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Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.
El Khouri E, Ghoumid J, Haye D, Giuliano F, Drevillon L, Briand-Suleau A, De La Grange P, Nau V, Gaillon T, Bienvenu T, Jacquemin-Sablon H, Goossens M, Amselem S, Giurgea I. El Khouri E, et al. Among authors: giurgea i. Mol Psychiatry. 2021 Jul;26(7):3572-3585. doi: 10.1038/s41380-021-01072-7. Epub 2021 Apr 19. Mol Psychiatry. 2021. PMID: 33867523
TCF4 deletions in Pitt-Hopkins Syndrome.
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A. Giurgea I, et al. Hum Mutat. 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. Hum Mutat. 2008. PMID: 18781613
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: giurgea i. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Among authors: giurgea i. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: giurgea i. Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422940 Free PMC article.
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I. Ghoumid J, et al. Among authors: giurgea i. Hum Mol Genet. 2013 Jul 1;22(13):2652-61. doi: 10.1093/hmg/ddt114. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23466526
SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.
Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, Métay C. Briand-Suleau A, et al. Among authors: giurgea i. Eur J Med Genet. 2014 Mar;57(4):174-80. doi: 10.1016/j.ejmg.2013.12.013. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486774 Free article.
Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.
Awad F, Assrawi E, Jumeau C, Georgin-Lavialle S, Cobret L, Duquesnoy P, Piterboth W, Thomas L, Stankovic-Stojanovic K, Louvrier C, Giurgea I, Grateau G, Amselem S, Karabina SA. Awad F, et al. Among authors: giurgea i. PLoS One. 2017 Apr 12;12(4):e0175336. doi: 10.1371/journal.pone.0175336. eCollection 2017. PLoS One. 2017. PMID: 28403163 Free PMC article.
88 results