Shahid Beheshti
University of Medical Sciences


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Selected Papers- 2016

1.   Comparison of Insulin Expression Levels in White Blood Cells of infants with and without Family History of Type II Diabetes,  Novelty in Biomedicine,   Received: 29 November, 2015; Accepted: 17 Feburary, 2016


2.   A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration, IJMCM, Autumn 2016, Vol 5, No 4

3.   A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family, IJMCM, Summer 2016, Vol 5, No 3

4.   The study of MED12 gene mutations in uterine leiomyomas from Iranian patients, Tumor Biol. (2016) 37:1567–1571, DOI 10.1007/s13277-015-3943-8

5.   RAR-related orphan receptor A (RORA): A new susceptibility gene for multiple sclerosis, Journal of the Neurological Sciences 369 (2016) 259–262

6.   Low Bone Mineral Density in Adolescents with Joint Hypermobility,European Society for paediatric Endocrinology (ESPE), France, Paris, September 18-20, 2016

7.   Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees, Original Article, CELL JOURNAL(Yakhteh), Vol 18, No 3, Oct-Dec (Autumn) 2016  

8.   A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia, Case Report, Iran J Med Sci September 2016; Vol 41 No 5 


10. Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI, Fetal and Pediatric Pathology, ISSN: 1551-3815 (Print) 1551-3823 (Online) Journal homepage

11. Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience, DOI: Control in Western Asia Special Issue.149

12.  New Gene Profiling in Determination of Breast Cancer Recurrence and Prognosis in Iranian Women , DOI: Control in Western Asia Special Issue.155

13.  Leigh syndrome associated with a novel mutation in the COX15 gene, case Report, DE GRUYTER, J Pediatr Endocrinol Metab 2016; aop

14.  Report of a Case with Trisomy 9 Mosaicism, Case Report, IJMCM,Vol 41, No 3, May 2016  

15. A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report, IJP, Case Report (Pages: 1315-1318), Int J Pediatr, Vol.4, N. 2, Serial No.26, Feb 2016

16.    First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population, doi: 10.5812/ircmj.21633, Iran Red Crescent Med J. 2016; In Press(In Press): e21633

Selected Papers- 2015

1.      Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP  Gene, Case Report, IJMCM , Autumn 2015, Vol 4, No 4

2.      Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1, Human Immonology,  doi:10.1016/j.humimm.2015.11.019 

3.      A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type a, GENE, doi: 10.1016/j.gene.2015.08.071

4.       Impact of reasonable genetic testing in prevention of rare genetic disorders.ASHG 2015. USA, Baltimore

5.      Mutation spectra of BRCA genes in Iranian women with early onset breast cancer, 15 years experiences. ASHG 2015. USA, Baltimore

6.      MicroRNA profiling during germline differentiation of mouse embryonic stem cells, Cell. Mol. Biol. 2015; 61 (3): 84-91  

7.      Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA, Clinica Chimica Acta, doi: 10.1016/j.cca.2015.08.006

8.       Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia, Cell. Mol. Biol. 2015; 61 (4): 51-55

9.      Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family,☆☆, Gene 570 (2015) 304–305

10.   A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities, GENE-40787; No. of pages: 2; 4C

11.   A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene  Gene, Volume 571, Issue 1, 15 October 2015, Pages 149–150

12.   Analysis of the androgen receptor CAG repeats length in Iranian patients with idiopathic non-obstructive azoospermia, Asian Pacific Journal of Reproduction 2015; 4(4)

Selected Papers- 2014

1.      A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD), J Pediatr Endocrinol Metab. 2014 Nov 6. doi: 10.1515/jpem-2014-0341

2.      Evaluation of in vitro Spermatogenesis System Effectiveness to Study Genes Behavior: Monitoring the Expression of the Testis Specific 10 (Tsga10) Gene as a Model, Archives of Iranian Medicine, Volume 17, Number 10, October 2014

3.      A vector-based system for the differentiation of mouse embryonic stem cells toward germ-line cells ,, 2014

4.      P0128 ASSOCIATION BETWEEN SLC4A7 AND COX11 VARIANTS AND BREAST CANCER IN AN IRANIAN POPULATION, DOI: 10.1016/j.ejca.2014.03.172, European journal of Cancer, Volume 50, Supplement 4, May 2014, Pages e45

5.      Tuboplasty as a reversal macrosurgery for tubal ligation, is pregnancy possible? A case series Iran J Reprod Med Vol. 12. No. 5. pp: 361-364, May 2014

6.      The Effect of Progesterone Suppositories on Threatened Abortion: A Randomized Clinical Trial, J Reprod Infertil. 2014;15(3):147-151

7.      Single-Nucleotide Polymorphisms Within MicroRNAs Sequences and Their 3 UTR Target Sites May Regulate Gene Expression in Gastrointestinal Tract Cancers, Iran Red Crescent Med J. 2014 July; 16(7): e16659. DOI: 10.5812/ircmj.16659

8.      Prevalence of Subclinical Hypothyroidism in Pregnant Women in Tehran-Iran, Royan Institute, International Journal of Fertility and Sterility, Vol 8, No 2, Jul-Sep 2014, Pages: 163-166

9.      A new approach for molecular diagnosis of TAR syndrome, Biochem.2014,

10.   Cloning and Expression of Influenza H1N1 NS1 Protein in Escherichia Coli BL21. Iran J Biotech. 2014 April; 12(1): e12625. DOI: 10.5812/ijb.12625

11.   A novel mutations in Iranian family with Phenylketonuria,

European Journal of Human Genetics, Volume 22 Supplemenr 1, May 2014

12.   A novel homozygote p.Met540Ile LMNA mutation causes mandibuloacral dysplasia type A,

         European Journal of Human Genetics, Volume 22 Supplemenr 1, May 2014

13.   Association study of promoter polymorphisms of nucb2 gene in Iranian patients with type 2 diabetes,

          European Journal of Human Genetics, Volume 22 Supplemenr 1, May 2014

14.   Mutation spectra of the ITGB2 gene in Iranian families with Leukocyte Adhesion Deficiency type 1,

       European Journal of Human Genetics, Volume 22 Supplemenr 1, May 2014

Selected Papers- 2013

1.     Expression analysis of PAWP during mouse embryonic stem cell-based spermatogenesis in vitro, Cell.Dev.Biol.—Animal 2013, DOI 10.1007/s11626-013-9722-1

2.     Analysis of SPATA19 gene expression during male germ cells development, lessons from in vivo and in vitro study, Cell Biology International Reports 2013, ISSN 2041-5346, doi: 10.1002/cbi3.10010

3.     MiR-520d expression analysis in breast cancer, Tehran University Medical Journal, May 2013; Vol. 71, No. 2: 90-95

4.     Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification. PubMed, Journal of Genetics, Vol. 92, No. 1, April 2013

5.     C/ebpbeta, e2f-1 and maz are predicted as a putative transcription factor for regulating rbm8a gene expression n TAR syndrome, HGM 2013, SINGAPORE.

6.     Quantitative real-time PCR technique for rapid diagnosis of TAR syndrome, ESHG 2013, PARIS, FRANCE,

Selected Papers- 2012

1.      Pregnancy outcomes in women with idiopathic thrombocytopenic purpura. Iran J Reprod Med Vol. 10. No. 5. pp: 489-492, September 2012

2.      TAR Syndrome, a Rare Case Report with Cleft Lip/Palate, The Internet Journal of Pediatrics and Neonatology. 2012 Volume 14 Number 1. DOI: 10.5580/2c2a

Selected Papers- 2011 downward

·     Breast cancer new genes, more challenge, 70 th Annual meeting of the Japanese Cancer Associatio, Nagoya Japan, 3rd - 5rd October 2011.

·     Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove syndrome- 2011

·     A Double-Blind, Placebo-Controlled Comparison. July 2010

·     BRCA1 and BRCA2 Genetic Testing in Breast and-or Ovarian Cancer Families in Iran. Yakhteh Medical Journal, Vol 12, No 3. Autumn 2010

·     Comparison of CEL I gene expression and mismatch cleavage activity in some Apiacea.Mol Breeding. DOI 10.1007/s11032-009-9267-x .April 2009 

·     No Association between Gadolinium-Based Contrast. Autumn 2009 

·     در تعدادی ازبیماران ایرانی با ظهور زودهنگام سرطانBRCA1 و BRCA2 ‌شناسايي جهش‌هاي  پستان و یا سابقة خانوادگی ابتلا به این بیماری- تابستان 88    

·     Gene assembling a new approach in molecular diagnosis of hereditary breast cancer. May 2007

·     Novelmutations in the BRCA1 and BRCA2 genes in Iranian wome. 16 April2002


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