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Page 1
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, Coulet F, Doco-Fenzy M, Keren B, Le Marechal C, Nicolas G, Procaccio V, Richard P, Romanet P, Snanoudj S, Muller J, Krahn M, Saugier-Veber P. Gorokhova S, et al. Among authors: coulet f. Med Sci (Paris). 2024 Oct;40(10):767-769. doi: 10.1051/medsci/2024104. Epub 2024 Oct 25. Med Sci (Paris). 2024. PMID: 39450962 French. No abstract available.
Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation.
Jonchère V, Montémont H, Le Scanf E, Siret A, Letourneur Q, Tubacher E, Battail C, Fall A, Labreche K, Renault V, Ratovomanana T, Buhard O, Jolly A, Le Rouzic P, Feys C, Despras E, Zouali H, Nicolle R, Cervera P, Svrcek M, Bourgoin P, Blanché H, Boland A, Lefèvre J, Parc Y, Touat M, Bielle F, Arzur D, Cueff G, Le Jossic-Corcos C, Quéré G, Dujardin G, Blondel M, Le Maréchal C, Cohen R, André T, Coulet F, de la Grange P, de Reyniès A, Fléjou JF, Renaud F, Alentorn A, Corcos L, Deleuze JF, Collura A, Duval A. Jonchère V, et al. Among authors: coulet f. Genome Biol. 2024 Aug 6;25(1):210. doi: 10.1186/s13059-024-03340-5. Genome Biol. 2024. PMID: 39107855 Free PMC article.
Cholangiocarcinomes avancés et gènes de fusion.
Mas L, Perrier A, Coulet F, Bachet JB. Mas L, et al. Among authors: coulet f. Bull Cancer. 2022 Nov;109(11S):11S28-11S34. doi: 10.1016/S0007-4551(22)00466-0. Bull Cancer. 2022. PMID: 36535760 Review. French.
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: coulet f. Clin Genet. 2024 Jul;106(1):90-94. doi: 10.1111/cge.14515. Epub 2024 Feb 29. Clin Genet. 2024. PMID: 38424388
Next-Generation-Sequencing on fine needle aspirates in neck recurrence of thyroid cancers.
Theodon H, Guillerm E, Wassermann J, Deniziaut G, Jaffrelot L, Denis JA, Chereau N, Bigorgne C, Potonnier W, Coulet F, Leenhardt L, Buffet C. Theodon H, et al. Among authors: coulet f. Eur Thyroid J. 2024 Jan 1;13(1):e230164. doi: 10.1530/ETJ-23-0164. Online ahead of print. Eur Thyroid J. 2024. PMID: 38236745 Free PMC article.
Epstein-Barr virus and immune status imprint the immunogenomics of non-Hodgkin lymphomas occurring in immune-suppressed environments.
Baron M, Labreche K, Veyri M, Désiré N, Bouzidi A, Seck-Thiam F, Charlotte F, Rousseau A, Morin V, Nakid-Cordero C, Abbar B, Picca A, Le Cann M, Balegroune N, Gauthier N, Theodorou I, Touat M, Morel V, Bielle F, Samri A, Alentorn A, Sanson M, Roos-Weil D, Haioun C, Poullot E, De Septenville AL, Davi F, Guihot A, Boelle PY, Leblond V, Coulet F, Spano JP, Choquet S, Autran B. Baron M, et al. Among authors: coulet f. Haematologica. 2024 Nov 1;109(11):3615-3630. doi: 10.3324/haematol.2023.284332. Haematologica. 2024. PMID: 38841782 Free PMC article.
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Eichstaedt CA, Maldonado-Velez G, Machado RD, Balachandar S, Coulet F, Day K, Dooijes D, Eyries M, Gräf S, Macaya D, Shaukat M, Southgate L, Tenorio-Castano J, Chung WK, Welch CL, Aldred MA. Eichstaedt CA, et al. Among authors: coulet f. medRxiv [Preprint]. 2024 Nov 26:2024.11.24.24317862. doi: 10.1101/2024.11.24.24317862. medRxiv. 2024. PMID: 39649591 Free PMC article. Preprint.
Performance of the AmpliSeq NGS Panel in Thyroid Nodules with Indeterminate Cytology.
Potonnier W, Guillerm E, Bigorgne C, Ghander C, Roy M, Coulet F, Ansart F, Menegaux F, Leenhardt L, Brocheriou I, Deniziaut G, Buffet C. Potonnier W, et al. Among authors: coulet f. Eur Thyroid J. 2024 Dec 1:ETJ-24-0160. doi: 10.1530/ETJ-24-0160. Online ahead of print. Eur Thyroid J. 2024. PMID: 39637043 Free article.
Pulmonary hypertension in patients carrying FLNA loss-of-function variants.
Stourm L, Grynblat J, Savale L, Lacoste-Palasset T, Jaïs X, Coulet F, Levy M, Meyrignac O, Ghigna MR, Cottin V, Sitbon O, Bonnet D, Goupil F, Humbert M, Gagnadoux F, Montani D; French PH Network PULMOTENSION Investigators. Stourm L, et al. Among authors: coulet f. Eur Respir J. 2024 Nov 7:2401132. doi: 10.1183/13993003.01132-2024. Online ahead of print. Eur Respir J. 2024. PMID: 39510553
161 results