Yousef Shafeghati , MD
January 4, 2014
Associate Prof. of Pediatrics and Clinical Genetics
Genetics Research Center
University of Welfare and Rehabilitation Sciences
Medical Genetics Department
Sarem Women Hospital
Tehran IR of IRAN
Telefax: +98(21) 44 633 283
e-mail: dr.yshafagh@gmail.com
Home address :
No. 581 , Enterance No 16 .Complex D1, Ekbatan Residential complex, Phase 3, Tehran , 13939,
IRAN
Phone: Home +98 (21) 44640244, hospital: 44633283
Academic Records :
General pediatrics Iranian Board Certification (1360) 1881
MD degree from Tehran University, Medical School (1352) 1973
Short training courses regarding neurometabolic, neuromuscular, dysmorphology, and genetic
diseases
Practical experiences
Welfare Sciences and Rehabilitation University, Director of Genetic counseling
Service.1997-2002
Iranian welfare organization, Director of Nationwide Genetics Counseling Network
1995-2002
Iran Medical Science University, Department of Pediatrics, 1987-1997
Iran Medical science University Department of neonatology and Genetics 1980-1987
Field of Specialization and interest:
- Pediatrics and clinical Genetics.
- Micromolecular and Macromolecular metabolic diseases.
- Skeletal dysplasias.
- Neuromuscular disorders.
- Genetic counseling.
Publications:
1 - Mehri Hajikhan Mirzaei, M.Sc.1, 2, Mehrdad Noruzinia, M.D., Ph.D. 1, 3, Hamid Karbassian, M.D.4,
Yousef Shafeghati, M.D.1, 5, Mousa Keyhanee, M.Sc.1, Ali Bidmeshki-Pour, Ph.D.2*; Evaluation of
Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic
Breast Cancer. CELL JOURNAL(Yakhteh), Vol 14, No 1, Spring 2012
2 - Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt
K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S,
Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi
S, Whiteford M, Zenker M, Robertson SP.
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal
accumulations correlating with disease severity. Hum Mutat. 2011, Dec 20. doi:
10.1002/humu.22012. [Epub ahead of print]
3- Elahe Keyhani, Jalal Gharesouran, Kimia Kahrizi, Yousef Shafeghati, Hossein Najmabadi,
Mehdi Banan, Fatemeh Moghaddam, Elham Darabi; The Diagnostic Value of Utrophin in Mild
Dystrophinopathy (Becker Muscular Dystrophy). Iranian Journal of Pathology (2010)5 (1), 2-8
.‫ یوسف شفقتی؛ تشخیص بالینی و مولکولی نشانگان کوکاین‬،‫ مهرداد نوروزی نیا‬،‫ زهرا هادی پور‬،‫ فاطمه هادی پور‬- 4
1831 ‫ بهار‬،‫ سال هشتم‬،1 ‫ شماره‬،‫ژنتیک در هزاره سوم‬
5 - I. Bagherizadeh, M. Oveisi, Z. Hadipour, A. Saremi, Y. Shafeghati, and F. Behjati
Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second
trimester. Indian J. of Human Genet. May-August 2010, Vol. 16, Issue 2.
6 - Ce´line Huber, Be´ne´dicte Oule`s, Marta Bertoli, Mounia Chami, Me´lanie Fradin, Yasemin
Alanay, Lihadh I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti,
Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti-Furga, Stephen P.
Robertson, Carine Le Goff, Andrea Onettimuda, Patrizia Paterlini-Bre´chot, Arnold Munnich,
and Vale´rie Cormier-Daire; Identification of CANT1 Mutations in Desbuquois Dysplasia.
American Journal of Human Genetics (2009), 10.001
7 - Yousef Shafeghati MD, Nima Momenin MD, Taher Esfahani MD, Edwin Reyniers, Wim
Wuyts PhD; Vitamin D-Dependent Rickets Type II: Report of a Novel Mutation in the Vitamin
D Receptor Gene; Arch. Iranian Med. 2008; 11 (3): 330-334
8 - Farkhondeh Behjati,1* Yousef Shafeghati,1 Kimia Kahrizi,1 Saghar Ghasemi Firouzabadi,1
Hossein Najmabadi,1 Neil Dixon,2 and Angela F. Davies2;
Interstitial Deletion of the
Short Arm of Chromosome 10 del(10)(p11.2p12.32) in a Patient With Congenital Heart Disease,
Minor Dysmorphism, and Mental Retardation (Research Letter). American Journal of Medical
Genetics Part A 146A:3223–3226 (2008)