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Page 1
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Goodkey K, Wischmeijer A, Perrin L, Watson AES, Qureshi L, Cordelli DM, Toni F, Gnazzo M, Benedicenti F, Elmaleh-Bergès M, Low KJ, Voronova A. Goodkey K, et al. Among authors: perrin l. BMC Med. 2024 Apr 15;22(1):158. doi: 10.1186/s12916-024-03363-6. BMC Med. 2024. PMID: 38616269 Free PMC article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. Among authors: perrin l. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Sabbagh Q, et al. Among authors: perrin l. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860968
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, Benusiglio PR. Gerasimenko A, et al. Among authors: perrin l. Clin Genet. 2024 Jul;106(1):90-94. doi: 10.1111/cge.14515. Epub 2024 Feb 29. Clin Genet. 2024. PMID: 38424388
Blood MMP-9 measured at 2 years after lung transplantation as a prognostic biomarker of chronic lung allograft dysfunction.
Tissot A, Durand E, Goronflot T, Coiffard B, Renaud-Picard B, Roux A, Demant X, Mornex JF, Falque L, Salpin M, Le Pavec J, Villeneuve T, Boussaud V, Knoop C, Magnan A, Lair D, Berthelot L, Danger R, Brouard S; COLT consortium. Tissot A, et al. Respir Res. 2024 Feb 9;25(1):88. doi: 10.1186/s12931-024-02707-3. Respir Res. 2024. PMID: 38336710 Free PMC article.
Author Correction: Mortality outcomes with hydroxychloroquine and chloroquine in COVID-19 from an international collaborative meta-analysis of randomized trials.
Axfors C, Schmitt AM, Janiaud P, Van't Hooft J, Abd-Elsalam S, Abdo EF, Abella BS, Akram J, Amaravadi RK, Angus DC, Arabi YM, Azhar S, Baden LR, Baker AW, Belkhir L, Benfield T, Berrevoets MAH, Chen CP, Chen TC, Cheng SH, Cheng CY, Chung WS, Cohen YZ, Cowan LN, Dalgard O, de Almeida E Val FF, de Lacerda MVG, de Melo GC, Derde L, Dubee V, Elfakir A, Gordon AC, Hernandez-Cardenas CM, Hills T, Hoepelman AIM, Huang YW, Igau B, Jin R, Jurado-Camacho F, Khan KS, Kremsner PG, Kreuels B, Kuo CY, Le T, Lin YC, Lin WP, Lin TH, Lyngbakken MN, McArthur C, McVerry BJ, Meza-Meneses P, Monteiro WM, Morpeth SC, Mourad A, Mulligan MJ, Murthy S, Naggie S, Narayanasamy S, Nichol A, Novack LA, O'Brien SM, Okeke NL, Perez L, Perez-Padilla R, Perrin L, Remigio-Luna A, Rivera-Martinez NE, Rockhold FW, Rodriguez-Llamazares S, Rolfe R, Rosa R, Røsjø H, Sampaio VS, Seto TB, Shahzad M, Soliman S, Stout JE, Thirion-Romero I, Troxel AB, Tseng TY, Turner NA, Ulrich RJ, Walsh SR, Webb SA, Weehuizen JM, Velinova M, Wong HL, Wrenn R, Zampieri FG, Zhong W, Moher D, Goodman SN, Ioannidis JPA, Hemkens LG. Axfors C, et al. Among authors: perrin l. Nat Commun. 2024 Feb 5;15(1):1075. doi: 10.1038/s41467-024-45360-6. Nat Commun. 2024. PMID: 38316844 Free PMC article. No abstract available.
[Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers].
Strullu M, Cousin E, de Montgolfier S, Fenwarth L, Gachard N, Arnoux I, Duployez N, Girard S, Guilmatre A, Lafage M, Loosveld M, Petit A, Perrin L, Vial Y, Saultier P. Strullu M, et al. Among authors: perrin l. Bull Cancer. 2024 Mar;111(3):291-309. doi: 10.1016/j.bulcan.2023.11.011. Epub 2024 Jan 23. Bull Cancer. 2024. PMID: 38267311 French.
760 results