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597 results

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Page 1
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: gerard m. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 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: gerard m. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, Conrad S, Crivelli L, Monin P, Fert-Ferrer S, Mortemousque I, Raad S, Lacombe D, Caux F, Sevenet N, Bubien V, Longy M; French Cowden Disease Network. Margot H, et al. J Med Genet. 2024 Nov 25;61(12):1071-1079. doi: 10.1136/jmg-2024-109982. J Med Genet. 2024. PMID: 39358013
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, Barbarot S, Aubert H, Bodet D, Bourrat E, Chiaverini C, Poujade L, Willems M, Rouanet J, Dompmartin-Blanchère A, Geneviève D, Gerard M, Ginglinger E, Hadj-Rabia S, Martin L, Mazereeuw-Hautier J, Bibas N, Molinari N, Herman F, Phan A, Rod J, Roger H, Sigaudy S, Ziegler A, Vial Y, Verloes A, Cavé H, Lacombe D. Bessis D, et al. Among authors: gerard m. J Eur Acad Dermatol Venereol. 2024 Sep;38(9):1818-1827. doi: 10.1111/jdv.19996. Epub 2024 Apr 10. J Eur Acad Dermatol Venereol. 2024. PMID: 38595321
Examining individual- versus population-level social determinants of health in a cluster randomized trial of health coaches for patients with multiple chronic conditions.
Charlson ME, Wells MT, Hollenberg J, Ramos R, Martinez GM, Gerard MJ, Cassells A, Lin TJ, Mittleman I, Eggleston A, Tobin JN. Charlson ME, et al. Among authors: gerard mj. J Clin Transl Sci. 2024 Nov 6;8(1):e191. doi: 10.1017/cts.2024.598. eCollection 2024. J Clin Transl Sci. 2024. PMID: 39655003 Free PMC article.
Intensive therapeutic education strategy for patients with acute heart failure (EduStra-HF): Design of a randomized controlled trial.
Jullien S, Lang S, Gerard M, Soulat-Dufour L, Brito E, Ocokoljic E, Laperche T, Georges JL, Diakov C, Belliard O, Larrazet F, Bataille S, Assyag P, Cohen A; EduStra-HF investigators. Jullien S, et al. Among authors: gerard m. Arch Cardiovasc Dis. 2024 Oct;117(10):561-568. doi: 10.1016/j.acvd.2024.04.006. Epub 2024 Jul 4. Arch Cardiovasc Dis. 2024. PMID: 39089896
597 results