Ledbetter DH - Search Results

1

Methylation-specific PCR simplifies imprinting analysis.

Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Kubota T, et al. Among authors: ledbetter dh. Nat Genet. 1997 May;16(1):16-7. doi: 10.1038/ng0597-15. Nat Genet. 1997. PMID: 9140389 No abstract available.

2

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Sutcliffe JS, et al. Among authors: ledbetter dh. Nat Genet. 1994 Sep;8(1):52-8. doi: 10.1038/ng0994-52. Nat Genet. 1994. PMID: 7987392

3

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Kubota T, et al. Among authors: ledbetter dh. Am J Med Genet. 1996 Dec 2;66(1):77-80. doi: 10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8957518

4

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

Butler MG, Christian SL, Kubota T, Ledbetter DH. Butler MG, et al. Among authors: ledbetter dh. Am J Med Genet. 1996 Oct 16;65(2):137-41. doi: 10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8911606 Free PMC article.

5

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH. Kubota T, et al. Among authors: ledbetter dh. J Med Genet. 1996 Dec;33(12):1011-4. doi: 10.1136/jmg.33.12.1011. J Med Genet. 1996. PMID: 9004133 Free PMC article.

6

Molecular screening for proximal 15q abnormalities in a mentally retarded population.

Jacobsen J, King BH, Leventhal BL, Christian SL, Ledbetter DH, Cook EH Jr. Jacobsen J, et al. Among authors: ledbetter dh. J Med Genet. 1998 Jul;35(7):534-8. doi: 10.1136/jmg.35.7.534. J Med Genet. 1998. PMID: 9678696 Free PMC article.

7

Methylation analysis of the fragile X syndrome by PCR.

Das S, Kubota T, Song M, Daniel R, Berry-Kravis EM, Prior TW, Popovich B, Rosser L, Arinami T, Ledbetter DH. Das S, et al. Among authors: ledbetter dh. Genet Test. 1997-1998;1(3):151-5. doi: 10.1089/gte.1997.1.151. Genet Test. 1997. PMID: 10464640

8

Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.

Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN. Tonk V, et al. Among authors: ledbetter dh. Am J Med Genet. 1996 Dec 30;66(4):426-8. doi: 10.1002/(SICI)1096-8628(19961230)66:4<426::AID-AJMG7>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8989460

9

The spectrum of mutations in UBE3A causing Angelman syndrome.

Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: ledbetter dh. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341

10

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. Ungaro P, et al. Among authors: ledbetter dh. J Med Genet. 2001 Jan;38(1):26-34. doi: 10.1136/jmg.38.1.26. J Med Genet. 2001. PMID: 11134237 Free PMC article.

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