Xilma R. Ortiz-Gonzalez, Ph.D.
Affiliations: | University of Minnesota, Twin Cities, Minneapolis, MN |
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"Xilma Ortiz-Gonzalez"Mean distance: 23748
Parents
Sign in to add mentor| Walter C. Low | grad student | 2004 | UMN | |
| (In vivo neural differentiation potential of bone marrow derived multipotent adult progenitor cells in the mammalian brain.) | ||||
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| Gustafson MA, McCormick EM, Perera L, et al. (2019) Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. Plos One. 14: e0221829 |
| Cardenas-Diaz FL, Osorio-Quintero C, Diaz-Miranda MA, et al. (2019) Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. Cell Stem Cell. 25: 273-289.e5 |
| Beck DB, Subramanian T, Vijayalingam S, et al. (2019) A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics |
| Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, et al. (2018) Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. American Journal of Medical Genetics. Part A |
| Snijders Blok L, Hiatt SM, Bowling KM, et al. (2018) De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics |
| Mills JA, Herrera PS, Kaur M, et al. (2018) NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Scientific Reports. 8: 1056 |
| Straub J, Konrad EDH, Grüner J, et al. (2017) Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics |
| Shen D, Hernandez CC, Shen W, et al. (2016) De novo GABRG2 mutations associated with epileptic encephalopathies. Brain : a Journal of Neurology |
| Li D, Yuan H, Ortiz-Gonzalez XR, et al. (2016) GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American Journal of Human Genetics |
| Chong JX, Caputo V, Phelps IG, et al. (2016) Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American Journal of Human Genetics |