The impact of genomic imprinting for neurobehavioral and developmental disorders

ανά Nicholls, Robert D.
Έκδοση 2000

Introductory Speech for James R. Lupski

ανά Nicholls, Robert D.
Έκδοση 2003

The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors

ανά Smith, Karen T., Nicholls, Robert D., Reines, Daniel
Έκδοση 2006

An imprinted, mammalian bicistronic transcript encodes two independent proteins

ανά Gray, Todd A., Saitoh, Shinji, Nicholls, Robert D.
Έκδοση 1999

The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans

ανά Gray, Todd A., Wilson, Alison, Fortin, Patrick J., Nicholls, Robert D.
Έκδοση 2006

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

ανά Rodriguez-Jato, Sara, Nicholls, Robert D., Driscoll, Daniel J., Yang, Thomas P.
Έκδοση 2005

Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1

ανά Park, Jun H., Stoffers, Doris A., Nicholls, Robert D., Simmons, Rebecca A.
Έκδοση 2008

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

ανά Rainier, Shirley, Chai, Jing-Hua, Tokarz, Debra, Nicholls, Robert D., Fink, John K.
Έκδοση 2003

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

ανά Nicholls, Robert D., Knoll, Joan H. M., Butler, Merlin G., Karam, Susan, Lalande, Marc
Τόπος έκδοσης Nature (1989)

In Vivo Evolution of Tumor-Derived Endothelial Cells

ανά McGuire, Terence F., Sajithlal, Gangadharan B., Lu, Jie, Nicholls, Robert D., Prochownik, Edward V.
Έκδοση 2012

Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome

ανά Stefan, Mihaela, Simmons, Rebecca A., Bertera, Suzanne, Trucco, Massimo, Esni, Farzad, Drain, Peter, Nicholls, Robert D.
Έκδοση 2011

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

ανά Sun, Yongming, Nicholls, Robert D., Butler, Merlin G., Saitoh, Shinji, Hainline, Bryan E., Palmer, Catherine G.
Τόπος έκδοσης Hum Mol Genet (1996)

Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center

ανά Greally, John M., Gray, Todd A., Gabriel, James M., Song, Li qun, Zemel, Sharon, Nicholls, Robert D.
Έκδοση 1999

Structure of the Highly Conserved HERC2 Gene and of Multiple Partially Duplicated Paralogs in Human

ανά Ji, Yonggang, Rebert, Nancy A., Joslin, John M., Higgins, Michael J., Schultz, Roger A., Nicholls, Robert D.
Έκδοση 2000

Multiplex PCR of three dinucleotide repeats in the Prader–Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy

ανά Mutirangura, Apiwat, Greenberg, Frank, Butler, Merlin G., Malcolm, Sue, Nicholls, Robert D., Chakravarti, Aravinda, Ledbetter, David H.
Τόπος έκδοσης Hum Mol Genet (1993)

Transcriptional and Post-Transcriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia

ανά Henson, Brian J., Zhu, Wan, Hardaway, Kelsey, Wetzel, Jaime L., Stefan, Mihaela, Albers, Kathryn M., Nicholls, Robert D.
Έκδοση 2012

Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Ange...

ανά Stefan, Mihaela, Claiborn, Kathryn C, Stasiek, Edyta, Chai, Jing-Hua, Ohta, Tohru, Longnecker, Richard, Greally, John M, Nicholls, Robert D
Έκδοση 2005

Hypopigmentation in the Prader-Willi Syndrome Correlates With P Gene Deletion But Not With Haplotype of the Hemizygous P Allele

ανά Spritz, Richard A., Bailin, Tu, Nicholls, Robert D., Lee, Seung-Taek, Park, Sang-Kyu, Mascari, Maria J., Butler, Merlin G.
Τόπος έκδοσης Am J Med Genet (1997)

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing

ανά Kishore, Shivendra, Khanna, Amit, Zhang, Zhaiyi, Hui, Jingyi, Balwierz, Piotr J., Stefan, Mihaela, Beach, Carol, Nicholls, Robert D., Zavolan, Mihaela, Stamm, Stefan
Έκδοση 2010

Possible Genomic Imprinting of Three Human Obesity–Related Genetic Loci

ανά 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
Έκδοση 2005