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Page 1
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P. Nizon M, et al. Among authors: boddaert n. Mitochondrion. 2014 Mar;15:59-64. doi: 10.1016/j.mito.2014.01.003. Epub 2014 Jan 22. Mitochondrion. 2014. PMID: 24462778
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
de Lonlay P, Simon-Carre A, Ribeiro MJ, Boddaert N, Giurgea I, Laborde K, Bellanné-Chantelot C, Verkarre V, Polak M, Rahier J, Syrota A, Seidenwurm D, Nihoul-Fékété C, Robert JJ, Brunelle F, Jaubert F. de Lonlay P, et al. Among authors: boddaert n. J Clin Endocrinol Metab. 2006 Mar;91(3):933-40. doi: 10.1210/jc.2005-1713. Epub 2006 Jan 10. J Clin Endocrinol Metab. 2006. PMID: 16403819
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: boddaert n. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: boddaert n. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.
Unusual magnetic resonance imaging features in Menkes disease.
Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N. Barnerias C, et al. Among authors: boddaert n. Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Brain Dev. 2008. PMID: 18243619
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Mollet J, et al. Among authors: boddaert n. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. Am J Hum Genet. 2008. PMID: 18319072 Free PMC article.
480 results