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Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Thomson G, Filser M, Guerrini-Rousseau L, Tauziede-Espariat A, Bourneix C, Gauthier-Villars M, Simaga F, Beccaria K, Faure-Conter C, Maureille A, Zattara-Cannoni H, Andre N, Entz-Werle N, Brugieres L, Mansuy L, Denizeau P, Julia S, Ingster O, Lejeune S, Brahimi A, Coupier I, Bonadona V, Delattre O, Masliah-Planchon J, Bourdeaut F. Thomson G, et al. Among authors: julia s. Neuro Oncol. 2024 Nov 4;26(11):2102-2112. doi: 10.1093/neuonc/noae122. Neuro Oncol. 2024. PMID: 39093628
Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.
Droin-Mollard M, de Montgolfier S, Gimenez-Roqueplo AP, Flahault C, Petit A, Bourdeaut F, Julia S, Rial-Sebbag E, Coupier I, Simaga F, Brugières L, Guerrini-Rousseau L, Claret B, Cavé H, Strullu M, Hervouet L, Lahlou-Laforêt K. Droin-Mollard M, et al. Among authors: julia s. Eur J Hum Genet. 2024 Nov;32(11):1446-1455. doi: 10.1038/s41431-024-01653-4. Epub 2024 Jul 13. Eur J Hum Genet. 2024. PMID: 38997469 Free PMC article.
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Among authors: julia s. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 Free PMC article.
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C. Thomas H, et al. Among authors: julia s. J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. J Med Genet. 2024. PMID: 38937076 Free article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 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. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
91 results