LORRAINE POTOCKI to Chromosome Duplication
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Chromosome Duplication.
Connection Strength
1.749
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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.
Score: 0.611
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Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb; 164A(2):500-4.
Score: 0.387
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Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A. 2019 10; 179(10):1982-1986.
Score: 0.143
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Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. Am J Med Genet A. 2019 07; 179(7):1366-1370.
Score: 0.141
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707.
Score: 0.110
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Stress and well-being among parents of children with Potocki-Lupski syndrome. J Genet Couns. 2013 Oct; 22(5):633-42.
Score: 0.093
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Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4.
Score: 0.083
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The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A. 2011 Feb; 155A(2):363-6.
Score: 0.079
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Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr. 2011 Apr; 158(4):655-659.e2.
Score: 0.079
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A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713.
Score: 0.022