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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2000 | 2 |
2001 | 1 |
2002 | 1 |
2011 | 1 |
2024 | 0 |
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6 results
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Page 1
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
J Med Genet. 2000 Jun;37(6):428-33. doi: 10.1136/jmg.37.6.428.
J Med Genet. 2000.
PMID: 10851253
Free PMC article.
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).
Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L.
Smith AC, et al.
Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004.
Genet Med. 2002.
PMID: 12180145
Free article.
Item in Clipboard
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR.
Potocki L, et al.
Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743.
Nat Genet. 2000.
PMID: 10615134
Item in Clipboard
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L.
Boone PM, et al.
Am J Med Genet A. 2011 Aug;155A(8):2024-7. doi: 10.1002/ajmg.a.34098. Epub 2011 Jul 7.
Am J Med Genet A. 2011.
PMID: 21739587
Free PMC article.
No abstract available.
Item in Clipboard
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR.
Potocki L, et al.
Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240.
Am J Hum Genet. 1999.
PMID: 9973284
Free PMC article.
Item in Clipboard
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB.
Liburd N, et al.
Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3.
Hum Genet. 2001.
PMID: 11735029
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