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Page 1
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B, Giurgea I. Mary L, et al. Among authors: giurgea i. Eur J Hum Genet. 2018 Jul;26(7):996-1006. doi: 10.1038/s41431-018-0096-4. Epub 2018 Apr 26. Eur J Hum Genet. 2018. PMID: 29695756 Free PMC article.
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: giurgea i. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. Smol T, et al. Among authors: giurgea i. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
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.
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Lebrun N, Giurgea I, Goldenberg A, Dieux A, Afenjar A, Ghoumid J, Diebold B, Mietton L, Briand-Suleau A, Billuart P, Bienvenu T. Lebrun N, et al. Among authors: giurgea i. Eur J Hum Genet. 2018 Jan;26(1):107-116. doi: 10.1038/s41431-017-0033-y. Epub 2017 Dec 4. Eur J Hum Genet. 2018. PMID: 29203834 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
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study; Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Ragge N, et al. Among authors: giurgea i. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4. Hum Genet. 2019. PMID: 29974297 Free article.
91 results