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Page 1
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C. Aubart M, et al. Among authors: desguerre i. Eur J Hum Genet. 2018 Dec;26(12):1759-1772. doi: 10.1038/s41431-018-0164-9. Epub 2018 Aug 7. Eur J Hum Genet. 2018. PMID: 30087447 Free PMC article.
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Viollet L, et al. Among authors: desguerre i. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Gitiaux C, et al. Among authors: desguerre i. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830228 Free PMC article.
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N. Poirier K, et al. Among authors: desguerre i. Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5. Eur J Hum Genet. 2013. PMID: 22948023 Free PMC article.
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T. Thomas S, et al. Among authors: desguerre i. Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138100 Free PMC article.
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: desguerre i. 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
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: desguerre i. 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.
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
Masliah-Planchon J, Lévy D, Héron D, Giuliano F, Badens C, Fréneaux P, Galmiche L, Guinebretierre JM, Cellier C, Waterfall JJ, Aït-Raïs K, Pierron G, Glorion C, Desguerre I, Soler C, Deville A, Delattre O, Michon J, Bourdeaut F. Masliah-Planchon J, et al. Among authors: desguerre i. Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706636 Free PMC article.
311 results