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Page 1
Molecular mechanisms of neonatal hyperinsulinism.
Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P. Giurgea I, et al. Among authors: hubert l. Horm Res. 2006;66(6):289-96. doi: 10.1159/000095938. Epub 2006 Sep 26. Horm Res. 2006. PMID: 17003566 Free article. Review.
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
Giurgea I, Sempoux C, Bellanné-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fékété C, de Lonlay P. Giurgea I, et al. Among authors: hubert l. J Clin Endocrinol Metab. 2006 Oct;91(10):4118-23. doi: 10.1210/jc.2006-0397. Epub 2006 Aug 1. J Clin Endocrinol Metab. 2006. PMID: 16882742
Congenital hyperinsulinism and mosaic abnormalities of the ploidy.
Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellanné-Chantelot C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fékété C, Vekemans M, Junien C, de Lonlay P. Giurgea I, et al. Among authors: hubert l. J Med Genet. 2006 Mar;43(3):248-54. doi: 10.1136/jmg.2005.034116. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033916 Free PMC article.
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F. Damaj L, et al. Among authors: hubert l. J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. doi: 10.1210/jc.2008-0673. Epub 2008 Sep 16. J Clin Endocrinol Metab. 2008. PMID: 18796520
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Brassier A, et al. Among authors: hubert l. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1. Mol Genet Metab. 2013. PMID: 23478190
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N. Hully M, et al. Among authors: hubert l. Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10. Neurogenetics. 2017. PMID: 27726050
166 results