Search Results - "Babanejad, Mojgan"

Genetic etiology of hearing loss in Iran by Babanejad, Mojgan, Beheshtian, Maryam, Jamshidi, Fereshteh, Mohseni, Marzieh, Booth, Kevin T., Kahrizi, Kimia, Najmabadi, Hossein

“…Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world’s population. There has been an exponential increase in the…”
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Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review by Jamshidi, Fereshteh, Shokouhian, Ebrahim, Mohseni, Marzieh, Kahrizi, Kimia, Najmabadi, Hossein, Babanejad, Mojgan

“…Background To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL)…”
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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS) by Mohseni, Marzieh, Akbari, Mojdeh, Booth, Kevin T, Babanejad, Mojgan, Azaiez, Hela, Ardalani, Fariba, Arzhangi, Sanaz, Jalalvand, Khadijeh, Nikzat, Nooshin, Ghodratpour, Fatemeh, Jamali, Payman, Adeli, Omid Ali, Habibi, Haleh, Kahrizi, Kimia, Najmabadi, Hossein

“…Mutations in the CDC14A (Cell Division-Cycle 14A) gene, which encodes a conserved dual-specificity protein tyrosine phosphatase, have been identified as a…”
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PDZD7 and hearing loss: More than just a modifier by Booth, Kevin T., Azaiez, Hela, Kahrizi, Kimia, Simpson, Allen C., Tollefson, William T.A., Sloan, Christina M., Meyer, Nicole C., Babanejad, Mojgan, Ardalani, Fariba, Arzhangi, Sanaz, Schnieders, Michael J., Najmabadi, Hossein, Smith, Richard J.H.

“…Deafness is the most frequent sensory disorder. With over 90 genes and 110 loci causally implicated in non‐syndromic hearing loss, it is phenotypically and…”
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A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran by Babanejad, Mojgan, Fattahi, Zohreh, Bazazzadegan, Niloofar, Nishimura, Carla, Meyer, Nicole, Nikzat, Nooshin, Sohrabi, Elahe, Najmabadi, Amin, Jamali, Peyman, Habibi, Farkhonde, Smith, Richard J.H., Kahrizi, Kimia, Najmabadi, Hossein

“…Hearing loss is the most common sensory disorder worldwide and affects 1 of every 500 newborns. In developed countries, at least 50% of cases are genetic, most…”
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population by 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

“…Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical…”
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Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population by Fattahi, Zohreh, Shearer, A. Eliot, Babanejad, Mojgan, Bazazzadegan, Niloofar, Almadani, Seyed Navid, Nikzat, Nooshin, Jalalvand, Khadijeh, Arzhangi, Sanaz, Esteghamat, Fatemehsadat, Abtahi, Rezvan, Azadeh, Batool, Smith, Richard J.H., Kahrizi, Kimia, Najmabadi, Hossein

“…MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin‐XV, an unconventional myosin critical for the formation of stereocilia in hair…”
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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders by 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

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Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases by Najafi, Kimia, Gholami, Soheila, Moshtagh, Azadeh, Bazrgar, Masood, Sadatian, Neda, Abbasi, Golemaryam, Rostami, Parvin, Khalili, Soheila, Babanejad, Mojgan, Nourmohammadi, Bahareh, Faramarzi Garous, Negin, Najmabadi, Hossein, Kariminejad, Roxana

“…Background Pregnancy loss affects 10%–15% of pregnancies and is caused by several factors, maternal and fetal. Most common cause is chromosomal aneuploidy and…”
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Association between Cytochrome P450 2 C9 and Vitamin K Epoxide Reductase Complex Subunit 1 Polymorphisms with Warfarin dose among Iranian Patients by Kameli, Reyhaneh, Hasanzad, Mandana, Tahmasebi Fard, Zahra, Babanejad, Mojgan, Imeni, Mahdieh, Feizi Barnaji, Lotfollah, Madadkar, Atoosa, Jamaldini, Seyed Hamid

“…Background: Warfarin is a common anticoagulant drug that has a narrow therapeutic index; higher dose causes excessive bleeding and lower dose leads to…”
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Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile by Jamaldini, Seyed Hamid, Babanejad, Mojgan, Mozaffari, Reza, Nikzat, Nooshin, Jalalvand, Khadijeh, Badiei, Azadeh, Sanati, Hamidreza, Shakerian, Farshad, Afshari, Mahdi, Kahrizi, Kimia, Najmabadi, Hossein

“…Coronary artery disease (CAD) is the leading cause of mortality in many parts of the world. Genome-wide association studies (GWAS) have identified several…”
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Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review by Ghasemi, Aida, Sadr, Zahra, Babanejad, Mojgan, Rohani, Mohammad, Alavi, Afagh

“…Introduction: In human genetic disorders, copy number variations (CNVs) are considered a considerable underlying cause. CNVs are generally detected by…”
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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran by Sloan-Heggen, Christina M, Babanejad, Mojgan, Beheshtian, Maryam, Simpson, Allen C, Booth, Kevin T, Ardalani, Fariba, Frees, Kathy L, Mohseni, Marzieh, Mozafari, Reza, Mehrjoo, Zohreh, Jamali, Leila, Vaziri, Saeideh, Akhtarkhavari, Tara, Bazazzadegan, Niloofar, Nikzat, Nooshin, Arzhangi, Sanaz, Sabbagh, Farahnaz, Otukesh, Hasan, Seifati, Seyed Morteza, Khodaei, Hossein, Taghdiri, Maryam, Meyer, Nicole C, Daneshi, Ahmad, Farhadi, Mohammad, Kahrizi, Kimia, Smith, Richard J H, Azaiez, Hela, Najmabadi, Hossein

“…Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary…”
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An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene by Mohseni, Marzieh, Mohammadi, Yusuf, Zare Ashrafi, Farzane, Ghodratpour, Fatemeh, Jalalvand, Khadijeh, Arzhangi, Sanaz, Babanejad, Mojgan, Azizi, Mohammad Hossein, Kahrizi, Kimia, Najmabadi, Hossein

“…Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation…”
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Variants in CIB2 cause DFNB48 and not USH1J by Booth, K.T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., Zareabdollahi, D., Duman, D., El‐Amraoui, A., Tekin, M., Najmabadi, H., Azaiez, H., Smith, R.J.

“…The mutational spectrum of CIB2 includes missense, nonsense, splice‐site, frameshift and copy number variants. Regardless of variant‐type, location or…”
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SLC52A2 mutations cause SCABD2 phenotype: A second report by Babanejad, Mojgan, Adeli, Omid Ali, Nikzat, Nooshin, Beheshtian, Maryam, Azarafra, Hakimeh, Sadeghnia, Farnaz, Mohseni, Marzieh, Najmabadi, Hossein, Kahrizi, Kimia

“…Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs…”
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Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran by Mohseni, Marzieh, Babanejad, Mojgan, Booth, Kevin T., Jamali, Payman, Jalalvand, Khadijeh, Davarnia, Behzad, Ardalani, Fariba, Khoshaeen, Atefeh, Arzhangi, Sanaz, Ghodratpour, Fatemeh, Beheshtian, Maryam, Jahanshad, Faezeh, Otukesh, Hasan, Bahrami, Fatemeh, Seifati, Seyed Morteza, Bazazzadegan, Niloofar, Habibi, Farkhonde, Behravan, Hanieh, Mirzaei, Sepide, Keshavarzi, Fatemeh, Nikzat, Nooshin, Mehrjoo, Zohreh, Thiele, Holger, Nothnagel, Michael, Azaiez, Hela, Smith, Richard J., Kahrizi, Kimia, Najmabadi, Hossein

“…Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically…”
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G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma by Babanejad, Mojgan, Zarandy, Masoud Motasaddi, Nikzat, Nooshin, Bazazzadegan, Niloofar, Arzhangi, Sanaz, Mohseni, Marzieh, Kahrizi, Kimia, Najmabadi, Hossein

“…Mutations in the GJB2 gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as…”
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Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families by MEHRJOO, ZOHREH, BABANEJAD, MOJGAN, KAHRIZI, KIMIA, NAJMABADI, HOSSEIN

“…In a recent screening programme on hearing loss (HL), we examined 17 common autosomal recessive nonsyndromic hearing loss (ARNSHL) genes in every…”
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C-reactive protein and complement factor H polymorphism interaction in advanced exudative age-related macular degeneration by Soheilian, Roham, Jabbarpour Bonyadi, Mohammad Hossein, Moein, Hamidreza, Babanejad, Mojgan, Ramezani, Alireza, Yaseri, Mehdi, Soheilian, Masoud

“…Purpose To determine the association of C-reactive protein (CRP) and complement factor H (CFH) gene with exudative age-related macular degeneration (AMD) and…”
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