Below are the most recent publications written about "Chromosome Duplication" by people in Profiles.
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Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec; 64(12):104367.
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Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL. Phenotypic features in MECP2 duplication syndrome: Effects of age. Am J Med Genet A. 2021 02; 185(2):362-369.
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Chu C, Wu H, Xu F, Ray JW, Britt A, Robinson SS, Lupo PJ, Murphy CRC, Dreyer CF, Lee PDK, Hu PC, Dong J. Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution. Lab Med. 2020 Nov 02; 51(6):642-648.
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Punjani N, Lamb DJ. Male infertility and genitourinary birth defects: there is more than meets the eye. Fertil Steril. 2020 08; 114(2):209-218.
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Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084.
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Kim SH, Green-Snyder L, Lord C, Bishop S, Steinman KJ, Bernier R, Hanson E, Goin-Kochel RP, Chung WK. Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatr Genet. 2020 09; 183(6):380-391.
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Pinelli M, Terrone G, Troglio F, Squeo GM, Cappuccio G, Imperati F, Pignataro P, Genesio R, Nitch L, Del Giudice E, Merla G, Testa G, Brunetti-Pierri N. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clin Genet. 2020 06; 97(6):940-942.
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Kaplan K, McCool C, Lupski JR, Glaze D, Potocki L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A. 2019 10; 179(10):1982-1986.
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Varon A, Whitt Z, Kalika PM, Potocki L, Barbouth DS, Walz K. Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. Am J Med Genet A. 2019 07; 179(7):1366-1370.
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Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome. Clin Genet. 2019 05; 95(5):575-581.