SARAH ELSEA to Chromosomes, Human, Pair 17
This is a "connection" page, showing publications SARAH ELSEA has written about Chromosomes, Human, Pair 17.
Connection Strength
3.135
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A functional network module for Smith-Magenis syndrome. Clin Genet. 2009 Apr; 75(4):364-74.
Score: 0.266
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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genet Test. 2008 Mar; 12(1):67-73.
Score: 0.248
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17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clin Genet. 2007 Jul; 72(1):47-58.
Score: 0.237
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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet. 2007 Jun; 71(6):540-50.
Score: 0.236
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Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). Am J Med Genet A. 2007 May 01; 143A(9):999-1008.
Score: 0.234
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 2006 Jul; 8(7):417-27.
Score: 0.221
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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8.
Score: 0.202
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Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A. 2005 Jan 30; 132A(3):278-82.
Score: 0.200
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Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab. 2003 Jun; 79(2):134-41.
Score: 0.179
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Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet. 2001 Dec; 9(12):892-902.
Score: 0.161
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Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval. Cytogenet Cell Genet. 2000; 88(3-4):283-5.
Score: 0.141
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Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. Am J Med Genet. 1999 Dec 03; 87(4):342-8.
Score: 0.140
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Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet. 1997; 79(3-4):276-81.
Score: 0.115
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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. BMC Med Genet. 2010 Oct 08; 11:142.
Score: 0.074
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Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A. 2008 Mar 01; 146A(5):636-43.
Score: 0.062
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Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr; 16(4):412-21.
Score: 0.062
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New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007 Apr; 20(2):125-34.
Score: 0.058
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Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8.
Score: 0.044
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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: 0.041
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Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs. Genes Chromosomes Cancer. 2001 Jan; 30(1):38-47.
Score: 0.038
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Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment. J Biol Chem. 1998 Dec 11; 273(50):33540-7.
Score: 0.033
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Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity. Am J Med Genet. 1998 Jan 06; 75(1):104-8.
Score: 0.031
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Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Cytogenet Cell Genet. 1998; 81(1):79-82.
Score: 0.031
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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: 0.028
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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007.
Score: 0.027
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Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet. 1995 Dec; 57(6):1342-50.
Score: 0.027