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Page 1
CLOVES Syndrome.
Kanji A, Cobben J, Laguda B. Kanji A, et al. JAMA Dermatol. 2023 Jun 1;159(6):659-660. doi: 10.1001/jamadermatol.2022.6180. JAMA Dermatol. 2023. PMID: 37017999
Hypotension-Avoidance Versus Hypertension-Avoidance Strategies in Noncardiac Surgery : An International Randomized Controlled Trial.
Marcucci M, Painter TW, Conen D, Lomivorotov V, Sessler DI, Chan MTV, Borges FK, Leslie K, Duceppe E, Martínez-Zapata MJ, Wang CY, Xavier D, Ofori SN, Wang MK, Efremov S, Landoni G, Kleinlugtenbelt YV, Szczeklik W, Schmartz D, Garg AX, Short TG, Wittmann M, Meyhoff CS, Amir M, Torres D, Patel A, Ruetzler K, Parlow JL, Tandon V, Fleischmann E, Polanczyk CA, Lamy A, Jayaram R, Astrakov SV, Wu WKK, Cheong CC, Ayad S, Kirov M, de Nadal M, Likhvantsev VV, Paniagua P, Aguado HJ, Maheshwari K, Whitlock RP, McGillion MH, Vincent J, Copland I, Balasubramanian K, Biccard BM, Srinathan S, Ismoilov S, Pettit S, Stillo D, Kurz A, Belley-Côté EP, Spence J, McIntyre WF, Bangdiwala SI, Guyatt G, Yusuf S, Devereaux PJ; POISE-3 Trial Investigators and Study Groups. Marcucci M, et al. Ann Intern Med. 2023 May;176(5):605-614. doi: 10.7326/M22-3157. Epub 2023 Apr 25. Ann Intern Med. 2023. PMID: 37094336 Clinical Trial.
SHORT syndrome with microcephaly and developmental delay.
Patel V, Cui W, Cobben JM. Patel V, et al. Among authors: cobben jm. Am J Med Genet A. 2023 Mar;191(3):850-854. doi: 10.1002/ajmg.a.63078. Epub 2022 Dec 14. Am J Med Genet A. 2023. PMID: 36515361 Review.
Tranexamic Acid in Patients Undergoing Noncardiac Surgery.
Devereaux PJ, Marcucci M, Painter TW, Conen D, Lomivorotov V, Sessler DI, Chan MTV, Borges FK, Martínez-Zapata MJ, Wang CY, Xavier D, Ofori SN, Wang MK, Efremov S, Landoni G, Kleinlugtenbelt YV, Szczeklik W, Schmartz D, Garg AX, Short TG, Wittmann M, Meyhoff CS, Amir M, Torres D, Patel A, Duceppe E, Ruetzler K, Parlow JL, Tandon V, Fleischmann E, Polanczyk CA, Lamy A, Astrakov SV, Rao M, Wu WKK, Bhatt K, de Nadal M, Likhvantsev VV, Paniagua P, Aguado HJ, Whitlock RP, McGillion MH, Prystajecky M, Vincent J, Eikelboom J, Copland I, Balasubramanian K, Turan A, Bangdiwala SI, Stillo D, Gross PL, Cafaro T, Alfonsi P, Roshanov PS, Belley-Côté EP, Spence J, Richards T, VanHelder T, McIntyre W, Guyatt G, Yusuf S, Leslie K; POISE-3 Investigators. Devereaux PJ, et al. N Engl J Med. 2022 May 26;386(21):1986-1997. doi: 10.1056/NEJMoa2201171. Epub 2022 Apr 2. N Engl J Med. 2022. PMID: 35363452 Clinical Trial.
Accelerated Surgery Versus Standard Care in Hip Fracture (HIP ATTACK-1): A Kidney Substudy of a Randomized Clinical Trial.
Borges FK, Devereaux PJ, Cuerden M, Sontrop JM, Bhandari M, Guerra-Farfán E, Patel A, Sigamani A, Umer M, Neary J, Tiboni M, Tandon V, Ramokgopa MT, Sancheti P, Lawendy AR, Balaguer-Castro M, Jenkinson R, Ślęczka P, Nur AN, Wood GCA, Feibel RJ, McMahon JS, Biccard BM, Ortalda A, Szczeklik W, Wang CY, Tomás-Hernández J, Vincent J, Harvey V, Pettit S, Balasubramanian K, Slobogean G, Garg AX; HIP ATTACK-1 Investigators. Borges FK, et al. Am J Kidney Dis. 2022 Nov;80(5):686-689. doi: 10.1053/j.ajkd.2022.01.431. Epub 2022 Mar 26. Am J Kidney Dis. 2022. PMID: 35346742 Clinical Trial. No abstract available.
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA, Sampson JR, Suri M, Gardham A, Cobben JM, Osio D, Fry AE; Genomics England Research Consortium; Taylor JC. Ragoussis V, et al. Among authors: cobben jm. J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5. J Med Genet. 2022. PMID: 33547136 Free PMC article. No abstract available.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: cobben jm. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
134 results