Found: 7

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  • A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 6, p. 915, doi. 10.1111/cge.13730
    By:
    • Kariminejad, Ariana;
    • Ghaderi‐Sohi, Siavash;
    • Keshavarz, Elham;
    • Hashemi, Seyed Abolghasem;
    • Parsimehr, Elham;
    • Szenker‐Ravi, Emmanuelle;
    • Khatoo, Muznah;
    • Faraji Zonooz, Mehrshid;
    • Reversade, Bruno;
    • Najmabadi, Hossein;
    • Hennekam, Raoul C.
    Publication type:
    Article

  • Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
    By:
    • Beheshtian, Maryam;
    • Fattahi, Zohreh;
    • Fadaee, Mahsa;
    • Vazehan, Raheleh;
    • Jamali, Payman;
    • Parsimehr, Elham;
    • Kamgar, Mahboubeh;
    • Zonooz, Mehrshid Faraji;
    • Mahdavi, Shokouh Sadat;
    • Kalhor, Zahra;
    • Arzhangi, Sanaz;
    • Abedini, Seyedeh Sedigheh;
    • Kermani, Farahnaz Sabbagh;
    • Mojahedi, Faezeh;
    • Kalscheuer, Vera M.;
    • Ropers, Hans‐Hilger.;
    • Kariminejad, Ariana;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia
    Publication type:
    Article

  • CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.

    Published in:
    Archives of Iranian Medicine (AIM), 2021, v. 24, n. 5, p. 364, doi. 10.34172/aim.2021.53
    By:
    • Khoshbakht, Shahrouz;
    • Beheshtian, Maryam;
    • Fattahi, Zohreh;
    • Bazazzadegan, Niloofar;
    • Parsimehr, Elham;
    • Fadaee, Mahsa;
    • Vazehan, Raheleh;
    • Zonooz, Mehrshid Faraji;
    • Abolhassani, Ayda;
    • Makvand, Mina;
    • Kariminejad, Ariana;
    • Celik, Arzu;
    • Kahrizi, Kimia;
    • Najmabadi, Hossein
    Publication type:
    Article

  • De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

    Published in:
    Archives of Iranian Medicine (AIM), 2017, v. 20, n. 9, p. 617
    By:
    • Edizadeh, Masoud;
    • Vazehan, Raheleh;
    • Javadi, Fatemeh;
    • Dehdahsi, Shima;
    • Fadaee, Mahsa;
    • Zonooz, Mehrshid Faraji;
    • Parsimehr, Elham;
    • Ahangari, Fatemeh;
    • Abolhassani, Ayda;
    • Kalhor, Zahra;
    • Fattahi, Zohreh;
    • Beheshtian, Maryam;
    • Kariminejad, Ariana;
    • Akbari, Mohammad Reza;
    • Najmabadi, Hossein;
    • Nafissi, Shariar
    Publication type:
    Article

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

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
    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
    Publication type:
    Article

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

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
    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
    Publication type:
    Article

  • Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1547, doi. 10.1002/ajmg.a.61260
    By:
    • Kariminejad, Ariana;
    • Vahidnezhad, Hassan;
    • Ghaderi‐Sohi, Siavash;
    • Ghannadan, Ali R.;
    • Youssefian, Leila;
    • Parsimehr, Elham;
    • Faraji Zonooz, Mehrshid;
    • Kariminejad, Mohammad H.;
    • Uitto, Jouni;
    • Najmabadi, Hossein;
    • Hennekam, Raoul C.
    Publication type:
    Article