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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.
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
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Nakao M, et al. Among authors: ledbetter dh. Hum Mol Genet. 1994 Feb;3(2):309-15. doi: 10.1093/hmg/3.2.309. Hum Mol Genet. 1994. PMID: 8004100
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
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.
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
Herzing LB, Cook EH Jr, Ledbetter DH. Herzing LB, et al. Among authors: ledbetter dh. Hum Mol Genet. 2002 Jul 15;11(15):1707-18. doi: 10.1093/hmg/11.15.1707. Hum Mol Genet. 2002. PMID: 12095913
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
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
Buiting K, Dittrich B, Gross S, Greger V, Lalande M, Robinson W, Mutirangura A, Ledbetter D, Horsthemke B. Buiting K, et al. Among authors: ledbetter d. Hum Mol Genet. 1993 Dec;2(12):1991-4. doi: 10.1093/hmg/2.12.1991. Hum Mol Genet. 1993. PMID: 8111365
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.
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. Mutirangura A, et al. Among authors: ledbetter dh. Hum Mol Genet. 1993 Feb;2(2):143-51. doi: 10.1093/hmg/2.2.143. Hum Mol Genet. 1993. PMID: 8499903 Free PMC article.
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