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Page 1
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: bourgeois v. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A; Orphanomix Physician’s Group; Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C. Tran Mau-Them F, et al. Among authors: bourgeois v. Mol Genet Genomic Med. 2021 Dec;9(12):e1836. doi: 10.1002/mgg3.1836. Epub 2021 Oct 30. Mol Genet Genomic Med. 2021. PMID: 34716697 Free PMC article.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Mazel B, Mallet D, Roucher-Boulez F, Signor CB, Bournez M, Darmency V, Bourgeois V, Poe C, El Khabbaz F, Vitobello A, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L, Nambot S. Mazel B, et al. Among authors: bourgeois v. Am J Med Genet A. 2022 Dec;188(12):3540-3545. doi: 10.1002/ajmg.a.62966. Epub 2022 Sep 9. Am J Med Genet A. 2022. PMID: 36082874
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A. Colin E, et al. Among authors: bourgeois v. Front Cell Dev Biol. 2022 Oct 28;10:1021785. doi: 10.3389/fcell.2022.1021785. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36393831 Free PMC article.
Impact of interferon on a triple positive polycythemia vera.
Campario H, Mosca M, Aral B, Bourgeois V, Martin P, Brustel A, Filser M, Marzac C, Plo I, Girodon F. Campario H, et al. Among authors: bourgeois v. Leukemia. 2020 Apr;34(4):1210-1212. doi: 10.1038/s41375-019-0636-0. Epub 2019 Nov 14. Leukemia. 2020. PMID: 31728058 No abstract available.
Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
Geay A, Aral B, Bourgeois V, Martin P, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F. Geay A, et al. Among authors: bourgeois v. Clin Case Rep. 2020 Mar 21;8(5):790-792. doi: 10.1002/ccr3.2720. eCollection 2020 May. Clin Case Rep. 2020. PMID: 32477518 Free PMC article.
High HFE mutation incidence in idiopathic erythrocytosis.
Burlet B, Bourgeois V, Buriller C, Aral B, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F. Burlet B, et al. Among authors: bourgeois v. Br J Haematol. 2019 May;185(4):794-795. doi: 10.1111/bjh.15631. Epub 2018 Nov 8. Br J Haematol. 2019. PMID: 30407617 Free article. No abstract available.
Early palliative care and overall survival in patients with metastatic upper gastrointestinal cancers (EPIC): a multicentre, open-label, randomised controlled phase 3 trial.
Adenis A, Da Silva A, Ben Abdelghani M, Bourgeois V, Bogart E, Turpin A, Evin A, Proux A, Galais MP, Jaraudias C, Quintin J, Bouquet G, Samalin E, Bremaud N, Javed S, Henry A, Kurtz JE, Cornuault-Foubert D, Vandamme H, Lucchi E, Pannier D, Belletier C, Paul M, Touzet L, Penel N, Chvetzoff G, Le Deley MC. Adenis A, et al. Among authors: bourgeois v. EClinicalMedicine. 2024 Jun 28;74:102470. doi: 10.1016/j.eclinm.2024.102470. eCollection 2024 Aug. EClinicalMedicine. 2024. PMID: 39526177 Free PMC article.
Clinico-biological factors predicting the benefit of the LV5FU2 maintenance strategy as a first-line therapy in patients with metastatic pancreatic cancer.
Boisteau E, Dahan L, Williet N, Le Malicot K, Desramé J, Bouché O, Petorin C, Malka D, Rebischung C, Aparicio T, Lecaille C, Rinaldi Y, Turpin A, Bignon AL, Bachet JB, Lepage C, Granger V, Legoux JL, Deplanque G, Baconnier M, Lecomte T, Bonnet I, Seitz JF, François E, Lièvre A; PRODIGE 35 Investigator/Collaborators. Boisteau E, et al. Oncologist. 2024 Sep 6;29(9):e1149-e1158. doi: 10.1093/oncolo/oyae079. Oncologist. 2024. PMID: 39235326 Free PMC article. Clinical Trial.
How to Balance Prognostic Factors in Controlled Phase II Trials: Stratified Permuted Block Randomization or Minimization? An Analysis of Clinical Trials in Digestive Oncology.
Martin E, Le Malicot K, Guérin-Charbonnel C, Bocquet F, Bouché O, Turpin A, Aparicio T, Legoux JL, Dahan L, Taieb J, Lepage C, Dourthe LM, Pétorin C, Bourgeois V, Raoul JL, Seegers V. Martin E, et al. Among authors: bourgeois v. Curr Oncol. 2024 Jun 17;31(6):3513-3528. doi: 10.3390/curroncol31060259. Curr Oncol. 2024. PMID: 38920742 Free PMC article.
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