GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES von Nicholls, Robert D, Knepper, Jessica L

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NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) von Rainier, Shirley, Chai, Jing-Hua, Tokarz, Debra, Nicholls, Robert D., Fink, John K.

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Imprinting in Prader–Willi and Angelman syndromes von Nicholls, Robert D, Saitoh, Shinji, Horsthemke, Bernhard

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome von Lossie, A C, Whitney, M M, Amidon, D, Dong, H J, Chen, P, Theriaque, D, Hutson, A, Nicholls, R D, Zori, R T, Williams, C A, Driscoll, D J

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Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transp... von Chai, J-H., Locke, D.P., Greally, J.M., Knoll, J.H.M., Ohta, T., Dunai, J., Yavor, A., Eichler, E.E., Nicholls, R.D.

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Possible Genomic Imprinting of Three Human Obesity–Related Genetic Loci von Dong, Chuanhui, Li, Wei-Dong, Geller, Frank, Lei, Lei, Li, Ding, Gorlova, Olga Y., Hebebrand, Johannes, Amos, Christopher I., Nicholls, Robert D., Price, R. Arlen

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Structure of chromosomal duplicons and their role in mediating human genomic disorders von Ji, Y, Eichler, E E, Schwartz, S, Nicholls, R D

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The impact of genomic imprinting for neurobehavioral and developmental disorders von Nicholls, R D

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15 von Dittrich, Bärbel, Saitoh, Shinji, Schwartz, Stuart, Buiting, Karin, Nicholls, Robert D, Gross, Stephanie, Horsthemke, Bernhard

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An Imprinted, Mammalian Bicistronic Transcript Encodes Two Independent Proteins von Gray, Todd A., Saitoh, Shinji, Nicholls, Robert D.

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BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications von Locke, D P, Segraves, R, Nicholls, R D, Schwartz, S, Pinkel, D, Albertson, D G, Eichler, E E

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A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome von Smilinich, Nancy J., Day, Colleen D., Fitzpatrick, Galina V., Caldwell, Germaine M., Lossie, Amy C., Cooper, P. R., Smallwood, Allan C., Joyce, Johanna A., Schofield, Paul N., Reik, Wolf, Nicholls, Robert D., Weksberg, Rosanna, Driscoll, D. J., Maher, Eamonn R., Shows, Thomas B., Higgins, Michael J.

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Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints von Amos-Landgraf, James M., Ji, Yonggang, Gottlieb, Wayne, Depinet, Theresa, Wandstrat, Amy E., Cassidy, Suzanne B., Driscoll, Daniel J., Rogan, Peter K., Schwartz, Stuart, Nicholls, Robert D.

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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome von Ohta, T., Gray, T.A., Rogan, P.K., Buiting, K., Gabriel, J.M., Saitoh, S., Muralidhar, B., Bilienska, B., Krajewska-Walasek, M., Driscoll, D.J., Horsthemke, B., Butler, M.G., Nicholls, R.D.

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Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models von Ding, Feng, Prints, Yelena, Dhar, Madhu S, Johnson, Dabney K, Garnacho-Montero, Carmen, Nicholls, Robert D, Francke, Uta

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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene von Dittrich, Bärbel, Buiting, Karin, Korn, Bernd, Rickard, Sarah, Buxton, Jessica, Saitoh, Shinji, Nicholls, Robert D, Poustka, Annemarie, Winterpacht, Andreas, Zabel, Bernhard, Horsthemke, Bernhard

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Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome von Nicholls, Robert D., Pai, G. Shashidhar, Gottlieb, Wayne, Cantú, Eduardo S.

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Hormonal and Metabolic Defects in a Prader-Willi Syndrome Mouse Model with Neonatal Failure to Thrive von Stefan, M, Ji, H, Simmons, R. A, Cummings, D. E, Ahima, R. S, Friedman, M. I, Nicholls, R. D

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New insights reveal complex mechanisms involved in genomic imprinting von Nicholls, R D

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus von Rodriguez-Jato, Sara, Nicholls, Robert D., Driscoll, Daniel J., Yang, Thomas P.

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