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Page 1
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. Guissart C, et al. Among authors: deleuze jf. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656859 Free PMC article.
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Among authors: deleuze jf. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: deleuze jf. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 Free PMC article.
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A. Coutelier M, et al. Among authors: deleuze jf. Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3. Neurology. 2015. PMID: 25841024
Rare ACTG1 variants in fetal microlissencephaly.
Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N. Poirier K, et al. Among authors: deleuze jf. Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16. Eur J Med Genet. 2015. PMID: 26188271
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Among authors: deleuze jf. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. Guimier A, et al. Among authors: deleuze jf. Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437028 Free PMC article.
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.
David S, Ferreira J, Quenez O, Rovelet-Lecrux A, Richard AC, Vérin M, Jurici S, Le Ber I, Boland A, Deleuze JF, Frebourg T, Mendes de Oliveira JR, Hannequin D, Campion D, Nicolas G. David S, et al. Among authors: deleuze jf. Eur J Hum Genet. 2016 Nov;24(11):1630-1634. doi: 10.1038/ejhg.2016.50. Epub 2016 Jun 1. Eur J Hum Genet. 2016. PMID: 27245298 Free PMC article.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: deleuze jf. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
472 results