Search Results - "Nikzat, Nooshin"

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran by Bazazzadegan, Niloofar, Abedini, Seyedeh Sedigheh, Azarkeivan, Azita, Banihashemi, Susan, Nikzat, Nooshin, Najmabadi, Hossein, Neishabury, Maryam

“…Beta Thalassemia is the most prevalent and well-studied single gene disorder in Iran. Here, we investigated the spectrum of gene mutations, identified among…”
Get full text

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…”
Get more information

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss by Mehregan, Hoda, Mohseni, Marzieh, Jalalvand, Khadijeh, Arzhangi, Sanaz, Nikzat, Nooshin, Banihashemi, Sussan, Kahrizi, Kimia, Najmabadi, Hossein

“…Hereditary hearing loss is the most common neurosensory disorder in humans caused by myriad mutations in numerous genes. Autosomal recessive nonsyndromic…”
Get full text

Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment by Mehregan, Hoda, Mohseni, Marzieh, Akbari, Mojdeh, Jalalvand, Khadijeh, Arzhangi, Sanaz, Nikzat, Nooshin, Kahrizi, Kimia, Najmabadi, Hossein

“…Background: Hearing loss (HL) is the most common sensory deficit in humans, and genetic factors contribute to about half of the cases. With 112 causative genes…”
Get full text

Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene by Rashvand, Zahra, Najmabadi, Hossein, Kahrizi, Kimia, Mozhdehipanah, Hossein, Moradi, Mohammad, Estaki, Zohreh, Taherkhani, Khadijeh, Nikzat, Nooshin, Najafipour, Reza, Omrani, Mir Davood

“…Intellectual disability (ID) represents a significant health challenge due to its diverse and intricate nature. A multitude of genes play a role in brain…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II by KAHRIZI, KIMIA, BAZAZZADEGAN, NILOOFAR, JAMALI, LEILA, NIKZAT, NOOSHIN, KASHEF, ATIE, NAJMABADI, HOSSEIN

“…Usher syndrome (USH) is an autosomal recessive disease characterized by bilateral sensorineural hearing impairment (ARSNHL), and progressive visual loss due to…”
Get full text

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study by Bazazzadegan, Niloofar, Nikzat, Nooshin, Fattahi, Zohreh, Nishimura, Carla, Meyer, Nicole, Sahraian, Shima, Jamali, Payman, Babanejad, Mojgan, Kashef, Atie, Yazdan, Hilda, Sabbagh Kermani, Farahnaz, Taghdiri, Maryam, Azadeh, Batool, Mojahedi, Faezeh, Khoshaeen, Atefeh, Habibi, Haleh, Reyhanifar, Farahnaz, Nouri, Narges, Smith, Richard J.H, Kahrizi, Kimia, Najmabadi, Hossein

“…Abstract Objective Mutations in GJB2 , encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at…”
Get full text

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of Hearing Loss in Iranian population by Kashef, Atie, Nikzat, Nooshin, Bazzazadegan, Niloofar, Fattahi, Zohreh, Sabbagh-Kermani, Farahnaz, Taghdiri, Maryam, Azadeh, Batool, Mojahedi, Faezeh, Khoshaeen, Atefeh, Habibi, Haleh, Najmabadi, Hossein, Kahrizi, Kimia

“…Abstract Objective Hereditary hearing loss is the most common neurosensory disorder in humans. Half of the cases have genetic etiology with extraordinary…”
Get full text

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss by Davarnia, Behzad, Babanejad, Mojgan, Fattahi, Zohreh, Nikzat, Nooshin, Bazazzadegan, Niloofar, Pirzade, Akbar, Farajollahi, Reza, Nishimura, Carla, Jalalvand, Khadijeh, Arzhangi, Sanaz, Kahrizi, Kimia, Smith, Richard J.H, Najmabadi, Hossein

“…Abstract Objective Hereditary hearing impairment is a genetically heterogeneous disorder. In spite of this, mutations in the GJB2 gene, encoding connexin 26…”
Get full text

Did the GJB2 35delG mutation originate in Iran? by Norouzi, Vahideh, Azizi, Hiva, Fattahi, Zohreh, Esteghamat, Fatemehsadat, Bazazzadegan, Niloofar, Nishimura, Carla, Nikzat, Nooshin, Jalalvand, Khadijeh, Kahrizi, Kimia, Smith, Richard. J. H., Najmabadi, Hossein

“…Mutations in GJB2 are a major cause of autosomal recessive non‐syndromic hearing loss (ARNSHL) in many populations. A single mutation of this gene (35delG)…”
Get full text

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population by Hildebrand, Michael S., Kahrizi, Kimia, Bromhead, Catherine J., Shearer, A. Eliot, Webster, Jennifer A., Khodaei, Hossein, Abtahi, Rezvan, Bazazzadegan, Niloofar, Babanejad, Mojgan, Nikzat, Nooshin, Kimberling, William J., Stephan, Dietrich, Huygen, Patrick L. M., Bahlo, Melanie, Smith, Richard J. H., Najmabadi, Hossein

“…Objectives: We investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families. Methods:…”
Get full text

Molecular Characterization of α-Thalassemia in the Dohuk Region of Iraq by Al-Allawi, Nasir A.S., Badi, Ameer I.A., Imanian, Hasham, Nikzat, Nooshin, Jubrael, Jaladet M.S., Najmabadi, Hossein

“…The molecular basis of α-thalassemia (α-thal) has been addressed by several studies from the eastern Mediterranean region, but not from Iraq. To address this…”
Get full text

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population by Pouya, Ali Reza, Abedini, Seyedeh Sedigheh, Mansoorian, Neda, Behjati, Farkhondeh, Nikzat, Nooshin, Mohseni, Marzieh, Nieh, Sahar Esmaeeli, Abbasi Moheb, Lia, Darvish, Hossein, Monajemi, Gholamreza Bahrami, Banihashemi, Susan, Kahrizi, Kimia, Ropers, Hans Hilger, Najmabadi, Hossein

“…Abstract Fragile X syndrome is the most common form of inherited mental retardation (MR). It is caused by the expansion of CGG triplet repeats in the fragile X…”
Get full text