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Page 1
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: hashemi gorji f. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series.
Ghasemi MR, Zargari P, Sadeghi H, Bagheri S, Sadeghgi B, Mirfakhraie R, Ekrami M, Mohammadi Sarvaleh S, Hashemi Gorji F, Razjouyan K, Omrani D, Kim HG, Miryounesi M. Ghasemi MR, et al. Among authors: hashemi gorji f. Iran J Child Neurol. 2022 Spring;16(2):117-128. doi: 10.22037/ijcn.v16i4.34843. Epub 2022 Mar 14. Iran J Child Neurol. 2022. PMID: 35497098 Free PMC article.
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Norouzi Rostami F, Sadeghi H, Hashemi-Gorji F, Tehrani Fateh S, Mirfakhraie R, Karimzadeh P, Davarpanah M, Jamshidi S, Madannejad R, Moghimi P, Ekrami M, Miryounesi M, Ghasemi MR. Norouzi Rostami F, et al. Among authors: hashemi gorji f. Heliyon. 2024 Mar 6;10(6):e27434. doi: 10.1016/j.heliyon.2024.e27434. eCollection 2024 Mar 30. Heliyon. 2024. PMID: 38501011 Free PMC article.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, Rezaei M, Hashemi-Gorji F, Rezvani Kashani M, Fazeli Bavandpour F, Bagheri S, Moghimi P, Rostami M, Madannejad R, Roudgari H, Miryounesi M. Ghasemi MR, et al. Among authors: hashemi gorji f. BMC Med Genomics. 2024 Feb 13;17(1):51. doi: 10.1186/s12920-024-01810-0. BMC Med Genomics. 2024. PMID: 38347586 Free PMC article.
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Tehrani Fateh S, Mohammad Zadeh N, Salehpour S, Hashemi-Gorji F, Omidi A, Sadeghi H, Mirfakhraie R, Moghimi P, Keyvanfar S, Mohammadi Sarvaleh S, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: hashemi gorji f. BMC Med Genomics. 2024 Jan 12;17(1):20. doi: 10.1186/s12920-024-01798-7. BMC Med Genomics. 2024. PMID: 38216990 Free PMC article. Review.
35 results