Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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Wakabayashi T, Patel SN, Starr MR, Yonekawa Y. 18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment. Ophthalmic Surg Lasers Imaging Retina. 2023 05; 54(5):284-290.
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Wang JW, Lyu YN, Qiao B, Li Y, Zhang Y, Dhanyamraju PK, Bamme Y, Yu MD, Yang D, Tong YQ. Cell-free fetal DNA testing and its correlation with prenatal indications. BMC Pregnancy Childbirth. 2021 Aug 24; 21(1):585.
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Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS. Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms. Hum Mol Genet. 2020 09 30; 29(R1):R107-R116.
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Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):53-63.
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Jacobs JP, O'Brien SM, Hill KD, Kumar SR, Austin EH, Gaynor JW, Gruber PJ, Jonas RA, Pasquali SK, Pizarro C, St Louis JD, Meza J, Thibault D, Shahian DM, Mayer JE, Jacobs ML. Refining The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model With Enhanced Risk Adjustment for Chromosomal Abnormalities, Syndromes, and Noncardiac Congenital Anatomic Abnormalities. Ann Thorac Surg. 2019 08; 108(2):558-566.
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Blakey-Cheung S, Parker P, Schlaff W, Monseur B, Keppler-Noreuil K, Al-Kouatly HB. Diagnosis and clinical delineation of mosaic tetrasomy 5p. Eur J Med Genet. 2020 Jan; 63(1):103634.
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Wei S, Weiss ZR, Gaur P, Forman E, Williams Z. Rapid preimplantation genetic screening using a handheld, nanopore-based DNA sequencer. Fertil Steril. 2018 10; 110(5):910-916.e2.
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Saffren BD, Capasso JE, Zanolli M, Levin AV. Ocular manifestations of Emanuel syndrome. Am J Med Genet A. 2018 09; 176(9):1964-1967.
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Morin SJ, Kaser DJ, Franasiak JM. The dilemma of aneuploidy screening on low responders. Curr Opin Obstet Gynecol. 2018 06; 30(3):179-184.
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Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A. Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurol Scand. 2018 Jun; 137(6):575-581.