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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Among authors: dobrzeniecka s. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Capo-Chichi JM, et al. Among authors: dobrzeniecka s. J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3. J Med Genet. 2015. PMID: 25650066
Intellectual disability without epilepsy associated with STXBP1 disruption.
Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: dobrzeniecka s. Eur J Hum Genet. 2011 May;19(5):607-9. doi: 10.1038/ejhg.2010.183. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364700 Free PMC article.
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
Capo-Chichi JM, Tcherkezian J, Hamdan FF, Décarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, Michaud JL. Capo-Chichi JM, et al. Among authors: dobrzeniecka s. J Med Genet. 2013 Nov;50(11):740-4. doi: 10.1136/jmedgenet-2013-101680. Epub 2013 May 17. J Med Genet. 2013. PMID: 23687350
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Tucker T, et al. Among authors: dobrzeniecka s. Eur J Hum Genet. 2014 Jun;22(6):792-800. doi: 10.1038/ejhg.2013.248. Epub 2013 Nov 20. Eur J Hum Genet. 2014. PMID: 24253858 Free PMC article.
No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.
Hamdan FF, Gauthier J, Pellerin S, Dobrzeniecka S, Marineau C, Fombonne E, Mottron L, Lafrenière RG, Drapeau P, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: dobrzeniecka s. Arch Neurol. 2009 May;66(5):675-6. doi: 10.1001/archneurol.2009.65. Arch Neurol. 2009. PMID: 19433673 No abstract available.
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL. Srour M, et al. Among authors: dobrzeniecka s. Am J Hum Genet. 2013 Oct 3;93(4):765-72. doi: 10.1016/j.ajhg.2013.08.014. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075189 Free PMC article.
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: dobrzeniecka s. Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15. Biol Psychiatry. 2011. PMID: 21237447
25 results