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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.
Barber JC, Bunyan D, Curtis M, Robinson D, Morlot S, Dermitzel A, Liehr T, Alves C, Trindade J, Paramos AI, Cooper C, Ocraft K, Taylor EJ, Maloney VK.
Mol Cytogenet. 2010 Feb 18;3:3.
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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
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Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4.
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A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases.
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Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
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Final Report on Carcinogens Background Document for Formaldehyde.
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[Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
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Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
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