A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
SCHRAUWEN, Isabelle, HELFMANN, Sarah, DHEEDENE, Annelies, CLAES, Charlotte, FRANSEN, Erik, HASHEMZADEH CHALESHTORI, Morteza, COUCKE, Paul, LEE, Amy, MOSER, Tobias, VAN CAMP, Guy, INAGAKI, Akira, PREDOEHL, Friederike, AMIN TABATABAIEFAR, Mohammad, MAGDALENA PICHER, Maria, SOMMEN, Manou, ZAZO SECO, Celia, OOSTRIK, Jaap, KREMER, Hannie
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature
Khorrami, Mehdi, Tabatabaiefar, Mohammad Amin, Khorram, Erfan, Yaghini, Omid, Rezaei, Mojgan, Hejazifar, Arash, Riahinezhad, Maryam, Kheirollahi, Majid
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing
Zarepour, Narges, Koohiyan, Mahbobeh, Taghipour-Sheshdeh, Afsaneh, Nemati-Zargaran, Fatemeh, Saki, Nader, Mohammadi-Asl, Javad, Tabatabaiefar, Mohammad Amin, Hashemzadeh-Chaleshtori, Morteza
Published in Audiology & neurotology (01.01.2019)
Published in Audiology & neurotology (01.01.2019)
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Journal Article
Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome
Sobhani, Maryam, Amin Tabatabaiefar, Mohammad, Ghafouri-Fard, Soudeh, Rajab, Asadollah, Mozafarpour, Sarah, Nasrniya, Samaneh, Kajbafzadeh, Abdol-Mohammad, Noori-Daloii, Mohammad Reza
Published in Endocrine (01.11.2019)
Published in Endocrine (01.11.2019)
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Journal Article
A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family
Koohiyan, Mahbobeh, Noori-Daloii, Mohammad Reza, Hashemzadeh-Chaleshtori, Morteza, Salehi, Mansoor, Abtahi, Hamidreza, Tabatabaiefar, Mohammad Amin
Published in Audiology & neurotology (2019)
Published in Audiology & neurotology (2019)
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Journal Article
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23
Koohiyan, Mahbobeh, Hashemzadeh-Chaleshtori, Morteza, Salehi, Mansoor, Abtahi, Hamidreza, Noori-Daloii, Mohammad Reza, Tabatabaiefar, Mohammad Amin
Published in Audiology & neurotology (2020)
Published in Audiology & neurotology (2020)
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Journal Article
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
Shakarami, Fatemeh, Nouri, Zahra, Khanahmad, Hossein, Ghazavi, Mohamadreza, Tabatabaiefar, Mohammad Amin
Published in Journal of genetics (08.09.2023)
Published in Journal of genetics (08.09.2023)
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Journal Article
Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation
Ataei, Zahra, Nouri, Zahra, Tavakoli, Farial, Pourreza, Mohammad Reza, Narrei, Sina, Tabatabaiefar, Mohammad Amin
Published in PloS one (27.02.2023)
Published in PloS one (27.02.2023)
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Journal Article
The Importance of SNPs at miRNA Binding Sites as Biomarkers of Gastric and Colorectal Cancers: A Systematic Review
Hajibabaie, Fatemeh, Abedpoor, Navid, Assareh, Nazanin, Tabatabaiefar, Mohammad Amin, Shariati, Laleh, Zarrabi, Ali
Published in Journal of personalized medicine (14.03.2022)
Published in Journal of personalized medicine (14.03.2022)
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Journal Article
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
Nouri, Zahra, Sarmadi, Akram, Narrei, Sina, Kianersi, Hamidreza, Kianersi, Farzan, Tabatabaiefar, Mohammad Amin
Published in BMC medical genomics (01.07.2024)
Published in BMC medical genomics (01.07.2024)
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Journal Article
Inducing indel mutation in the SOX6 gene by zinc finger nuclease for gamma reactivation: An approach towards gene therapy of beta thalassemia
Modares Sadeghi, Mehran, Shariati, Laleh, Hejazi, Zahra, Shahbazi, Mansoureh, Tabatabaiefar, Mohammad Amin, Khanahmad, Hossein
Published in Journal of cellular biochemistry (01.03.2018)
Published in Journal of cellular biochemistry (01.03.2018)
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Journal Article
Epigenetics and Common Non Communicable Disease
Tabatabaiefar, Mohammad Amin, Sajjadi, Roshanak S, Narrei, Sina
Published in Advances in experimental medicine and biology (01.01.2019)
Published in Advances in experimental medicine and biology (01.01.2019)
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Journal Article
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems
Mir, Atefeh, Song, Yongjun, Lee, Hane, Nadeali, Zakiye, Tabatabaiefar, Mohammad Amin
Published in Molecular genetics & genomic medicine (01.01.2024)
Published in Molecular genetics & genomic medicine (01.01.2024)
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Journal Article
The role of epigenetics in the induction of fetal hemoglobin: a combination therapy approach
Ahmadvand, Mohammad, Noruzinia, Mehrdad, Fard, Ali Dehghani, Zohour, Mostafa Montazer, Tabatabaiefar, Mohammad Amin, Soleimani, Masoud, Kaviani, Saeid, Abroun, Saeid, Beiranvand, Sahar, Saki, Najmaldin
Published in International journal of hematology- oncology and stem cell research (01.01.2014)
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Published in International journal of hematology- oncology and stem cell research (01.01.2014)
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A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency
Hoseinzadeh, Marziyeh, Molavi, Newsha, Norouzi, Mahnaz, Aghaei, Shahrzad, Zeinalian, Mehrdad, Hashemipour, Mahin, Tabatabaiefar, Mohammad Amin
Published in Laboratory medicine (05.07.2023)
Published in Laboratory medicine (05.07.2023)
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Journal Article
Engineered zinc‐finger nuclease to generate site‐directed modification in the KLF1 gene for fetal hemoglobin induction
Shariati, Laleh, Modarressi, Mohammad Hossein, Tabatabaiefar, Mohammad Amin, Kouhpayeh, Shirin, Hejazi, Zahra, Shahbazi, Mansoureh, Sabzehei, Faezeh, Salehi, Mansoor, Khanahmad, Hossein
Published in Journal of cellular biochemistry (01.05.2019)
Published in Journal of cellular biochemistry (01.05.2019)
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Journal Article
Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss
Sarmadi, Akram, Nasrniya, Samane, Narrei, Sina, Nouri, Zahra, Abtahi, Hamidreza, Tabatabaiefar, Mohammad Amin
Published in Molecular biology reports (01.07.2020)
Published in Molecular biology reports (01.07.2020)
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