Below are the most recent publications written about "Chromosome Deletion" by people in Profiles.
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Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044.
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Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, Raychaudhuri S, Hirschhorn JN, Gusella JF, Talkowski ME, Church GM. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243.
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Robilliard R, Caylan M. Infantile presentation of 3q26.33-3q27.2 deletion syndrome. BMJ Case Rep. 2020 Nov 30; 13(11).
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Kaufman JL, Dimopoulos MA, White D, Benboubker L, Cook G, Leiba M, Morton J, Joy Ho P, Kim K, Takezako N, Moreau P, Sutherland HJ, Magen H, Iida S, Kim JS, Miles Prince H, Cochrane T, Oriol A, Bahlis NJ, Chari A, O'Rourke L, Trivedi S, Casneuf T, Krevvata M, Ukropec J, Kobos R, Avet-Loiseau H, Usmani SZ, San-Miguel J. Daratumumab, lenalidomide, and dexamethasone in relapsed/refractory myeloma: a cytogenetic subgroup analysis of POLLUX. Blood Cancer J. 2020 11 03; 10(11):111.
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Kohlenberg TM, Trelles MP, McLarney B, Betancur C, Thurm A, Kolevzon A. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. J Neurodev Disord. 2020 02 12; 12(1):7.
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Di Nunno V, Mollica V, Brunelli M, Gatto L, Schiavina R, Fiorentino M, Santoni M, Montironi R, Cali? A, Eccher A, Milella M, Martignoni G, Brunocilla E, Massari F. A Meta-Analysis Evaluating Clinical Outcomes of Patients with Renal Cell Carcinoma Harboring Chromosome 9P Loss. Mol Diagn Ther. 2019 10; 23(5):569-577.
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Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Rep. 2019 09 24; 28(13):3320-3328.e4.
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Escamilla CO, Filonova I, Walker AK, Xuan ZX, Holehonnur R, Espinosa F, Liu S, Thyme SB, L?pez-Garc?a IA, Mendoza DB, Usui N, Ellegood J, Eisch AJ, Konopka G, Lerch JP, Schier AF, Speed HE, Powell CM. Kctd13 deletion reduces synaptic transmission via increased RhoA. Nature. 2017 11 09; 551(7679):227-231.
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Omansky GL, Abdulhayoglu E, Zhurbilo B. Phelan-McDermid Syndrome. Neonatal Netw. 2017 Mar 01; 36(2):98-100.
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Li Y, Park AI, Mou H, Colpan C, Bizhanova A, Akama-Garren E, Joshi N, Hendrickson EA, Feldser D, Yin H, Anderson DG, Jacks T, Weng Z, Xue W. A versatile reporter system for CRISPR-mediated chromosomal rearrangements. Genome Biol. 2015 May 28; 16:111.