LORRAINE POTOCKI to Adolescent
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Adolescent.
Connection Strength
0.316
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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: 0.044
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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: 0.041
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Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4.
Score: 0.024
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Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010 Mar; 152A(3):565-72.
Score: 0.022
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Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr. 2010 Feb-Mar; 31(2):137-43.
Score: 0.021
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.018
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Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006 Jun; 27(3):188-92.
Score: 0.017
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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4.
Score: 0.014
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Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med. 2002 May-Jun; 4(3):118-25.
Score: 0.013
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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun; 37(6):428-33.
Score: 0.011
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genet Med. 2019 10; 21(10):2355-2363.
Score: 0.010
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Hypertension in Potocki-Shaffer syndrome: A case report. Eur J Med Genet. 2020 Jan; 63(1):103633.
Score: 0.010
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DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am J Hum Genet. 1999 Feb; 64(2):471-8.
Score: 0.010
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
Score: 0.009
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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: 0.008
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52.
Score: 0.008
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Utility of whole exome sequencing in evaluation of juvenile motor neuron disease. Muscle Nerve. 2016 Apr; 53(4):648-52.
Score: 0.008
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov; 45(11):1405-8.
Score: 0.007
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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: 0.006
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.006
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Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006 Feb; 21(2):93-8.
Score: 0.004
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The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol. 2003 Mar; 33(3):173-6.
Score: 0.003
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Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet. 1996 Mar 29; 62(3):247-54.
Score: 0.002