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Year Number of Results
2010 2
2011 5
2012 5
2013 3
2014 1
2015 8
2016 5
2017 7
2018 3
2019 1
2020 10
2021 10
2022 13
2023 11
2024 4

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78 results

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Page 1
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergadá I, Bhatti T, Conwell LS, Fu JF, 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. 2023 Jul 14. doi: 10.1159/000531766. Online ahead of print. Horm Res Paediatr. 2023. PMID: 37454648 Free 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.
KATP channel mutations in congenital hyperinsulinism.
Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C. Saint-Martin C, et al. Among authors: arnoux jb. Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012. Semin Pediatr Surg. 2011. PMID: 21185999 Review.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: arnoux jb. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data.
Charrière S, Maillot F, Bouée S, Douillard C, Jacob C, Schneider KM, Theil J, Arnoux JB. Charrière S, et al. Among authors: arnoux jb. Mol Genet Metab. 2023 Jul;139(3):107625. doi: 10.1016/j.ymgme.2023.107625. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37329624 Free article.
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, Colella P, Lamazière A, Brassier A, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. Among authors: arnoux jb. J Inherit Metab Dis. 2024 Jan;47(1):41-49. doi: 10.1002/jimd.12604. Epub 2023 Mar 15. J Inherit Metab Dis. 2024. PMID: 36880392
Congenital hyperinsulinism: current trends in diagnosis and therapy.
Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanné-Chantelot C, de Lonlay P. Arnoux JB, et al. Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63. Orphanet J Rare Dis. 2011. PMID: 21967988 Free PMC article. Review.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D. Lefèvre CR, et al. Among authors: arnoux jb. Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006. Int J Neonatal Screen. 2023. PMID: 36810318 Free PMC article. Review.
[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.
78 results