Yu S - Search Results

1

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.

Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. Mulley JC, et al. Among authors: yu s. Neurology. 2006 Sep 26;67(6):1094-5. doi: 10.1212/01.wnl.0000237322.04338.2b. Neurology. 2006. PMID: 17000989

2

Fragile-X syndrome: unique genetics of the heritable unstable element.

Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, et al. Yu S, et al. Am J Hum Genet. 1992 May;50(5):968-80. Am J Hum Genet. 1992. PMID: 1570846 Free PMC article.

3

Experience with direct molecular diagnosis of fragile X.

Mulley JC, Yu S, Gedeon AK, Donnelly A, Turner G, Loesch D, Chapman CJ, Gardner RJ, Richards RI, Sutherland GR. Mulley JC, et al. Among authors: yu s. J Med Genet. 1992 Jun;29(6):368-74. doi: 10.1136/jmg.29.6.368. J Med Genet. 1992. PMID: 1619631 Free PMC article.

4

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

Richards RI, Holman K, Kozman H, Kremer E, Lynch M, Pritchard M, Yu S, Mulley J, Sutherland GR. Richards RI, et al. Among authors: yu s. J Med Genet. 1991 Dec;28(12):818-23. doi: 10.1136/jmg.28.12.818. J Med Genet. 1991. PMID: 1757956 Free PMC article.

5

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

Sutherland GR, Gedeon A, Kornman L, Donnelly A, Byard RW, Mulley JC, Kremer E, Lynch M, Pritchard M, Yu S, et al. Sutherland GR, et al. Among authors: yu s. N Engl J Med. 1991 Dec 12;325(24):1720-2. doi: 10.1056/NEJM199112123252407. N Engl J Med. 1991. PMID: 1944473 Free article. No abstract available.

6

A BclI RFLP for DXS296 (VK21) near the fragile X.

Yu S, Suthers GK, Mulley JC. Yu S, et al. Nucleic Acids Res. 1990 Feb 11;18(3):690. doi: 10.1093/nar/18.3.690-a. Nucleic Acids Res. 1990. PMID: 1968627 Free PMC article. No abstract available.

7

Fragile X genotype characterized by an unstable region of DNA.

Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, et al. Yu S, et al. Science. 1991 May 24;252(5009):1179-81. doi: 10.1126/science.252.5009.1179. Science. 1991. PMID: 2031189

8

FRAXE and mental retardation.

Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, López I, Glover G, Gabarrón I, et al. Mulley JC, et al. Among authors: yu s. J Med Genet. 1995 Mar;32(3):162-9. doi: 10.1136/jmg.32.3.162. J Med Genet. 1995. PMID: 7783162 Free PMC article.

9

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

McMahon JM, Scheffer IE, Nicholl JK, Waters W, Eyre H, Hinton L, Nelson P, Yu S, Dibbens LM, Berkovic SF, Mulley JC. McMahon JM, et al. Among authors: yu s. Epileptic Disord. 2010 Sep;12(3):192-8. doi: 10.1684/epd.2010.0326. Epub 2010 Jul 19. Epileptic Disord. 2010. PMID: 20643615 Free article.

10

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. Nicholl J, et al. Among authors: yu s. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184456

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