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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2002 5
2003 4
2004 2
2005 9
2006 11
2007 12
2008 10
2009 9
2010 15
2011 16
2012 18
2013 17
2014 11
2015 17
2016 11
2017 17
2018 14
2019 14
2020 15
2021 16
2022 14
2023 13
2024 9

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236 results

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Page 1
Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis.
Boudhabhay I, Poillerat V, Grunenwald A, Torset C, Leon J, Daugan MV, Lucibello F, El Karoui K, Ydee A, Chauvet S, Girardie P, Sacks S, Farrar CA, Garred P, Berthaud R, Le Quintrec M, Rabant M, de Lonlay P, Rambaud C, Gnemmi V, Fremeaux-Bacchi V, Frimat M, Roumenina LT. Boudhabhay I, et al. Among authors: de lonlay p. Kidney Int. 2021 Mar;99(3):581-597. doi: 10.1016/j.kint.2020.09.033. Epub 2020 Nov 1. Kidney Int. 2021. PMID: 33137339 Free article.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: de lonlay p. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Congenital hyperinsulinism.
Barthlen W, de Lonlay P. Barthlen W, et al. Among authors: de lonlay p. Semin Pediatr Surg. 2011 Feb;20(1):1-2. doi: 10.1053/j.sempedsurg.2010.10.001. Semin Pediatr Surg. 2011. PMID: 21185996 No abstract available.
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. Among authors: de lonlay p. 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.
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. Among authors: de lonlay p. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
Neonatal hypoglycaemia: aetiologies.
de Lonlay P, Giurgea I, Touati G, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2004 Feb;9(1):49-58. doi: 10.1016/j.siny.2003.08.002. Semin Neonatol. 2004. PMID: 15013475 Review.
Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. Semin Neonatol. 2002. PMID: 12069542 Review.
Acute rhabdomyolysis and inflammation.
Hamel Y, Mamoune A, Mauvais FX, Habarou F, Lallement L, Romero NB, Ottolenghi C, de Lonlay P. Hamel Y, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2015 Jul;38(4):621-8. doi: 10.1007/s10545-015-9827-7. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778939 Review.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. François-Heude MC, et al. Among authors: de lonlay p. Eur J Neurol. 2022 Nov;29(11):3229-3242. doi: 10.1111/ene.15515. Epub 2022 Aug 9. Eur J Neurol. 2022. PMID: 36200804 Free article.
236 results