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Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.
Mohsenpour N, Roknizadeh H, Maghbooli M, Changi-Ashtiani M, Shahrooei M, Salehi M, Behnam M, Shahani T, Biglari A. Mohsenpour N, et al. Among authors: changi ashtiani m. Int J Mol Cell Med. 2019 Summer;8(3):169-178. doi: 10.22088/IJMCM.BUMS.8.3.169. Int J Mol Cell Med. 2019. PMID: 32489946 Free PMC article.
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
Nabavi M, Shahrooei M, Rokni-Zadeh H, Vrancken J, Changi-Ashtiani M, Darabi K, Manian M, Seif F, Meyts I, Voet A, Moens L, Bossuyt X. Nabavi M, et al. J Clin Immunol. 2019 Feb;39(2):138-141. doi: 10.1007/s10875-019-00599-3. Epub 2019 Feb 22. J Clin Immunol. 2019. PMID: 30796585 No abstract available.
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
Kalayinia S, Maleki M, Rokni-Zadeh H, Changi-Ashtiani M, Ahangar H, Biglari A, Shahani T, Mahdieh N. Kalayinia S, et al. J Clin Lab Anal. 2019 Sep;33(7):e22923. doi: 10.1002/jcla.22923. Epub 2019 May 22. J Clin Lab Anal. 2019. PMID: 31115957 Free PMC article.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.
Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, Shirkani A, Changi-Ashtiani M, Rokni-Zadeh H, Sayar EH, Reisli I, Lefevre-Utile A, Zijlmans D, Jurado A, Pholien R, Drutman S, Belkaya S, Cobat A, Boudewijns R, Jochmans D, Neyts J, Seeleuthner Y, Lorenzo-Diaz L, Enemchukwu C, Tietjen I, Hoffmann HH, Momenilandi M, Pöyhönen L, Siqueira MM, de Lima SMB, de Souza Matos DC, Homma A, Maia MLS, da Costa Barros TA, de Oliveira PMN, Mesquita EC, Gijsbers R, Zhang SY, Seligman SJ, Abel L, Hertzog P, Marr N, Martins RM, Meyts I, Zhang Q, MacDonald MR, Rice CM, Casanova JL, Jouanguy E, Bossuyt X. Hernandez N, et al. J Exp Med. 2019 Sep 2;216(9):2057-2070. doi: 10.1084/jem.20182295. Epub 2019 Jul 3. J Exp Med. 2019. PMID: 31270247 Free PMC article.
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.
Talebi T, Biglari A, Shahroeei M, Changi-Ashtiani M, Dinmohammadi H, Navabi SS, Parvaneh N, Bossuyt X, Shahani T, Rokni-Zadeh H. Talebi T, et al. Among authors: changi ashtiani m. Iran J Allergy Asthma Immunol. 2020 Feb 1;19(1):94-101. doi: 10.18502/ijaai.v19i1.2422. Iran J Allergy Asthma Immunol. 2020. PMID: 32245326 Free article.
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.
Aghebati-Maleki A, Shahani T, Momen T, Alyasin S, Changi-Ashtiani M, Biglari A, Shahrooei M, Javanian AS, Amini S, Bossuyt X, Rokni-Zadeh H. Aghebati-Maleki A, et al. Among authors: changi ashtiani m. Iran J Allergy Asthma Immunol. 2020 Apr 16;19(2):193-199. doi: 10.18502/ijaai.v19i2.2772. Iran J Allergy Asthma Immunol. 2020. PMID: 32372632 Free article.
16 results