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Year Number of Results
2005 1
2008 1
2009 2
2010 4
2011 6
2012 6
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2016 5
2017 8
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2020 11
2021 12
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108 results

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Page 1
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS. De Leon DD, et al. Among authors: arnoux jb. Horm Res Paediatr. 2024;97(3):279-298. doi: 10.1159/000531766. Epub 2023 Jul 14. Horm Res Paediatr. 2024. PMID: 37454648 Free PMC article.
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: arnoux jb. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
Congenital hyperinsulinism.
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M; International Congenital Hyperinsulinism Consortium; Mohnike K, Arnoux JB, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE. Bennett JJ, et al. Among authors: arnoux jb. Genome Med. 2025 Mar 3;17(1):17. doi: 10.1186/s13073-025-01440-w. Genome Med. 2025. PMID: 40033430 Free PMC article.
[Ewing's tumor].
Taylor M, Guillon M, Champion V, Marcu M, Arnoux JB, Hartmann O. Taylor M, et al. Among authors: arnoux jb. Arch Pediatr. 2005 Sep;12(9):1383-91. doi: 10.1016/j.arcped.2005.05.014. Arch Pediatr. 2005. PMID: 16046110 Review. French.
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
Dupuy G, Roux CJ, Barrois R, Imbard A, Pontoizeau C, Dangles MT, Aubart M, Arnoux JB, Margoses D, Brassier A, Marbach C, Bérat CM, Sarda E, Gitiaux C, de Lonlay P, Boddaert N, Schiff M, Desguerre I. Dupuy G, et al. Among authors: arnoux jb. Eur J Paediatr Neurol. 2024 May;50:6-15. doi: 10.1016/j.ejpn.2024.02.013. Epub 2024 Feb 26. Eur J Paediatr Neurol. 2024. PMID: 38520815
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ; KAMPER investigators. Feillet F, et al. Among authors: arnoux jb. J Inherit Metab Dis. 2025 Jan;48(1):e12796. doi: 10.1002/jimd.12796. Epub 2024 Sep 5. J Inherit Metab Dis. 2025. PMID: 39237321 Free PMC article.
[New developments in neonatal screening].
Michel M, Cheillan D, Nguyen-Khoa T, Lachambre S, de Lonlay P, Arnoux JB, Courapied S, Khemiri A. Michel M, et al. Among authors: arnoux jb. Rev Prat. 2023 Dec;73(10):1119-1123. Rev Prat. 2023. PMID: 38294483 French.
Richner-Hanhart syndrome (tyrosinemia type II).
Locatelli F, Puzenat E, Arnoux JB, Blanc D, Aubin F. Locatelli F, et al. Among authors: arnoux jb. Cutis. 2017 Dec;100(6):E20-E22. Cutis. 2017. PMID: 29360903 No abstract available.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: arnoux jb. J Inherit Metab Dis. 2024 Jul;47(4):636-650. doi: 10.1002/jimd.12724. Epub 2024 Mar 3. J Inherit Metab Dis. 2024. PMID: 38433424
108 results