Publications by authors named "Zahra Hadipour"

11Publications

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Authors:
Shereen G Ghosh Marcello Scala Christian Beetz Guy Helman Valentina Stanley Xiaoxu Yang Martin W Breuss Neda Mazaheri Laila Selim Fatemeh Hadipour Lynn Pais Chloe A Stutterd Vasiliki Karageorgou Amber Begtrup Amy Crunk Jane Juusola Rebecca Willaert Leigh A Flore Kelly Kennelly Christopher Spencer Martha Brown Pamela Trapane Anna C E Hurst S Lane Rutledge Dana H Goodloe Marie T McDonald Vandana Shashi Kelly Schoch Hoda Tomoum Raghda Zaitoun Zahra Hadipour Hamid Galehdari Alistair T Pagnamenta Majid Mojarrad Alireza Sedaghat Patrícia Dias Sofia Quintas Atiyeh Eslahi Gholamreza Shariati Peter Bauer Cas Simons Henry Houlden Mahmoud Y Issa Maha S Zaki Reza Maroofian Joseph G Gleeson

Eur J Hum Genet 2020 Sep 8. Epub 2020 Sep 8.

Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.

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September 2020

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.

Authors:
Saeed Farajzadeh Valilou Afagh Alavi Mahdiyeh Pashaei Saghar Ghasemi Firouzabadi Yousef Shafeghati Ahoura Nozari Fatemeh Hadipour Zahra Hadipour Bijan Maghsoodlou Estrabadi Seyed Gholamreza Noorazar Susan Banihashemi Javad Karimian Mahshid Fattahi Farkhondeh Behjati

Mol Syndromol 2020 Jun 11;11(2):62-72. Epub 2020 Mar 11.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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June 2020

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

Authors:
Akbar Mohammadzadeh Susan Akbaroghli Ehsan Aghaei-Moghadam Nejat Mahdieh Reza Shervin Badv Payman Jamali Roxana Kariminejad Zahra Chavoshzadeh Saghar Ghasemi Firouzabadi Roxana Mansour Ghanaie Ahoura Nozari Sussan Banihashemi Fatemeh Hadipour Zahra Hadipour Ariana Kariminejad Hossein Najmabadi Yousef Shafeghati Farkhondeh Behjati

Cell J 2019 Oct 15;21(3):337-349. Epub 2019 Jun 15.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Electronic Address:

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October 2019

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.

Authors:
Hossein Moravej Anis Amirhakimi Alireza Showraki Hamid Amoozgar Zahra Hadipour Ghasem Nikfar

Iran J Med Sci 2018 Mar;43(2):218-222

Department of Pediatrics, Fasa University of Medical sciences, Fasa, Iran.

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March 2018

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Authors:
Ramesh Reddy Ngoc M P Nguyen Guillaume Sarrabay Maryam Rezaei Mayra C G Rivas Aysenur Kavasoglu Hakan Berkil Alaa Elshafey Ebtesam Abdalla Kristin P Nunez Hélène Dreyfus Merviel Philippe Zahra Hadipour Asude Durmaz Erin E Eaton Brittany Schubert Volkan Ulker Fatemeh Hadipour Isabelle Touitou Majid Fardaei Rima Slim

Eur J Hum Genet 2016 10;24(10):1516

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October 2016

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Authors:
Ramesh Reddy Ngoc M P Nguyen Guillaume Sarrabay Maryam Rezaei Mayra C G Rivas Aysenur Kavasoglu Hakan Berkil Alaa Elshafey Ebtesam Abdalla Kristin P Nunez Hélène Dreyfus Merviel Philippe Zahra Hadipour Asude Durmaz Erin E Eaton Brittany Schubert Volkan Ulker Fatemeh Hadipour Fatemeh Ahmadpour Isabelle Touitou Majid Fardaei Rima Slim

Eur J Hum Genet 2016 10 9;24(10):1445-52. Epub 2016 Mar 9.

Department of Human Genetics, McGill University Health Centre Research Institute, Montréal, Canada.

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October 2016

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation.

Authors:
Farkhondeh Behjati Saghar Ghasemi Firouzabadi Firoozeh Sajedi Kimia Kahrizi Mostafa Najafi Behruz Ebrahimizade Ghasemlou Yousef Shafeghati Fatemeh Behnia Ali Reza Mohammadi Arya Hossein Karimi Fatemeh Hadipour Zahra Hadipour Peyman Jamali Roxana Kariminejad Hossein Darvish Ideh Bahman Eiman Bagherizadeh Hossein Najmabadi Roshanak Vameghi

Iran Red Crescent Med J 2013 Oct 5;15(10):e8221. Epub 2013 Oct 5.

Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.

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October 2013

Yunis-Varón syndrome: the first report of two Iranian cases.

Authors:
Zahra Hadipour Yousef Shafeghati Fatemeh Hadipour

Acta Med Iran 2014 ;52(1):85-7

Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran..

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November 2014

Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family.

Authors:
Fatemeh Hadipour Yousef Shafeghati Eiman Bagherizadeh Farkhondeh Behjati Zahra Hadipour

Acta Med Iran 2013 ;51(12):907-9

Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.

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September 2014

Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.

Authors:
Fatemeh Hadipour Peymaneh Sarkheil Mehrdad Noruzinia Zahra Hadipour Taghi Baghdadi Yousef Shafeghati

Indian J Hum Genet 2013 Jan;19(1):84-6

Department of Medical Genetics, Sarem Cell Research Center, Sarem Women Hospital, Tehran, Iran.

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January 2013

BAX pro-apoptotic gene alterations in repeated pregnancy loss.

Authors:
Seyed Mohammad Seyedhassani Massoud Houshmand Seyed Mehdi Kalantar Abbas Aflatoonian Glayol Modabber Feyzollah Hashemi-Gorji Zahra Hadipour

Arch Med Sci 2011 02 8;7(1):117-22. Epub 2011 Mar 8.

Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

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February 2011