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A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Akoury E, El Zir E, Mansour A, Mégarbané A, Majewski J, Slim R. Akoury E, et al. Among authors: slim r. Ophthalmic Genet. 2011 Nov;32(4):245-9. doi: 10.3109/13816810.2011.587083. Epub 2011 Jun 15. Ophthalmic Genet. 2011. PMID: 21675857
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Ahmadpour F, Touitou I, Fardaei M, Slim R. Reddy R, et al. Among authors: slim r. Eur J Hum Genet. 2016 Oct;24(10):1445-52. doi: 10.1038/ejhg.2016.9. Epub 2016 Mar 9. Eur J Hum Genet. 2016. PMID: 26956250 Free PMC article.
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R. Nguyen NMP, et al. Among authors: slim r. Am J Hum Genet. 2018 Nov 1;103(5):740-751. doi: 10.1016/j.ajhg.2018.10.007. Am J Hum Genet. 2018. PMID: 30388401 Free PMC article.
The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.
Aguinaga M, Rezaei M, Monroy I, Mechtouf N, Pérez J, Moreno E, Valdespino Y, Galaz C, Razo G, Medina D, Piña R, Slim R. Aguinaga M, et al. Among authors: slim r. J Assist Reprod Genet. 2021 Jul;38(7):1879-1886. doi: 10.1007/s10815-021-02132-1. Epub 2021 Mar 22. J Assist Reprod Genet. 2021. PMID: 33751332 Free PMC article.
234 results