Search Results - "Jansen, Laura"

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia by Jansen, Laura A, Mirzaa, Ghayda M, Ishak, Gisele E, O'Roak, Brian J, Hiatt, Joseph B, Roden, William H, Gunter, Sonya A, Christian, Susan L, Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G, Shendure, Jay, Hevner, Robert F, Dobyns, William B

“…Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common…”
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Online grocery shopping recommender systems: Common approaches and practices by Jansen, Laura Z.H., Bennin, Kwabena E., van Kleef, Ellen, Van Loo, Ellen J.

“…Food recommender systems have been developed for the online environment to support shoppers in making informed decisions. These systems analyze the extensive…”
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Exploring the role of decision support systems in promoting healthier and more sustainable online food shopping: A card sorting study by Jansen, Laura Z.H., Van Loo, Ellen J., Bennin, Kwabena E., van Kleef, Ellen

“…This study aims to identify opportunities and barriers in developing and implementing Food Shopping Support Systems (FSSS) for healthier and more sustainable…”
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Review of Commercially Available Epilepsy Genetic Panels by Chambers, Chelsea, Jansen, Laura A., Dhamija, Radhika

“…Next generation sequencing panels have revolutionized the diagnostic approach to patients with epilepsy. There are several commercial epilepsy panels…”
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The industrial application potential of sugar beet pulp derived monosaccharides d-Galacturonic acid and l-Arabinose by Jansen, Laura M, Hendriks, Veronique C A, Bentlage, Herman, Ranoux, Adeline, Raaijmakers, Harry W C, Boltje, Thomas Jan

“…This review provides a perspective on the industrial application potential of sugar beet pulp (SBP) derived monosaccharides. The broad application of these…”
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The use of food swaps to encourage healthier online food choices: a randomized controlled trial by Jansen, Laura, van Kleef, Ellen, Van Loo, Ellen J

“…Online grocery stores offer opportunities to encourage healthier food choices at the moment that consumers place a product of their choice in their basket…”
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mTORC2 Steals the Spotlight by Jansen, Laura A.

“…Therapeutic Inhibition of mTORC2 Rescues the Behavioral and Neurophysiological Abnormalities Associated With PTEN-Deficiency Chen C, Sgritta M, Mays J, et al…”
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De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies by Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.

“…Developmental epilepsies are age-dependent seizure disorders for which genetic causes have been increasingly identified. Here we report six unrelated…”
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The Space-Time Continuum of Cortical Dysplasia by Jansen, Laura A.

“…Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias D’Gama AM, Woodworth MB, Hossain AA,…”
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Gamma-Aminobutyric Acid A Receptor Subunit Expression and Cellular Localization in the Human Parkinsonian Globus Pallidus by Diamond, Joshua M., Lopes, M. Beatriz, Elias, William J., Jansen, Laura A.

“…The gamma-aminobutyric acid A (GABAA) receptor is an important mediator of cellular signaling in the globus pallidus (GP) and might be implicated in the…”
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly by Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B., Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J., Dobyns, William B., Hahn, Sihoun

“…Summary Objective Mutations of ATP1A3 have been associated with rapid onset dystonia‐parkinsonism and more recently with alternating hemiplegia of childhood…”
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Impact of placental sharing and large bidirectional anastomoses on birthweight discordance in monochorionic twins: a retrospective cohort study in 449 cases by Groene, Sophie G., Openshaw, Kristine M., Jansén-Storbacka, Laura R., Slaghekke, Femke, Haak, Monique C., Heijmans, Bastiaan T., van Klink, Jeanine M.M., Roest, Arno A.W., van der Meeren, Lotte E., Lopriore, Enrico

“…In monochorionic twin pregnancies, the fetuses share a single placenta. When this placenta is unequally shared, a discordant antenatal growth pattern ensues…”
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Synthesis and Performance of Bio‐Based Amphoteric Surfactants by Jansen, Laura M., Bakker, Pieter C., Venbrux, Niek, Rijbroek, Kim W. M., Klaassen‐Heshof, Dimphna Johanna, Lenferink, Wouter B., Lücker, Sebastian, Ranoux, Adeline, Raaijmakers, Harry W. C., Boltje, Thomas J.

“…As the global surfactant market continues to expand, there is an increasing need to develop bio‐based alternatives in the shift towards a circular economy…”
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Neonatal Seizures: Is the Remedy Worse than the Disease? by Jansen, Laura A.

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Delving Deeper into DEPDC5 by Jansen, Laura A.

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Genetic variation in the farnesoid X-receptor predicts Crohn’s disease severity in female patients by Wilson, Aze, Wang, Qian, Almousa, Ahmed A., Jansen, Laura E., Choi, Yun-hee, Schwarz, Ute I., Kim, Richard B.

“…The farnesoid X receptor (FXR) is implicated in Crohn's disease (CD) pathogenesis. It is unclear how genetic variation in FXR impacts CD severity versus…”
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Making Connections with GABA by Jansen, Laura A.

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α‑Selective Glycosylation with β‑Glycosyl Sulfonium Ions Prepared via Intramolecular Alkylation by Moons, Sam J, Mensink, Rens A, Bruekers, Jeroen P. J, Vercammen, Maurits L. A, Jansen, Laura M, Boltje, Thomas J

“…Stereoselective glycosylation remains the main challenge in the chemical synthesis of oligosaccharides. Herein we report a simple method to convert…”
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CYP2D6 genotype and endoxifen plasma concentration do not predict hot flash severity during tamoxifen therapy by Jansen, Laura E., Teft, Wendy A., Rose, Rhiannon V., Lizotte, Daniel J., Kim, Richard B.

“…Purpose Tamoxifen is frequently prescribed to prevent breast cancer recurrence. Tamoxifen is a prodrug and requires bioactivation by CYP2D6. Tamoxifen use is…”
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Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy by Jansen, Laura A., Hevner, Robert F., Roden, William H., Hahn, Si Houn, Jung, Sunhee, Gospe Jr, Sidney M.

“…Objective A high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by…”
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