Search Results - "Northrup, Hope"

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice by Peron, Angela, Au, Kit Sing, Northrup, Hope

“…Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the TSC1 or the TSC2 gene,…”
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P439: Yet another neurodevelopmental single gene disorder: G3BP1-related disorder by Richardson, Kate, Northrup, Hope

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Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants by Wu, Joyce Y., MD, Peters, Jurriaan M., MD, PhD, Goyal, Monisha, MD, Krueger, Darcy, MD, PhD, Sahin, Mustafa, MD, PhD, Northrup, Hope, MD, Au, Kit Sing, MD, Cutter, Gary, PhD, Bebin, E. Martina, MD, MPA

“…Abstract Background We assessed the clinical utility of routine electroencephalography (EEG) in the prediction of epilepsy onset in asymptomatic infants with…”
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The genomic landscape of tuberous sclerosis complex by Martin, Katie R., Zhou, Wanding, Bowman, Megan J., Shih, Juliann, Au, Kit Sing, Dittenhafer-Reed, Kristin E., Sisson, Kellie A., Koeman, Julie, Weisenberger, Daniel J., Cottingham, Sandra L., DeRoos, Steven T., Devinsky, Orrin, Winn, Mary E., Cherniack, Andrew D., Shen, Hui, Northrup, Hope, Krueger, Darcy A., MacKeigan, Jeffrey P.

“…Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse…”
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Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects by Au, Kit Sing, Ashley-Koch, Allison, Northrup, Hope

“…The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories:…”
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P304: Fifth case of MYH11-associated megacystis-microcolon-intestinal hypoperistalsis syndrome identified in patient with missense variant and whole gene deletion by Shields, Kathleen, Northrup, Hope

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Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference by Krueger, Darcy A., MD PhD, Northrup, Hope, MD

“…Abstract Background Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected…”
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Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial by Bebin, Elizabeth Martina, Peters, Jurriaan M., Porter, Brenda E., McPherson, Tarrant O., O'Kelley, Sarah, Sahin, Mustafa, Taub, Katherine S., Rajaraman, Rajsekar, Randle, Stephanie C., McClintock, William M., Koenig, Mary Kay, Frost, Mike D., Northrup, Hope A., Werner, Klaus, Nolan, Danielle A., Wong, Michael, Krefting, Jessica L., Biasini, Fred, Peri, Kalyani, Cutter, Gary, Krueger, Darcy A.

“…Objective This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive…”
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Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex by Ihnen, S Katie Z, Alperin, Samuel, Capal, Jamie K, Cohen, Alexander L, Peters, Jurriaan M, Bebin, E Martina, Northrup, Hope A, Sahin, Mustafa, Krueger, Darcy A

“…Epilepsy and intellectual disability are common in tuberous sclerosis complex (TSC). Although early life seizures and intellectual disability are known to be…”
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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants by Davis, Peter E, Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M, Au, Kit Sing, Northrup, Hope, Bebin, E Martina, Wu, Joyce Y, Krueger, Darcy, Sahin, Mustafa

“…Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be…”
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ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans by Luo, Hongyu, Lao, Linjiang, Au, Kit Sing, Northrup, Hope, He, Xiao, Forget, Diane, Gauthier, Marie-Soleil, Coulombe, Benoit, Bourdeau, Isabelle, Shi, Wei, Gagliardi, Lucia, Fragoso, Maria Candida Barisson Villares, Peng, Junzheng, Wu, Jiangping

“…Neural tube defects (NTDs) are caused by genetic and environmental factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit…”
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Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex by Sánchez Fernández, Iván, Yang, Edward, Calvachi, Paola, Amengual-Gual, Marta, Wu, Joyce Y, Krueger, Darcy, Northrup, Hope, Bebin, Martina E, Sahin, Mustafa, Yu, Kun-Hsing, Peters, Jurriaan M

“…To develop and test a deep learning algorithm to automatically detect cortical tubers in magnetic resonance imaging (MRI), to explore the utility of deep…”
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KIAA2022 nonsense mutation in a symptomatic female by Farach, Laura S., Northrup, Hope

“…Mutations in the KIAA2022 gene have been implicated in non‐syndromic X‐linked intellectual disability. Thus far, all carrier females reported have been…”
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Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients by Hebert, Luke, Hillman, Paul, Baker, Craig, Brown, Michael, Ashley-Koch, Allison, Hixson, James E, Morrison, Alanna C, Northrup, Hope, Au, Kit Sing, Kibar, Zoha

“…Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized…”
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Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex by Grayson, Leslie E., Peters, Jurriaan M., McPherson, Tarrant, Krueger, Darcy A., Sahin, Mustafa, Wu, Joyce Y., Northrup, Hope A., Porter, Brenda, Cutter, Gary R., O'Kelley, Sarah E., Krefting, Jessica, Stone, Scellig S., Madsen, Joseph R., Fallah, Aria, Blount, Jeffrey P., Weiner, Howard L., Bebin, E. Martina, Warfield, Simon K., Goyal, Monisha, Pearson, Deborah A., Williams, Marian E., Hanson, Ellen, Bing, Nicole, Kent, Bridget, Filip-Dhima, Rajna, Dies, Kira, Bruns, Stephanie, Scherrer, Benoit, Murray, Donna S., Roberds, Steven L., Capal, Jamie

“…To determine if early epilepsy surgery mitigates detrimental effects of refractory epilepsy on development, we investigated surgical and neurodevelopmental…”
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Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism by Soler-Alfonso, Claudia, MD, Enns, Gregory M., MB, ChB, Koenig, Mary Kay, MD, Saavedra, Heather, RD, LD, Bonfante-Mejia, Eliana, MD, Northrup, Hope, MD

“…Abstract Background Leigh syndrome is a progressive neurodegenerative disorder with usual onset of symptoms during the first year of life. The disorder has…”
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Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex by Mowrey, Kate, Northrup, Hope, Hashmi, Syed Shahrukh, Rodriguez-Buritica, David

“…Purpose The purpose of our study is to expand the knowledge regarding intrinsic reproductive dysfunction in females with TSC and to explore the impact of mTOR…”
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Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study by Prohl, Anna K, Scherrer, Benoit, Tomas-Fernandez, Xavier, Filip-Dhima, Rajna, Kapur, Kush, Velasco-Annis, Clemente, Clancy, Sean, Carmody, Erin, Dean, Meghan, Valle, Molly, Prabhu, Sanjay P, Peters, Jurriaan M, Bebin, E Martina, Krueger, Darcy A, Northrup, Hope, Wu, Joyce Y, Sahin, Mustafa, Warfield, Simon K

“…Multi-site MRI studies are often necessary for recruiting sufficiently sized samples when studying rare conditions. However, they require pooling data from…”
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P278: Triple diagnoses with overlapping phenotypes: Recommendations and reflections by Richardson, Kate, Northrup, Hope, Russo, S. Nicholas, Giang, John, Do, Jenny

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Mutations in folate transporter genes and risk for human myelomeningocele by Findley, Tina O., Tenpenny, Joy C., O'Byrne, Michelle R., Morrison, Alanna C., Hixson, James E., Northrup, Hope, Au, Kit Sing

“…The molecular mechanisms linking folate deficiency and neural tube defect (NTD) risk in offspring remain unclear. Folate transporters (SLC19A1, SLC46A1,…”
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