohari N, Astuti D, Barrett TG.

Eur J Hum Genet. 2013 Mar;21(3):347-51. doi: 10.1038/ejhg.2012.154. Epub 2012 Jul 11.

14.

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.

Haghighi A, Al-Hamed M, Al-Hissi S, Hynes AM, Sharifian M, Roozbeh J, Saleh-Gohari N, Sayer JA.

NDT Plus. 2011 Dec;4(6):421-3. doi: 10.1093/ndtplus/sfr096. Epub 2011 Aug 18.

15.

Spectrum of α-globin gene mutations in the Kerman Province of Iran.

Saleh-Gohari N, Khosravi-Mashizi A.

Hemoglobin. 2010;34(5):451-60. doi: 10.3109/03630269.2010.511587.

PMID:
20854119
16.

Distribution of β-Globin Gene Mutations in Thalassemia Minor Population of Kerman Province, Iran.

Saleh-Gohari N, Bazrafshani M.

Iran J Public Health. 2010;39(2):69-76. Epub 2010 Jun 30.

17.

A family with the 619 bp deletion on the beta-globin gene found in Kerman Province, Iran.

Saleh-Gohari N, Mashizi AK.

Hemoglobin. 2009;33(6):515-8. doi: 10.3109/03630260903335935.

PMID:
19958199
18.

The ERCC1/XPF endonuclease is required for completion of homologous recombination at DNA replication forks stalled by inter-strand cross-links.

Al-Minawi AZ, Lee YF, Håkansson D, Johansson F, Lundin C, Saleh-Gohari N, Schultz N, Jenssen D, Bryant HE, Meuth M, Hinz JM, Helleday T.

Nucleic Acids Res. 2009 Oct;37(19):6400-13. doi: 10.1093/nar/gkp705. Epub 2009 Aug 27.

19.

The ERCC1/XPF endonuclease is required for efficient single-strand annealing and gene conversion in mammalian cells.

Al-Minawi AZ, Saleh-Gohari N, Helleday T.

Nucleic Acids Res. 2008 Jan;36(1):1-9. Epub 2007 Oct 25.

20.

RAD51C (RAD51L2) is involved in maintaining centrosome number in mitosis.

Renglin Lindh A, Schultz N, Saleh-Gohari N, Helleday T.

Cytogenet Genome Res. 2007;116(1-2):38-45.

PMID:
17268176
21.

Spontaneous homologous recombination is induced by collapsed replication forks that are caused by endogenous DNA single-strand breaks.

Saleh-Gohari N, Bryant HE, Schultz N, Parker KM, Cassel TN, Helleday T.

Mol Cell Biol. 2005 Aug;25(16):7158-69.

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Poly(ADP-ribose) polymerase (PARP-1) has a controlling role in homologous recombination.

Schultz N, Lopez E, Saleh-Gohari N, Helleday T.

Nucleic Acids Res. 2003 Sep 1;31(17):4959-64.

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