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Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Dehnavi AZ, et al. Among authors: garshasbi m. Orphanet J Rare Dis. 2023 Jul 17;18(1):190. doi: 10.1186/s13023-023-02794-3. Orphanet J Rare Dis. 2023. PMID: 37461050 Free PMC article. No abstract available.
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.
Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H. Iqbal Z, et al. Among authors: garshasbi m. Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173967 Free PMC article.
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW. Walczak-Sztulpa J, et al. Among authors: garshasbi m. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493458 Free PMC article.
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW. Abbasi-Moheb L, et al. Among authors: garshasbi m. Am J Hum Genet. 2012 May 4;90(5):847-55. doi: 10.1016/j.ajhg.2012.03.021. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541559 Free PMC article.
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Kuss AW, et al. Among authors: garshasbi m. Hum Genet. 2011 Feb;129(2):141-8. doi: 10.1007/s00439-010-0907-3. Epub 2010 Nov 10. Hum Genet. 2011. PMID: 21063731
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Hilger Ropers H, Galjart N, Najmabadi H. Larti F, et al. Among authors: garshasbi m. Eur J Hum Genet. 2015 Mar;23(3):416. doi: 10.1038/ejhg.2014.152. Eur J Hum Genet. 2015. PMID: 25672248 Free PMC article. No abstract available.
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Rafiq MA, et al. Among authors: garshasbi m. Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Am J Hum Genet. 2011. PMID: 21763484 Free PMC article.
152 results