GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES
Nicholls, Robert D, Knepper, Jessica L
Published in Annual review of genomics and human genetics (01.01.2001)
Published in Annual review of genomics and human genetics (01.01.2001)
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Journal Article
NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)
Rainier, Shirley, Chai, Jing-Hua, Tokarz, Debra, Nicholls, Robert D., Fink, John K.
Published in American journal of human genetics (01.10.2003)
Published in American journal of human genetics (01.10.2003)
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Journal Article
In vivo evolution of tumor-derived endothelial cells
McGuire, Terence F, Sajithlal, Gangadharan B, Lu, Jie, Nicholls, Robert D, Prochownik, Edward V
Published in PloS one (18.05.2012)
Published in PloS one (18.05.2012)
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Journal Article
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia
Henson, Brian J, Zhu, Wan, Hardaway, Kelsey, Wetzel, Jaime L, Stefan, Mihaela, Albers, Kathryn M, Nicholls, Robert D
Published in PloS one (04.05.2012)
Published in PloS one (04.05.2012)
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Journal Article
Possible Genomic Imprinting of Three Human Obesity–Related Genetic Loci
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
Published in American journal of human genetics (01.03.2005)
Published in American journal of human genetics (01.03.2005)
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Journal Article
The Putatively Functional Mkrn1-p1 Pseudogene Is Neither Expressed nor Imprinted, nor Does It Regulate Its Source Gene in Trans
Gray, Todd A., Wilson, Alison, Fortin, Patrick J., Nicholls, Robert D.
Published in Proceedings of the National Academy of Sciences - PNAS (08.08.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (08.08.2006)
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Journal Article
Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1
Park, Jun H, Stoffers, Doris A, Nicholls, Robert D, Simmons, Rebecca A
Published in The Journal of clinical investigation (01.06.2008)
Published in The Journal of clinical investigation (01.06.2008)
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Journal Article
Recent assembly of an imprinted domain from non-imprinted components
Rapkins, Robert W, Hore, Tim, Smithwick, Megan, Ager, Eleanor, Pask, Andrew J, Renfree, Marilyn B, Kohn, Matthias, Hameister, Horst, Nicholls, Robert D, Deakin, Janine E, Graves, Jennifer A Marshall
Published in PLoS genetics (01.10.2006)
Published in PLoS genetics (01.10.2006)
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Journal Article
An Imprinted, Mammalian Bicistronic Transcript Encodes Two Independent Proteins
Gray, Todd A., Saitoh, Shinji, Nicholls, Robert D.
Published in Proceedings of the National Academy of Sciences - PNAS (11.05.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (11.05.1999)
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Journal Article
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing
Kishore, Shivendra, Khanna, Amit, Zhang, Zhaiyi, Hui, Jingyi, Balwierz, Piotr J., Stefan, Mihaela, Beach, Carol, Nicholls, Robert D., Zavolan, Mihaela, Stamm, Stefan
Published in Human molecular genetics (01.04.2010)
Published in Human molecular genetics (01.04.2010)
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Journal Article
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
Dittrich, Bärbel, Buiting, Karin, Korn, Bernd, Rickard, Sarah, Buxton, Jessica, Saitoh, Shinji, Nicholls, Robert D, Poustka, Annemarie, Winterpacht, Andreas, Zabel, Bernhard, Horsthemke, Bernhard
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
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Journal Article
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
Schiff, Manuel, Haberberger, Birgit, Xia, Chuanwu, Mohsen, Al-Walid, Goetzman, Eric S, Wang, Yudong, Uppala, Radha, Zhang, Yuxun, Karunanidhi, Anuradha, Prabhu, Dolly, Alharbi, Hana, Prochownik, Edward V, Haack, Tobias, Häberle, Johannes, Munnich, Arnold, Rötig, Agnes, Taylor, Robert W, Nicholls, Robert D, Kim, Jung-Ja, Prokisch, Holger, Vockley, Jerry
Published in Human molecular genetics (01.06.2015)
Published in Human molecular genetics (01.06.2015)
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Journal Article
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Ferreira, Igor Ribeiro, Costa, Régis Afonso, Gomes, Leonardo Henrique Ferreira, dos Santos Cunha, Wilton Darleans, Tyszler, Latife Salomão, Freitas, Silvia, Llerena Junior, Juan Clinton, de Vasconcelos, Zilton Farias Meira, Nicholls, Robert D., Guida, Letícia da Cunha
Published in Scientific reports (03.08.2020)
Published in Scientific reports (03.08.2020)
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Journal Article
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach
Wolfe, Rachel M., Mohsen, Al‐Walid, Walsh Vockley, Cate, Bertrand, Carol A., Nicholls, Robert D., Heiman, Paige, Seibold, Leah M., Vockley, Jerry, Ghaloul‐Gonzalez, Lina
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, 3rd, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun Jung, Drain, Peter, Nicholls, Robert D
Published in PLoS genetics (01.04.2023)
Published in PLoS genetics (01.04.2023)
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Journal Article
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 Angelman syndromes
Stefan, Mihaela, Claiborn, Kathryn C, Stasiek, Edyta, Chai, Jing-Hua, Ohta, Tohru, Longnecker, Richard, Greally, John M, Nicholls, Robert D
Published in BMC genomics (09.11.2005)
Published in BMC genomics (09.11.2005)
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Journal Article
Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism
Lee, Seung-Taek, Nicholls, Robert D, Bundey, Sarah, Laxova, Renata, Musarella, Maria, Spritz, Richard A
Published in The New England journal of medicine (24.02.1994)
Published in The New England journal of medicine (24.02.1994)
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Journal Article
Phylogenetic Conservation of the Makorin-2 Gene, Encoding a Multiple Zinc-Finger Protein, Antisense to the RAF1 Proto-oncogene
Gray, Todd A, Azama, Kishu, Whitmore, Kirstin, Min, Allie, Abe, Shunnosuke, Nicholls, Robert D
Published in Genomics (San Diego, Calif.) (01.10.2001)
Published in Genomics (San Diego, Calif.) (01.10.2001)
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