Epidemiologic and genetic aspects of spina bifida and other neural tube defects

Por Au, Kit Sing, Ashley-Koch, Allison, Northrup, Hope
Publicado em 2010

A 10 bp Deletion Polymorphism and 2 New Variations in the GLUT1 Gene Associated With Meningomyelocele

Por Cormier, Clint M., Au, Kit Sing, Northrup, Hope
Publicado em 2011

Genetic Studies of the Cystathionine Beta-Synthase Gene and Myelomeningocele

Por Tilley, Melissa M., Northrup, Hope, Au, Kit Sing
Publicado em 2011

Deep Sequencing Study of the MTHFR Gene to Identify Variants Associated with Myelomeningocele

Por Aneji, Chiamaka U, Northrup, Hope, Au, Kit Sing
Publicado em 2012

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

Por Kase, Benjamin A., Northrup, Hope, Au, Kit Sing
Publicado em 2013

Genetic variations in the GLUT3 gene associated with myelomeningocele

Por Connealy, Brendan D., Northrup, Hope, Au, Kit Sing
Publicado em 2014

Association of Facilitated Glucose Transporter 2 gene variants with the Myelomeningocele phenotype

Por Ruggiero, Jaclyn E, Northrup, Hope, Au, Kit Sing
Publicado no Birth Defects Res A Clin Mol Teratol (2015)

Complete Inactivation of the TSC2 Gene Leads to Formation of Hamartomas

Por Au, Kit-Sing, Hebert, Adelaide A., Roach, E. Steve, Northrup, Hope
Publicado em 1999

Maternal Gene-Micronutrient Interactions Related to One-Carbon Metabolism and the Risk of Myelomeningocele Among Offspring

Por Nguyen, Margaret, Lupo, Philip, Northrup, Hope, Morrison, Alanna, Cirino, Paul, Au, Kit Sing
Publicado no Birth Defects Res (2017)

Genetic Association of the Glycine Cleavage System Genes and Myelomeningocele

Por Shah, Rita H., Northrup, Hope, Hixson, James E., Morrison, Alanna C., Au, Kit Sing
Publicado no Birth Defects Res A Clin Mol Teratol (2016)

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Por Ruppe, Mary D, Brosnan, Patrick G, Au, Kit Sing, Tran, Phong X, Dominguez, Barbara W, Northrup, Hope
Publicado em 2011

Genes in Glucose Metabolism and Association With Spina Bifida

Por Davidson, Christina M., Northrup, Hope, King, Terri M., Fletcher, Jack M., Townsend, Irene, Tyerman, Gayle H., Au, Kit Sing
Publicado em 2008

Genetic Association Study of Putative Functional Single Nucleotide Polymorphisms of Genes in Folate Metabolism and Spina Bifida

Por Martinez, Carla A., Northrup, Hope, Lin, Jone-Ing, Morrison, Alanna C., Fletcher, Jack M., Tyerman, Gayle H., Au, Kit Sing
Publicado em 2009

Association of Retinoic Acid Receptor Genes with Meningomyelocele

Por Tran, Phong X., Au, Kit Sing, Morrison, Alanna C., Fletcher, Jack M., Ostermaier, Kathryn K., Tyerman, Gayle H., Northrup, Hope
Publicado em 2010

Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients

Por Spellicy, Catherine J., Northrup, Hope, Fletcher, Jack M., Cirino, Paul T., Dennis, Maureen, Morrison, Alanna C., Martinez, Carla A., Au, Kit Sing
Publicado em 2012

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

Por Wu, Joyce Y., Peters, Jurriaan M., Goyal, Monisha, Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit Sing, Cutter, Gary, Bebin, E. Martina
Publicado no Pediatr Neurol (2015)

Association of Folate Receptor (FOLR1, FOLR2, FOLR3) and Reduced Folate Carrier (SLC19A1) Genes with Meningomyelocele

Por O’Byrne, Michelle R., Au, Kit Sing, Morrison, Alanna C., Lin, Jone-Ing, Fletcher, Jack M., Ostermaier, Kathryn K., Tyerman, Gayle H., Doebel, Sabine, Northrup, Hope
Publicado em 2010

Association of Copper-Zinc Superoxide Dismutase (SOD1) and Manganese Superoxide Dismutase (SOD2) Genes with Non-syndromic Myelomeningocele

Por Kase, Benjamin A, Northrup, Hope, Morrison, Alanna C, Davidson, Christina M, Goiffon, Amanda M, Fletcher, Jack M, Ostermaier, Kathryn K, Tyerman, Gayle H, Au, Kit Sing
Publicado em 2012

Expression of the Neural Stem Cell Markers NG2 and L1 in Human Angiomyolipoma: Are Angiomyolipomas Neoplasms of Stem Cells?

Por Lim, So Dug, Stallcup, William, Lefkove, Benjamin, Govindarajan, Baskaran, Au, Kit Sing, Northrup, Hope, Lang, Deborah, Fisher, David E, Patel, Avani, Amin, Mahul B, Arbiser, Jack L
Publicado em 2007

Characteristics of a Spina Bifida Population Including North American Caucasian and Hispanic Individuals

Por Au, Kit Sing, Tran, Phong X., Tsai, Chester C., O’Byrne, Michelle R., Lin, Jone-Ing, Morrison, Alanna C., Hampson, Amy W., Cirino, Paul, Fletcher, Jack M., Ostermaier, Kathryn K., Tyerman, Gayle H., Doebel, Sabine, Northrup, Hope
Publicado em 2008