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FOXP1-related intellectual disability syndrome: a recognisable entity.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. Meerschaut I, et al. Among authors: mekahli d. J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735298
Simplified screening criteria for HNF1B analysis.
Raaijmakers AA, Mekahli D, Levtchenko EN. Raaijmakers AA, et al. Among authors: mekahli d. Kidney Int. 2015 Jun;87(6):1258-9. doi: 10.1038/ki.2015.49. Kidney Int. 2015. PMID: 26024028 Free article. No abstract available.
Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
Mekahli D, Decuypere JP, Sammels E, Welkenhuyzen K, Schoeber J, Audrezet MP, Corvelyn A, Dechênes G, Ong AC, Wilmer MJ, van den Heuvel L, Bultynck G, Parys JB, Missiaen L, Levtchenko E, De Smedt H. Mekahli D, et al. Pflugers Arch. 2014 Aug;466(8):1591-604. doi: 10.1007/s00424-013-1394-x. Epub 2013 Nov 6. Pflugers Arch. 2014. PMID: 24193408
An unusual presentation of Denys-Drash syndrome due to bigenic disease.
Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E. Eneman B, et al. Among authors: mekahli d. Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30. Pediatrics. 2014. PMID: 24379226
Charcot-Marie-Tooth: are you testing for proteinuria?
De Rechter S, De Waele L, Levtchenko E, Mekahli D. De Rechter S, et al. Among authors: mekahli d. Eur J Paediatr Neurol. 2015 Jan;19(1):1-5. doi: 10.1016/j.ejpn.2014.08.004. Epub 2014 Aug 28. Eur J Paediatr Neurol. 2015. PMID: 25439738 Review.
124 results