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Kimia Kahrizi

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Iran

Genes & Molecular Sequences

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TOP 3
E Papari; Hans-Hilger Ropers; Seyedeh Sedigheh Abedini; I Bahman; M Bastami; Farkhondeh Behjati; A Farhadi; Masoud Garshasbi; M Hosseini; Kimia Kahrizi; L Abbasi Moheb; M Mohseni; Hossein Najmabadi
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
Asma Ben Ammar; Bruno Eymard; Michel Fardeau; Karen Gaudon; Evelyne Goillot; Stéphanie Bauché; Fayçal Hentati; Ruth Herbst; Osamu Higuchi; Caroline Huzé; Manouchehr Ilkhani; Kimia Kahrizi; Jeanine Koenig; Jean-Paul Leroy; Hossein Najmabadi; Pascale Richard; Laurent Schaeffer; Payam Soltanzadeh; Antoine Taly; Yuji Yamanashi; Daniel Hantaï
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Mojgan Babanejad; Niloofar Bazazzadegan; Zohreh Fattahi; Farkhonde Habibi; Peyman Jamali; Kimia Kahrizi; Nicole Meyer; Amin Najmabadi; Nooshin Nikzat; Carla Nishimura; Richard J H Smith; Elahe Sohrabi; Hossein Najmabadi
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

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All Publications

2013: E Papari; Hans-Hilger Ropers; Seyedeh Sedigheh Abedini; I Bahman; M Bastami; Farkhondeh Behjati; A Farhadi; Masoud Garshasbi; M Hosseini; Kimia Kahrizi; L Abbasi Moheb; M Mohseni; Hossein Najmabadi
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
Clinical genetics 2013;83(5):488-90.
2013: Asma Ben Ammar; Bruno Eymard; Michel Fardeau; Karen Gaudon; Evelyne Goillot; Stéphanie Bauché; Fayçal Hentati; Ruth Herbst; Osamu Higuchi; Caroline Huzé; Manouchehr Ilkhani; Kimia Kahrizi; Jeanine Koenig; Jean-Paul Leroy; Hossein Najmabadi; Pascale Richard; Laurent Schaeffer; Payam Soltanzadeh; Antoine Taly; Yuji Yamanashi; Daniel Hantaï
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
PloS one 2013;8(1):e53826.
2012: Mojgan Babanejad; Niloofar Bazazzadegan; Zohreh Fattahi; Farkhonde Habibi; Peyman Jamali; Kimia Kahrizi; Nicole Meyer; Amin Najmabadi; Nooshin Nikzat; Carla Nishimura; Richard J H Smith; Elahe Sohrabi; Hossein Najmabadi
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
American journal of medical genetics. Part A 2012;158A(10):2485-92.
2012: Zohreh Fattahi; Khadijeh Jalalvand; Kimia Kahrizi; Rezvan Abtahi; Seyed Navid Almadani; Sanaz Arzhangi; Batool Azadeh; Mojgan Babanejad; Niloofar Bazazzadegan; Fatemehsadat Esteghamat; Nooshin Nikzat; A Eliot Shearer; Richard J H Smith; Hossein Najmabadi
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
American journal of medical genetics. Part A 2012;158A(8):1857-64.
2012: Niloofar Bazazzadegan; Zohreh Fattahi; Haleh Habibi; Payman Jamali; Kimia Kahrizi; Atie Kashef; Atefeh Khoshaeen; Nicole Meyer; Faezeh Mojahedi; Nooshin Nikzat; Carla Nishimura; Narges Nouri; Farahnaz Reyhanifar; Farahnaz Sabbagh Kermani; Shima Sahraian; Richard J H Smith; Maryam Taghdiri; Hilda Yazdan; Batool Azadeh; Mojgan Babanejad; Hossein Najmabadi
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
International journal of pediatric otorhinolaryngology 2012;76(8):1164-74.
2012: Seyedeh Sedigheh Abedini; Sussan Banihashemi; Farkhondeh Behjati; Saghar Ghasemi Firoozabadi; Kimia Kahrizi; Hossein Najmabadi
Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.
Archives of Iranian medicine 2012;15(6):361-5.
2012: Lia Abbasi-Moheb; Seyedeh Sedigheh Abedini; Sebahattin Cirak; Kirsten Cremer; Sahar Esmaeeli-Nieh; Masoud Garshasbi; Melanie Gonsior; Kimia Kahrizi; Sara Mertel; Mohammad Mahdi Motazacker; Hossein Najmabadi; Leyla Nouri-Vahid; H Hilger Ropers; Stephan J Sigrist; Andreas Tzschach; Robert Weißmann; Dagmar Wieczorek; Andreas W Kuss
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
American journal of human genetics 2012;90(5):847-55.
2012: M J Soltani Banavandi; F Sabbagh; S S Abedinni; I Bahman; Farkhondeh Behjati; H Darvish; Sh Ghadami; S Ghasemi Firouzabadi; E Jafari; Kimia Kahrizi; Gh R Kavoosi; M Mohseni; Hossein Najmabadi
Investigation of genetic causes of intellectual disability in kerman province, South East of iran.
Iranian Red Crescent medical journal 2012;14(2):79-85.
2012: Behzad Davarnia; Reza Farajollahi; Zohreh Fattahi; Khadijeh Jalalvand; Kimia Kahrizi; Nooshin Nikzat; Carla Nishimura; Akbar Pirzade; Richard J H Smith; Sanaz Arzhangi; Mojgan Babanejad; Niloofar Bazazzadegan; Hossein Najmabadi
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
International journal of pediatric otorhinolaryngology 2012;76(2):268-71.
2011: Vahideh Norouzi; Richard J H Smith; Nooshin Nikzat; Carla Nishimura; Hiva Azizi; Niloofar Bazazzadegan; Fatemehsadat Esteghamat; Zohreh Fattahi; Khadijeh Jalalvand; Kimia Kahrizi; Hossein Najmabadi
Did the GJB2 35delG mutation originate in Iran?
American journal of medical genetics. Part A 2011;155A(10):2453-8.
2011: Hao Hu; Tim B Hucho; Kimia Kahrizi; Ideh Bahman; Wei Chen; Katinka Eggers; Masoud Garshasbi; Rita Gerardy-Schahn; Masoumeh Hosseini; Mohammad Mahdi Motazacker; Martina Mühlenhoff; Hossein Najmabadi; H Hilger Ropers; Andreas Tzschach; Klaus Wrogemann; Andreas W Kuss
ST3GAL3 mutations impair the development of higher cognitive functions.
American journal of human genetics 2011;89(3):407-14.
2011: Masoud Garshasbi; Sahel Hemmati; Masoumeh Hosseini; Hao Hu; Kimia Kahrizi; Hossein Najmabadi; Leila Nouri Vahid; Hans-Hilger Ropers; Andreas Tzschach; Masoumeh Falah; Andreas W Kuss
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
American journal of medical genetics. Part A 2011;155A(8):1976-80.
2011: Changhui Pak; Hans-Hilger Ropers; Subhabrata Sanyal; Sara N Stahley; Andreas Tzschach; Kathryn R Williams; Sara W Leung; Guanglu Liu; Kenneth H Moberg; Marzieh Mohseni; Hossein Najmabadi; John J Noto; Seyedeh Sedigheh Abedini; Luciano H Apponi; Gary J. Bassell; Farkhondeh Behjati; Sharon Burdick; Anita H Corbett; Yue Feng; Masoud Garshasbi; Christina Gross; Hao Hu; Brenda Huang; Lars R Jensen; Kimia Kahrizi; Seth M Kelly; Andreas W Kuss
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(30):12390-5.
2011: Muhammad Arshad Rafiq; Annapoorani Ramiah; Hans-Hilger Ropers; Andreas Tzschach; Reinhard Ullmann; John B Vincent; Rosanna Weksberg; Yong Xiang; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Masoud Garshasbi; Hao Hu; Gisele E Ishak; Kimia Kahrizi; Nadir Ali Kerio; Muzammil Ahmad Khan; Andreas W Kuss; Khalid Mahmood; Kelley W Moremen; Farooq Naeem; Abdul Noor; Lucia Püttmann; Hossein Najmabadi
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
American journal of human genetics 2011;89(1):176-82.
2011: Niloofar Bazazzadegan; Abraham M Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Nicole C Meyer; Guy Van Camp; Nele Hilgert; Seyedeh Sedigheh Abedini; Farkhondeh Habibi; Ahmad Daneshi; Carla Nishimura; Matthew R Avenarius; Mohammad Farhadi; Richard J H Smith; Hossein Najmabadi
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
American journal of medical genetics. Part A 2011;155A(5):1202-11.
2011: Farkhondeh Behjati; Hossein Darvish; Masoumeh Fallah; Saghar Ghasemi Firouzabadi; Payman Jamali; Kimia Kahrizi; Roxana Kariminejad; Faezeh Mojahedi; Forough Mojtahedi; Seyedeh Sedigheh Abedini; Javad Ansari; Iman Bagherizadeh; Gholamreza Bahrami Monajemi; Azita Zadeh-Vakili; Hossein Najmabadi
Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.
Archives of medical science : AMS 2011;7(2):321-5.
2011: Andreas W Kuss; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Farkhondeh Behjati; Hossein Darvish; Lia Abbasi-Moheb; Lucia Püttmann; Agnes Zecha; Robert Weissmann; Hao Hu; Marzieh Mohseni; Seyedeh Sedigheh Abedini; Anna Rajab; Christoph Hertzberg; Dagmar Wieczorek; Reinhard Ullmann; Saghar Ghasemi-Firouzabadi; Susan Banihashemi; Sanaz Arzhangi; Valeh Hadavi; Gholamreza Bahrami-Monajemi; Mahboubeh Kasiri; masoom falah; Pooneh Nikuei; Atefeh Dehghan; Masoumeh Sobhani; Payman Jamali; Hans-Hilger Ropers; Hossein Najmabadi
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Human genetics 2011;129(2):141-8.
2011: Kimia Kahrizi; Cougar Hao Hu; Masoud Garshasbi; Seyedeh Sedigheh Abedini; Shirin Ghadami; Roxana Kariminejad; Reinhard Ullmann; Wei Chen; H-Hilger Ropers; Andreas W Kuss; Hossein Najmabadi; Andreas Tzschach
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
European journal of human genetics : EJHG 2011;19(1):115-7.
2010: Michael S Hildebrand; Kimia Kahrizi; Catherine J Bromhead; A Eliot Shearer; Jennifer A Webster; Hossein Khodaei; Rezvan Abtahi; Niloofar Bazazzadegan; Mojgan Babanejad; Nooshin Nikzat; William J Kimberling; Dietrich A Stephan; Patrick Huygen; Melanie Bahlo; Richard J H Smith; Hossein Najmabadi
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
The Annals of otology, rhinology, and laryngology 2010;119(12):830-5.
2010: H Darvish; S Esmaeeli-Nieh; G B Monajemi; M Mohseni; S Ghasemi-Firouzabadi; Seyedeh Sedigheh Abedini; I Bahman; P Jamali; S Azimi; F Mojahedi; A Dehghan; Y Shafeghati; A Jankhah; masoom falah; M J Soltani Banavandi; M Ghani-Kakhi; Masoud Garshasbi; F Rakhshani; A Naghavi; Andreas Tzschach; H Neitzel; Hans-Hilger Ropers; Andreas W Kuss; Farkhondeh Behjati; Kimia Kahrizi; Hossein Najmabadi
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Journal of medical genetics 2010;47(12):823-8.
2010: Yousef Shafeghati; Kimia Kahrizi; Hossein Najmabadi; Andreas Walter Kuss; Hans-Hilger Ropers; Andreas Tzschach
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
European journal of pediatrics 2010;169(12):1535-9.
2010: Michael S Hildebrand; Matthew R Avenarius; Marc Fellous; Yuzhou Zhang; Nicole C Meyer; Jana Auer; Catherine Serres; Kimia Kahrizi; Hossein Najmabadi; Jacques Beckmann; Richard J H Smith
Genetic male infertility and mutation of CATSPER ion channels.
European journal of human genetics : EJHG 2010;18(11):1178-84.
2010: M S Hildebrand; N P Thorne; C J Bromhead; Kimia Kahrizi; J A Webster; Z Fattahi; M Bataejad; William J Kimberling; Dietrich A Stephan; Hossein Najmabadi; Melanie Bahlo; R J H Smith
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
Clinical genetics 2010;77(6):563-71.
2010: Michael S Hildebrand; P Dane Witmer; Shunbin Xu; Stephen S Newton; Kimia Kahrizi; Hossein Najmabadi; David Valle; Richard J H Smith
miRNA mutations are not a common cause of deafness.
American journal of medical genetics. Part A 2010;152A(3):646-52.
2010: M Hasanzad; M Azad; Kimia Kahrizi; B S Saffar; S Nafisi; Z Keyhanidoust; M Azimian; Ali Aghajanirefah; E Also; J A Urtizberea; E F Tizzano; Hossein Najmabadi
Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2010;17(1):160-2.
2009: Asif Mir; Liana Kaufman; Abdul Noor; Mahdi M Motazacker; Talal Jamil; Matloob Azam; Kimia Kahrizi; Muhammad Arshad Rafiq; Rosanna Weksberg; Tanveer Nasr; Farooq Naeem; Andreas Tzschach; Andreas W Kuss; Gisele E Ishak; Dan Doherty; H Hilger Ropers; A James Barkovich; Hossein Najmabadi; Muhammad Ayub; John B Vincent
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
American journal of human genetics 2009;85(6):909-15.
2009: nicolas grillet; Martin Schwander; Michael S Hildebrand; Anna Sczaniecka; Anand Kolatkar; Janice Velasco; Jennifer A Webster; Kimia Kahrizi; Hossein Najmabadi; William J Kimberling; Dietrich A Stephan; Melanie Bahlo; Timothy Wiltshire; Lisa Tarantino; Peter Kuhn; Richard J H Smith; Ulrich Müller
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
American journal of human genetics 2009;85(3):328-37.
2009: Ali Reza Pouya; Seyedeh Sedigheh Abedini; Neda Mansoorian; Farkhondeh Behjati; Nooshin Nikzat; Marzieh Mohseni; Sahar Esmaeeli Nieh; Lia Abbasi Moheb; Hossein Darvish; Gholamreza Bahrami Monajemi; Susan Banihashemi; Kimia Kahrizi; Hans-Hilger Ropers; Hossein Najmabadi
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.
European journal of medical genetics 2009;52(4):170-3.
2009: Kimia Kahrizi; Marzieh Mohseni; Carla Nishimura; Niloofar Bazazzadegan; Stephanie M Fischer; Atefeh Dehghani; Morteza Sayfati; Maryam Taghdiri; Payman Jamali; Richard J H Smith; Fereydoun Azizi; Hossein Najmabadi
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
European journal of pediatrics 2009;168(6):651-3.
2009: N Hilgert; Kimia Kahrizi; Nele Dieltjens; N Bazazzadegan; Hossein Najmabadi; R J H Smith; Guy Van Camp
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
Journal of medical genetics 2009;46(4):272-6.
2009: Matthew R Avenarius; Michael S Hildebrand; Yuzhou Zhang; Nicole C Meyer; Luke L H Smith; Kimia Kahrizi; Hossein Najmabadi; Richard J H Smith
Human male infertility caused by mutations in the CATSPER1 channel protein.
American journal of human genetics 2009;84(4):505-10.
2009: A Eliot Shearer; Michael S Hildebrand; Jennifer A Webster; Kimia Kahrizi; Nicole C Meyer; Khadijeh Jalalvand; Sanaz Arzhanginy; William J Kimberling; Dietrich A Stephan; Melanie Bahlo; Richard J H Smith; Hossein Najmabadi
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
The Laryngoscope 2009;119(4):727-33.
2009: A Eliot Shearer; Michael S Hildebrand; Catherine J Bromhead; Kimia Kahrizi; Jennifer A Webster; Batool Azadeh; William J Kimberling; Ali Anousheh; Arash Nazeri; Dietrich A Stephan; Hossein Najmabadi; Richard J H Smith; Melanie Bahlo
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
American journal of medical genetics. Part A 2009;149A(3):555-8.
2009: Mandana Hasanzad; Zahra Golkar; Roxana Kariminejad; Valeh Hadavi; Navid Almadani; Fariba Afroozan; Iman Salahshurifar; Yousef Shafeghati; Kimia Kahrizi; Hossein Najmabadi
Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.
Annals of the Academy of Medicine, Singapore 2009;38(2):139-41.
2009: Wenke Seifert; Muriel Holder-Espinasse; Jirko Kühnisch; Kimia Kahrizi; Andreas Tzschach; Masoud Garshasbi; Hossein Najmabadi; Andreas Walter Kuss; Wolfram Kress; Geneviève Laureys; Bart Loeys; Eva Brilstra; Grazia M S Mancini; Hélène Dollfus; Karin Dahan; Kira Apse; Hans Christian Hennies; Denise Horn
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Human mutation 2009;30(2):E404-20.
2009: Yuzhou Zhang; Marvam Zanganeh; Navid Al-Madani; Ahmad Daneshi; Kimia Kahrizi; Mahdi Malekpour; Marzieh Mohseni; Faezeh Mojahedi; Hossein Najmabadi; Richard J H Smith
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
BMJ case reports 2009;2009():.
2008: Farkhondeh Behjati; Yousef Shafeghati; Kimia Kahrizi; Saghar Ghasemi Firouzabadi; Hossein Najmabadi; Neil Dixon; Angela F Davies
Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation.
American journal of medical genetics. Part A 2008;146A(24):3223-6.
2008: Farkhondeh Behjati; Yousef Shafaghati; Saghar Ghasemi Firouzabadi; Kimia Kahrizi; Iman Bagherizadeh; Hossein Najmabadi; Susan Bint; Caroline Ogilvie
M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.
European journal of medical genetics 2008;51(6):608-14.
2008: Anoosh Naghavi; Carla Nishimura; Kimia Kahrizi; Yasser Riazalhosseini; Niloofar Bazazzadegan; Marzieh Mohseni; Richard J H Smith; Hossein Najmabadi
GJB2 mutations in Baluchi population.
Journal of genetics 2008;87(2):195-7.
2008: Bahareh Shojasaffar; Neda Moradin; Kimia Kahrizi; Ana Maria Cobo; Hossein Najmabadi
CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008;35(2):216-9.
2008: Masoud Garshasbi; Valeh Hadavi; Haleh Habibi; Kimia Kahrizi; Roxana Kariminejad; Farkhondeh Behjati; Andreas Tzschach; Hossein Najmabadi; Hans-Hilger Ropers; Andreas W Kuss
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
American journal of human genetics 2008;82(5):1158-64.
2008: Lia Abbasi Moheb; Andreas Tzschach; Masoud Garshasbi; Kimia Kahrizi; Hossein Darvish; Yaser Heshmati; Ali Reza Pouya; Hossein Najmabadi; Hans-Hilger Ropers; Andreas W Kuss
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
European journal of human genetics : EJHG 2008;16(2):270-3.
2008: Ali Ramazani; Kimia Kahrizi; Maryam Razaghiazar; Nejat Mahdieh; Paul Koppens
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
Iranian biomedical journal 2008;12(1):49-53.
2007: Mohammad Mahdi Motazacker; Benjamin Rainer Rost; Tim B Hucho; Masoud Garshasbi; Kimia Kahrizi; Reinhard Ullmann; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saeid Hosseini Amini; Chandan Goswami; Andreas Tzschach; Lars Riff Jensen; Dietmar Schmitz; Hans-Hilger Ropers; Hossein Najmabadi; Andreas W Kuss
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
American journal of human genetics 2007;81(4):792-8.
2007: Nicole C Meyer; Fatemeh Alasti; Carla Nishimura; Parisa Imanirad; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Nafiseh Kochakian; Payman Jamali; Guy Van Camp; Richard J H Smith; Hossein Najmabadi
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
American journal of medical genetics. Part A 2007;143A(14):1623-9.
2007: Mohammad Mahdi Motazacker; Elahe Taherzadeh-Fard; Zohreh Husseini; Farkhondeh Behjati; Fatemehsadat Esteghamat; Kimia Kahrizi; Hossein Najmabadi
The Iranian human mutation database.
Archives of Iranian medicine 2007;10(3):372-5.
2007: Yuzhou Zhang; Mahdi Malekpour; Navid Al-Madani; Kimia Kahrizi; Marvam Zanganeh; Naomi J Lohr; Marzieh Mohseni; Faezeh Mojahedi; Ahmad Daneshi; Hossein Najmabadi; Richard J H Smith
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
Journal of medical genetics 2007;44(4):233-40.
2007: Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; masoom falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars Riff Jensen; Franz Rüschendorf; Andreas W Kuss; Hans-Hilger Ropers
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Human genetics 2007;121(1):43-8.
2007: Lut Van Laer; Nicole C Meyer; Mahdi Malekpour; Yasser Riazalhosseini; Mahdi Moghannibashi; Kimia Kahrizi; Ann Vandevelde; Fatemeh Alasti; Hossein Najmabadi; Guy Van Camp; Richard J H Smith
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Journal of human genetics 2007;52(6):549-52.
2006: Masoud Garshasbi; Mohammad Mahdi Motazacker; Kimia Kahrizi; Farkhondeh Behjati; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saghar Ghasemi Firouzabadi; Christian Becker; Franz Rüschendorf; Peter Nürnberg; Andreas Tzschach; Reza Vazifehmand; Fikret Erdogan; Reinhard Ullmann; Steffen Lenzner; Andreas W Kuss; Hans-Hilger Ropers; Hossein Najmabadi
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Human genetics 2006;118(6):708-15.
2005: Wei Chen; Kimia Kahrizi; Nicole C Meyer; Yasser Riazalhosseini; Guy Van Camp; Hossein Najmabadi; R J H Smith
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
Journal of medical genetics 2005;42(10):e61.
2005: Hossein Najmabadi; Carla Nishimura; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Ahmad Daneshi; Mohammad Farhadi; Marzieh Mohseni; Nejat Mahdieh; Ahmad Ebrahimi; Niloofar Bazazzadegan; Anoosh Naghavi; Matthew Avenarius; Sanaz Arzhangi; Richard J H Smith
GJB2 mutations: passage through Iran.
American journal of medical genetics. Part A 2005;133A(2):132-7.
2004: Babak Moghimi; Majid yavarian; Christian Oberkanins; saeed saeed amini; Shohreh Khatami; Soghra Rouhi; Kimia Kahrizi; Hossein Najmabadi
Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran.
Hemoglobin 2004;28(4):353-6.
2003: Maryam Neishabury; Christian Oberkanins; Lia Abbasi Moheb; Ali Akbar Pourfatholuah; Kimia Kahrizi; Elahe Keyhany; Walter Krugluger; Hossein Najmabadi
High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran.
Hemoglobin 2003;27(1):53-5.
2003: Hossein Najmabadi; Maryam Neishabury; Farhad Sahebjam; Kimia Kahrizi; Yousef Shafaghati; Nushin Nikzat; Maryam Jalalvand; Farahnaz Aminy; Susan Bany Hashemi; Babak Moghimi; Ali Reza Noorian; Ali Jannati; Mehrdad Mohammadi; Khalil Javan
The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research.
Human mutation 2003;21(2):146-50.
2002: Hossein Najmabadi; Robert A Cucci; Solmaz Sahebjam; Nafiseh Kouchakian; Mohammad Farhadi; Kimia Kahrizi; Sanaz Arzhangi; Naiimeh Daneshmandan; Khalil Javan; Richard J H Smith
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
Human mutation 2002;19(5):572.