Ledbetter DH - Search Results

1

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium; Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Sanders SJ, et al. Among authors: ledbetter dh. Neuron. 2015 Sep 23;87(6):1215-1233. doi: 10.1016/j.neuron.2015.09.016. Neuron. 2015. PMID: 26402605 Free PMC article.

2

Uniparental disomy as a mechanism for human genetic disease.

Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Spence JE, et al. Among authors: ledbetter dh. Am J Hum Genet. 1988 Feb;42(2):217-26. Am J Hum Genet. 1988. PMID: 2893543 Free PMC article.

3

Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.

Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC. Gunaratne PH, et al. Among authors: ledbetter dh. Genes Dev. 1995 Apr 1;9(7):808-20. doi: 10.1101/gad.9.7.808. Genes Dev. 1995. PMID: 7705658 Free article.

4

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

5

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

6

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. Mutirangura A, et al. Among authors: ledbetter dh. Genomics. 1993 Dec;18(3):546-52. doi: 10.1016/s0888-7543(11)80011-x. Genomics. 1993. PMID: 8307564

7

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

8

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.

Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Christian SL, et al. Among authors: ledbetter dh. Genome Res. 1998 Feb;8(2):146-57. doi: 10.1101/gr.8.2.146. Genome Res. 1998. PMID: 9477342 Free PMC article.

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

381 results

Search Page

Filters