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Genetic etiology of hearing loss in Iran
Author / Creator:Babanejad, Mojgan ; Beheshtian, Maryam ; Jamshidi, Fereshteh ; Mohseni, Marzieh ; Booth, Kevin T. ; Kahrizi, Kimia ; Najmabadi, Hossein
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-04, Vol.141 (3-4), p.623-631
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Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
Author / Creator:Saghi, Mostafa ; InanlooRahatloo, Kolsoum ; Alavi, Afagh ; Kahrizi, Kimia ; Najmabadi, Hossein
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-04, Vol.15 (1), p.89-89, Article 89
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Distinct genetic variation and heterogeneity of the Iranian population
Author / Creator:Mehrjoo, Zohreh ; Fattahi, Zohreh ; Beheshtian, Maryam ; Mohseni, Marzieh ; Poustchi, Hossein ; Ardalani, Fariba ; Jalalvand, Khadijeh ; Arzhangi, Sanaz ; Mohammadi, Zahra ; Khoshbakht, Shahrouz ; Najafi, Farid ; Nikuei, Pooneh ; Haddadi, Mohammad ; Zohrehvand, Elham ; Oladnabi, Morteza ; Mohammadzadeh, Akbar ; Jafari, Mandana Hadi ; Akhtarkhavari, Tara ; Gooshki, Ehsan Shamsi ; Haghdoost, Aliakbar ; Najafipour, Reza ; Niestroj, Lisa-Marie ; Helwing, Barbara ; Gossmann, Yasmina ; Toliat, Mohammad Reza ; Malekzadeh, Reza ; Nürnberg, Peter ; Kahrizi, Kimia ; Najmabadi, Hossein ; Nothnagel, Michael
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-09, Vol.15 (9), p.e1008385
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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
Author / Creator:Davarniya, Behzad ; Hu, Hao ; Kahrizi, Kimia ; Musante, Luciana ; Fattahi, Zohreh ; Hosseini, Masoumeh ; Maqsoud, Fariba ; Farajollahi, Reza ; Wienker, Thomas F. ; Ropers, H. Hilger ; Najmabadi, Hossein
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631
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Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population
Author / Creator:Khanbazi, Ali ; Beheshtian, Maryam ; Azad, Maryam ; Akbari Kelishomi, Masoumeh ; Afroozan, Fariba ; Fatehi, Fatemeh ; Noudehi, Khadijeh ; Zamanian Najafabadi, Shima ; Omrani, Mohammadamin ; Habibi, Haleh ; Taghdiri, Maryam ; Abdi Rad, Isa ; Nafissi, Shahriar ; Jankhah, Aria ; Yazdan, Hilda ; Daneshmand, Parvaneh ; Saberi, Seyed Hosseinali ; Kahrizi, Kimia ; Kariminejad, Ariana ; Najmabadi, Hossein
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-12, Vol.14 (1), p.29880-11, Article 29880
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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
Author / Creator:Michel, Vincent ; Booth, Kevin T ; Patni, Pranav ; Cortese, Matteo ; Azaiez, Hela ; Bahloul, Amel ; Kahrizi, Kimia ; Labbé, Ménélik ; Emptoz, Alice ; Lelli, Andrea ; Dégardin, Julie ; Dupont, Typhaine ; Aghaie, Asadollah ; Oficjalska‐Pham, Danuta ; Picaud, Serge ; Najmabadi, Hossein ; Smith, Richard J ; Bowl, Michael R ; Brown, Steven DM ; Avan, Paul ; Petit, Christine ; El‐Amraoui, Aziz
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2017-12, Vol.9 (12), p.1711-1731
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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...
Author / Creator:Jamshidi, Fereshteh ; Shokouhian, Ebrahim ; Mohseni, Marzieh ; Kahrizi, Kimia ; Najmabadi, Hossein ; Babanejad, Mojgan
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-05, Vol.11 (5), p.e2168-n/a
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
Author / Creator:Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald ; Lüdecke, Hermann-Josef ; Koch-Hogrebe, Margarete ; Alsaif, Hessa S. ; Kahrizi, Kimia ; Alzaidan, Hamad ; Alawam, Bashayer S. ; Tohary, Mohamed ; Kraus, Cornelia ; Endele, Sabine ; Wadman, Erin ; Kaplan, Julie D. ; Efthymiou, Stephanie ; Najmabadi, Hossein ; Reis, André ; Alkuraya, Fowzan S. ; Wieczorek, Dagmar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of molecular medicine (Berlin, Germany), 2021-12, Vol.99 (12), p.1755-1768
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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-07, Vol.65 (7), p.609-617
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
Author / Creator:Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald ; Lüdecke, Hermann‑Josef ; Koch‑Hogrebe, Margarete ; Alsaif, Hessa S. ; Kahrizi, Kimia ; Alzaidan, Hamad ; Alawam, Bashayer S. ; Tohary, Mohamed ; Kraus, Cornelia ; Endele, Sabine ; Wadman, Erin ; Kaplan, Julie D. ; Efthymiou, Stephanie ; Najmabadi, Hossein ; Reis, André ; Alkuraya, Fowzan S. ; Wieczorek, Dagmar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of molecular medicine (Berlin, Germany), 2021-12, Vol.99 (12), p.1769-1770
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Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Author / Creator:Staufner, Christian ; Lindner, Martin ; Dionisi-Vici, Carlo ; Freisinger, Peter ; Dobbelaere, Dries ; Douillard, Claire ; Makhseed, Nawal ; Straub, Beate K. ; Kahrizi, Kimia ; Ballhausen, Diana ; la Marca, Giancarlo ; Kölker, Stefan ; Haas, Dorothea ; Hoffmann, Georg F. ; Grünert, Sarah C. ; Blom, Henk J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.273-283
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Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients
Author / Creator:Mosallaei, Meysam ; Ehtesham, Naeim ; Beheshtian, Maryam ; Khoshbakht, Shahrouz ; Davarnia, Behzad ; Kahrizi, Kimia ; Najmabadi, Hossein
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1894-n/a
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Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran
Author / Creator:Mohseni, Marzieh ; Ashrafi, Farzane Zare ; Abbaspour Rodbaneh, Ehsan ; Mokabber, Haleh ; Vafaei, Maryam ; Nobakht, Ramiz ; Keshavarzi, Fatemeh ; Arzhangi, Sanaz ; Arish, Sara ; Azar, Zahra Nematollahi ; Kahrizi, Kimia ; Najmabadi, Hossein ; Davarnia, Behzad
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-02, Vol.13 (2), p.e70080-n/a
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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
Author / Creator:Fattahi, Zohreh ; Rostami, Parvin ; Najmabadi, Amin ; Mohseni, Marzieh ; Kahrizi, Kimia ; Akbari, Mohammad Reza ; Kariminejad, Ariana ; Najmabadi, Hossein
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-07, Vol.59 (7), p.368-375
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BOD1 Is Required for Cognitive Function in Humans and Drosophila
Author / Creator:Esmaeeli-Nieh, Sahar ; Fenckova, Michaela ; Porter, Iain M. ; Motazacker, M. Mahdi ; Nijhof, Bonnie ; Castells-Nobau, Anna ; Asztalos, Zoltan ; Weißmann, Robert ; Behjati, Farkhondeh ; Tzschach, Andreas ; Felbor, Ute ; Scherthan, Harry ; Sayfati, Seyed Morteza ; Ropers, H. Hilger ; Kahrizi, Kimia ; Najmabadi, Hossein ; Swedlow, Jason R. ; Schenck, Annette ; Kuss, Andreas W.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-05, Vol.12 (5), p.e1006022-e1006022
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A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia
Author / Creator:Ben Ammar, Asma ; Soltanzadeh, Payam ; Bauché, Stéphanie ; Richard, Pascale ; Goillot, Evelyne ; Herbst, Ruth ; Gaudon, Karen ; Huzé, Caroline ; Schaeffer, Laurent ; Yamanashi, Yuji ; Higuchi, Osamu ; Taly, Antoine ; Koenig, Jeanine ; Leroy, Jean-Paul ; Hentati, Fayçal ; Najmabadi, Hossein ; Kahrizi, Kimia ; Ilkhani, Manouchehr ; Fardeau, Michel ; Eymard, Bruno ; Hantaï, Daniel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-01, Vol.8 (1), p.e53826-e53826
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Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
Author / Creator:Pak, ChangHui ; Garshasbi, Masoud ; Kahrizi, Kimia ; Gross, Christina ; Apponi, Luciano H ; Noto, John J ; Kelly, Seth M ; Leung, Sara W ; Tzschach, Andreas ; Behjati, Farkhondeh ; Abedini, Seyedeh Sedigheh ; Mohseni, Marzieh ; Jensen, Lars R ; Hu, Hao ; Huang, Brenda ; Stahley, Sara N ; Liu, Guanglu ; Williams, Kathryn R ; Burdick, Sharon ; Feng, Yue ; Sanyal, Subhabrata ; Bassell, Gary J ; Ropers, Hans-Hilger ; Najmabadi, Hossein ; Corbett, Anita H ; Moberg, Kenneth H ; Kuss, Andreas W
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (30), p.12390-12395
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2024-02, Vol.9 (1), p.12-12, Article 12
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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
Author / Creator:Iqbal, Zafar ; Püttmann, Lucia ; Musante, Luciana ; Razzaq, Attia ; Zahoor, Muhammad Yasir ; Hu, Hao ; Wienker, Thomas F ; Garshasbi, Masoud ; Fattahi, Zohreh ; Gilissen, Christian ; Vissers, Lisenka ELM ; de Brouwer, Arjan PM ; Veltman, Joris A ; Pfundt, Rolph ; Najmabadi, Hossein ; Ropers, Hans-Hilger ; Riazuddin, Sheikh ; Kahrizi, Kimia ; van Bokhoven, Hans
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.392-399
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Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations
Author / Creator:BEHESHTIAN, MARYAM ; IZADI, NASIM ; KRIEGSHAUSER, GERNOT ; KAHRIZI, KIMIA ; MEHR, ELHAM PARSI ; ROSTAMI, MARYAM ; HOSSEINI, MASOUMEH ; AZAD, MARYAM ; MONTAJABINIAT, MONA ; KARIMINEJAD, ARIANA ; NEMETH, STEFAN ; OBERKANINS, CHRISTIAN ; NAJMABADI, HOSSEIN
Publisher:New Delhi: Springer India
Journal title:Journal of genetics, 2016-09, Vol.95 (3), p.667-674
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Showing 1 to 20 of 95 results

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Genetic etiology of hearing loss in Iran

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Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

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Distinct genetic variation and heterogeneity of the Iranian population

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

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Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

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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...

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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

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Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

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Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients

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Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran

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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

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BOD1 Is Required for Cognitive Function in Humans and Drosophila

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A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

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Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

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Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

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