Below are the most recent publications written about "Chromosome Deletion" by people in Profiles.
-
Antkowiak KR, Coskun P, Noronha ST, Tavella D, Massi F, Ryder SP. A nematode model to evaluate microdeletion phenotype expression. G3 (Bethesda). 2024 02 07; 14(2).
-
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. Prenat Diagn. 2024 02; 44(2):237-246.
-
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.
-
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.
-
Robilliard R, Caylan M. Infantile presentation of 3q26.33-3q27.2 deletion syndrome. BMJ Case Rep. 2020 Nov 30; 13(11).
-
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.
-
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.
-
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.
-
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.
-
Perrino CM, Orien JA, Tretter JG, Zhao W, Zynger DL. Clinical Utility of Fluorescence In Situ Hybridization (FISH) for Deletion of Chromosome 3p in the Work-up of Renal Masses. Appl Immunohistochem Mol Morphol. 2019 08; 27(7):549-557.