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Associations of Urine and Plasma Metabolites with Kidney Failure and Death in a CKD Cohort.
Steinbrenner I, Schultheiss UT, Bächle H, Cheng Y, Behning C, Schmid M, Yeo WJ, Yu B, Grams ME, Schlosser P, Stockmann H, Gronwald W, Oefner PJ, Schaeffner E, Eckardt KU, Köttgen A, Sekula P; GCKD Investigators. Steinbrenner I, et al. Am J Kidney Dis. 2024 May 28:S0272-6386(24)00787-X. doi: 10.1053/j.ajkd.2024.03.028. Online ahead of print. Am J Kidney Dis. 2024. PMID: 38815646
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: reis a. Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38815585
The trajectory of head circumference and neurodevelopment in very preterm newborns during the first two years of life: a cohort study.
Villela LD, Mayrink MLS, Méio MDBB, Soares FVM, de Abranches AD, Nehab SRG, Reis ABR, Barros LBP, de Rodrigues MCC, Junior SG, Moreira MEL. Villela LD, et al. Among authors: reis abr. J Pediatr (Rio J). 2024 May 25:S0021-7557(24)00067-6. doi: 10.1016/j.jped.2024.04.005. Online ahead of print. J Pediatr (Rio J). 2024. PMID: 38806152 Free article.
3,304 results