P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Zonooz, Mehrshid Faraji, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Nouri, Maryam Mozaffarpour, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Najafabadi, Shima Zamanian, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Mahdavi, Shokouh Sadat, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, Najmabadi, Hossein
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period
Bazazzadegan, Niloofar, Vazehan, Raheleh, Fadaee, Mahsa, Fattahi, Zohreh, Abolhassani, Ayda, Parsimehr, Elham, Kalhor, Zahra, Faraji Zonooz, Mehrshid, Ahangari, Fatemeh, Dehdahsi, Shima, Samiee, Farshide, Jamali, Payman, Habibi, Haleh, Nourizadeh, Younes, Mahdavi, Shokouh, Beheshtian, Maryam, Kariminejad, Ariana, Smith, Richard Jh, Najmabadi, Hossein
Published in Iranian journal of public health (01.10.2019)
Published in Iranian journal of public health (01.10.2019)
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Journal Article
Is there an Association between Variants in Candidate Insulin Pathway Genes IGF-I, IGFBP-3, INSR, and IRS2 and Risk of Colorectal Cancer in the Iranian Population?
Karimi, Khatoon, Mahmoudi, Touraj, Karimi, Negar, Dolatmoradi, Hesamodin, Arkani, Maral, Farahani, Hamid, Vahedi, Mohsen, Parsimehr, Elham, Dabiri, Reza, Nobakht, Hossein, Asadi, Asadollah, Zali, Mohammad Reza
Published in Asian Pacific journal of cancer prevention : APJCP (2013)
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Published in Asian Pacific journal of cancer prevention : APJCP (2013)
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A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote
Kariminejad, Ariana, Ghaderi‐Sohi, Siavash, Keshavarz, Elham, Hashemi, Seyed Abolghasem, Parsimehr, Elham, Szenker‐Ravi, Emmanuelle, Khatoo, Muznah, Faraji Zonooz, Mehrshid, Reversade, Bruno, Najmabadi, Hossein, Hennekam, Raoul C.
Published in Clinical genetics (01.06.2020)
Published in Clinical genetics (01.06.2020)
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Journal Article
CEP104 and CEP290 ; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families
Khoshbakht, Shahrouz, Beheshtian, Maryam, Fattahi, Zohreh, Bazazzadegan, Niloofar, Parsimehr, Elham, Fadaee, Mahsa, Vazehan, Raheleh, Faraji Zonooz, Mehrshid, Abolhassani, Ayda, Makvand, Mina, Kariminejad, Ariana, Celik, Arzu, Kahrizi, Kimia, Najmabadi, Hossein
Published in Archives of Iranian medicine (01.05.2021)
Published in Archives of Iranian medicine (01.05.2021)
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Journal Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families
Beheshtian, Maryam, Fattahi, Zohreh, Fadaee, Mahsa, Vazehan, Raheleh, Jamali, Payman, Parsimehr, Elham, Kamgar, Mahboubeh, Zonooz, Mehrshid Faraji, Mahdavi, Shokouh Sadat, Kalhor, Zahra, Arzhangi, Sanaz, Abedini, Seyedeh Sedigheh, Kermani, Farahnaz Sabbagh, Mojahedi, Faezeh, Kalscheuer, Vera M., Ropers, Hans‐Hilger, Kariminejad, Ariana, Najmabadi, Hossein, Kahrizi, Kimia
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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Journal Article
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants
Kariminejad, Ariana, Vahidnezhad, Hassan, Ghaderi‐Sohi, Siavash, Ghannadan, Ali R., Youssefian, Leila, Parsimehr, Elham, Faraji Zonooz, Mehrshid, Kariminejad, Mohammad H., Uitto, Jouni, Najmabadi, Hossein, Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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Journal Article
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Faraji Zonooz, Mehrshid, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Mozaffarpour Nouri, Maryam, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Zamanian Najafabadi, Shima, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Sadat Mahdavi, Shokouh, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, Najmabadi, Hossein
Published in Npj genomic medicine (19.02.2024)
Published in Npj genomic medicine (19.02.2024)
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Journal Article
Is there an association between variants in candidate insulin pathway genes IGF-I, IGFBP-3, INSR, and IRS2 and risk of colorectal cancer in the Iranian population?
Karimi, Khatoon, Mahmoudi, Touraj, Karimi, Negar, Dolatmoradi, Hesamodin, Arkani, Maral, Farahani, Hamid, Vahedi, Mohsen, Parsimehr, Elham, Dabiri, Reza, Nobakht, Hossein, Asadi, Asadollah, Zali, Mohammad Reza
Published in Asian Pacific journal of cancer prevention : APJCP (01.01.2013)
Published in Asian Pacific journal of cancer prevention : APJCP (01.01.2013)
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Journal Article
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy
Edizadeh, Masoud, Vazehan, Raheleh, Javadi, Fatemeh, Dehdahsi, Shima, Fadaee, Mahsa, Faraji Zonooz, Mehrshid, Parsimehr, Elham, Ahangari, Fatemeh, Abolhassani, Ayda, Kalhor, Zahra, Fattahi, Zohreh, Beheshtian, Maryam, Kariminejad, Ariana, Akbari, Mohammad Reza, Najmabadi, Hossein, Nafissi, Shahriar
Published in Archives of Iranian medicine (01.09.2017)
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Published in Archives of Iranian medicine (01.09.2017)
Journal Article