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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 1
2004 1
2006 3
2007 2
2008 2
2009 2
2010 5
2011 3
2012 4
2013 10
2014 7
2015 6
2016 4
2017 5
2018 3
2019 6
2020 6
2021 1
2023 2

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64 results

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Page 1
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.
Andelfinger G, Marquis C, Raboisson MJ, Théoret Y, Waldmüller S, Wiegand G, Gelb BD, Zenker M, Delrue MA, Hofbeck M. Andelfinger G, et al. Among authors: delrue ma. J Am Coll Cardiol. 2019 May 7;73(17):2237-2239. doi: 10.1016/j.jacc.2019.01.066. J Am Coll Cardiol. 2019. PMID: 31047013 Free PMC article. No abstract available.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. Among authors: delrue ma. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: delrue ma. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: delrue ma. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
Fat chance: genetic syndromes with obesity.
Delrue MA, Michaud JL. Delrue MA, et al. Clin Genet. 2004 Aug;66(2):83-93. doi: 10.1111/j.0009-9163.2004.00300.x. Clin Genet. 2004. PMID: 15253756 Review.
Costello syndrome and neurological abnormalities.
Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS, Goldstein A, Mathieu H, Miranda V, Morali B, Santerre J, Maftei C, Delrue MA, Schmittbuhl M, Vu DD, Moldovan F, Campeau PM. Wredenhagen MS, et al. Among authors: delrue ma. PNAS Nexus. 2023 Jun 14;2(6):pgad196. doi: 10.1093/pnasnexus/pgad196. eCollection 2023 Jun. PNAS Nexus. 2023. PMID: 37361548 Free PMC article.
64 results