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Year Number of Results
2004 1
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2007 4
2008 1
2010 1
2011 3
2012 2
2013 2
2014 1
2015 1
2017 3
2018 5
2019 8
2020 16
2021 22
2022 17
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111 results

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Page 1
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Among authors: garcelon n. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Natural history of Myhre syndrome.
Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V. Yang DD, et al. Among authors: garcelon n. Orphanet J Rare Dis. 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. Orphanet J Rare Dis. 2022. PMID: 35907855 Free PMC article.
Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes.
Polivka L, Madrange M, Bulai-Livideanu C, Barete S, Ballul T, Neuraz A, Greco C, Agopian J, Brenet F, Dubreuil P, Burdet C, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Gourguechon C, Damaj G, Frenzel L, Meni C, Bouktit H, Collange AF, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Hamidou M, Neel A, Ranta D, Jaussaud R, Guilpain P, Canioni D, Molina TJ, Bruneau J, Lhermitte L, Garcelon N, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Heiblig M, Dimicoli-Salazar S, Torregrosa-Diaz JM, Soria A, Arock M, Lortholary O, Bodemer C, Hermine O, Rossignol J; CEREMAST network. Polivka L, et al. Among authors: garcelon n. J Allergy Clin Immunol. 2024 Jan;153(1):349-353.e4. doi: 10.1016/j.jaci.2023.08.015. Epub 2023 Aug 24. J Allergy Clin Immunol. 2024. PMID: 37633651 Free article.
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.
Bloch C, Jais JP, Gil M, Boubaya M, Lepelletier Y, Bader-Meunier B, Mahlaoui N, Garcelon N, Lambotte O, Launay D, Larroche C, Lazaro E, Liffermann F, Lortholary O, Michel M, Michot JM, Morel P, Cheminant M, Suarez F, Terriou L, Urbanski G, Viallard JF, Alcais A, Fischer A, de Saint Basile G, Hermine O; French HLH Study Group. Bloch C, et al. Among authors: garcelon n. J Allergy Clin Immunol. 2024 Jan;153(1):256-264. doi: 10.1016/j.jaci.2023.07.023. Epub 2023 Sep 9. J Allergy Clin Immunol. 2024. PMID: 37678575 Free article.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: garcelon n. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Hyperventilation syndrome in children with asthma.
Beauvais M, Taam RA, Neuraz A, Le Bourgeois M, Delacourt C, Faour H, Garcelon N, Lezmi G. Beauvais M, et al. Among authors: garcelon n. J Asthma. 2023 Nov;60(11):1987-1996. doi: 10.1080/02770903.2023.2206903. Epub 2023 May 31. J Asthma. 2023. PMID: 37092722
Hemorrhage Expansion After Pediatric Intracerebral Hemorrhage.
Boulouis G, Hak JF, Kerleroux B, Benichi S, Stricker S, Gariel F, Alias Q, Bourgeois M, Meyer P, Kossorotoff M, Garzelli L, Garcelon N, Boddaert N, Morotti A, Blauwblomme T, Naggara O. Boulouis G, et al. Among authors: garcelon n. Stroke. 2021 Jan;52(2):588-594. doi: 10.1161/STROKEAHA.120.030592. Epub 2021 Jan 11. Stroke. 2021. PMID: 33423517
Diagnosis support systems for rare diseases: a scoping review.
Faviez C, Chen X, Garcelon N, Neuraz A, Knebelmann B, Salomon R, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. Among authors: garcelon n. Orphanet J Rare Dis. 2020 Apr 16;15(1):94. doi: 10.1186/s13023-020-01374-z. Orphanet J Rare Dis. 2020. PMID: 32299466 Free PMC article. Review.
111 results