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

Year Number of Results
2004 1
2006 1
2007 2
2010 1
2011 3
2012 2
2013 2
2014 1
2017 3
2018 5
2019 8
2020 16
2021 22
2022 17
2023 16
2024 9

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97 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.
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.
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.
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study.
Semeraro M, Fouquet C, Vial Y, Amiel J, Galmiche L, Cretolle C, Blanc T, Jolaine V, Garcelon N, Entz-Werle N, Pellier I, Vérité C, Sophie Taque, Coulomb A, Petit A, Corradini N, Bouazza N, Lacour B, Clavel J, Brugières L, Bourdeaut F, Sarnacki S; members of the TED Consortium. Semeraro M, et al. Among authors: garcelon n. J Pediatr. 2023 Aug;259:113451. doi: 10.1016/j.jpeds.2023.113451. Epub 2023 May 9. J Pediatr. 2023. PMID: 37169337
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
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: garcelon n. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.
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.
97 results