Below are the most recent publications written about "Syndrome" by people in Profiles.
-
Grigorenko AP, Protasova MS, Lisenkova AA, Reshetov DA, Andreeva TV, Garcias GL, Martino Roth MDG, Papassotiropoulos A, Rogaev EI. Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect. Cells. 2022 01 25; 11(3).
-
Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. Mol Cell. 2022 01 06; 82(1):90-105.e13.
-
Sterrett MC, Enyenihi L, Leung SW, Hess L, Strassler SE, Farchi D, Lee RS, Withers ES, Kremsky I, Baker RE, Basrai MA, van Hoof A, Fasken MB, Corbett AH. A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. RNA. 2021 09; 27(9):1046-1067.
-
Abbott MA, Diebold WJ, Rosengren SS. Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):219-223.
-
Robilliard R, Caylan M. Infantile presentation of 3q26.33-3q27.2 deletion syndrome. BMJ Case Rep. 2020 Nov 30; 13(11).
-
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
-
Barash JA, Whitledge J, Watson CJ, Boyle K, Lim C, Lev MH, DeMaria A, Ganetsky M. Opioid-associated amnestic syndrome: Description of the syndrome and validation of a proposed definition. J Neurol Sci. 2020 Oct 15; 417:117048.
-
Woods SW, Bearden CE, Sabb FW, Stone WS, Torous J, Cornblatt BA, Perkins DO, Cadenhead KS, Addington J, Powers AR, Mathalon DH, Calkins ME, Wolf DH, Corcoran CM, Horton LE, Mittal VA, Schiffman J, Ellman LM, Strauss GP, Mamah D, Choi J, Pearlson GD, Shah JL, Fusar-Poli P, Arango C, Perez J, Koutsouleris N, Wang J, Kwon JS, Walsh BC, McGlashan TH, Hyman SE, Gur RE, Cannon TD, Kane JM, Anticevic A. Counterpoint. Early intervention for psychosis risk syndromes: Minimizing risk and maximizing benefit. Schizophr Res. 2021 01; 227:10-17.
-
Stemple K, DeWitt KM, Porter BA, Sheeser M, Blohm E, Bisanzo M. High-dose nitroglycerin infusion for the management of sympathetic crashing acute pulmonary edema (SCAPE): A case series. Am J Emerg Med. 2021 06; 44:262-266.
-
Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K. Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. Pediatrics. 2020 02; 145(2).