LORRAINE POTOCKI to Smith-Magenis Syndrome
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Smith-Magenis Syndrome.
Connection Strength
2.611
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Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. CNS Drugs. 2020 07; 34(7):723-730.
Score: 0.607
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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: 0.385
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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: 0.371
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Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4.
Score: 0.332
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Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A. 2011 Aug; 155A(8):2024-7.
Score: 0.326
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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: 0.152
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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74.
Score: 0.115
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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: 0.087
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Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86.
Score: 0.080
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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: 0.078