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Page 1
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Sidali S, Borie R, Sicre de Fontbrune F, El Husseini K, Rautou PE, Lainey E, Goria O, Crestani B, Cadranel J, Cottin V, Bunel V, Dumortier J, Jacquemin E, Reboux N, Hirschi S, Bourdin A, Meszaros M, Dharancy S, Hilaire S, Mallet V, Reynaud-Gaubert M, Terriou L, Gottrand F, Abou Chahla W, Khan JE, Carrier P, Saliba F, Rubbia-Brandt L, Aubert JD, Elkrief L, de Lédinghen V, Abergel A, Olivier T, Houssel P, Jouneau S, Wemeau L, Bergeron A, Leblanc T, Ollivier-Hourmand I, Nguyen Khac E, Morisse-Pradier H, Ba I, Boileau C, Roudot-Thoraval F, Vilgrain V, Bureau C, Nunes H, Naccache JM, Durand F, Francoz C, Roulot D, Valla D, Paradis V, Kannengiesser C, Plessier A. Sidali S, et al. Among authors: jacquemin e. Hepatology. 2024 Jun 1;79(6):1365-1380. doi: 10.1097/HEP.0000000000000667. Epub 2023 Nov 6. Hepatology. 2024. PMID: 37934624
Increased incidence of seronegative autoimmune hepatitis in children during SARS-CoV-2 pandemia period.
Schmutz M, Chartier S, Leblanc T, Mussini C, Gardin A, Gonzales E, Roque-Afonso AM, Le Cam S, Hery G, Neven B, Charbel R, Vartanian JP, Jacquemin E, Morelle G, Almes M. Schmutz M, et al. Among authors: jacquemin e. Front Immunol. 2024 Sep 11;15:1445610. doi: 10.3389/fimmu.2024.1445610. eCollection 2024. Front Immunol. 2024. PMID: 39328418 Free PMC article.
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E, Gardin A, Almes M, Darmellah-Remil A, Seguin H, Mussini C, Franchi-Abella S, Duché M, Ackermann O, Thébaut A, Habes D, Hermeziu B, Lapalus M, Falguières T, Combal JP, Benichou B, Valero S, Davit-Spraul A, Jacquemin E. Gonzales E, et al. Among authors: jacquemin e. JHEP Rep. 2023 Jul 13;5(10):100844. doi: 10.1016/j.jhepr.2023.100844. eCollection 2023 Oct. JHEP Rep. 2023. PMID: 37701337 Free PMC article.
Disrupted BMP-9 Signaling Impairs Pulmonary Vascular Integrity in Hepatopulmonary Syndrome.
Robert F, Certain MC, Baron A, Thuillet R, Duhaut L, Ottaviani M, Chelgham MK, Normand C, Berrebeh N, Ricard N, Furlan V, Desroches-Castan A, Gonzales E, Jacquemin E, Sitbon O, Humbert M, Bailly S, Coilly A, Guignabert C, Tu L, Savale L. Robert F, et al. Among authors: jacquemin e. Am J Respir Crit Care Med. 2024 Sep 1;210(5):648-661. doi: 10.1164/rccm.202307-1289OC. Am J Respir Crit Care Med. 2024. PMID: 38626313
Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma.
Roehrig A, Hirsch TZ, Pire A, Morcrette G, Gupta B, Marcaillou C, Imbeaud S, Chardot C, Gonzales E, Jacquemin E, Sekiguchi M, Takita J, Nagae G, Hiyama E, Guérin F, Fabre M, Aerts I, Taque S, Laithier V, Branchereau S, Guettier C, Brugières L, Fresneau B, Zucman-Rossi J, Letouzé E. Roehrig A, et al. Among authors: jacquemin e. Nat Commun. 2024 Apr 8;15(1):3031. doi: 10.1038/s41467-024-47280-x. Nat Commun. 2024. PMID: 38589411 Free PMC article.
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.
PLCG2 Mutation in a Patient Presenting with Type 2 Autoimmune Hepatitis.
Gardin A, Gaigne L, Magérus A, Rieux-Laucat F, Jacquemin E. Gardin A, et al. Among authors: jacquemin e. J Clin Transl Hepatol. 2024 Jul 28;12(7):685-687. doi: 10.14218/JCTH.2024.00124. Epub 2024 May 28. J Clin Transl Hepatol. 2024. PMID: 38993509 Free PMC article.
257 results