Search Results - "Ortiz‐Gonzalez, Xilma R."

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup by Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.

“…Mutations of both nuclear and mitochondrial DNA (mtDNA)–encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction…”
Get full text

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy by Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan

“…Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we…”
Get full text

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy by Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.

“…Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause…”
Get full text

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers by Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.

“…N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate excitatory synaptic transmission. Genetic mutations in multiple NMDAR…”
Get full text

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry by Brimble, Elise, Reyes, Kathryn G, Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R Z, Ortiz-Gonzalez, Xilma R, Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather

“…We refine the clinical spectrum of FOXG1 syndrome and expand genotype-phenotype correlations through evaluation of 122 individuals enrolled in an international…”
Get full text

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 by Gustafson, Margaret A, McCormick, Elizabeth M, Perera, Lalith, Longley, Matthew J, Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C, McCormack, Shana E, Laskin, Benjamin L, Leroy, Bart P, Ortiz-Gonzalez, Xilma R, Ellington, Meredith G, Copeland, William C, Falk, Marni J

“…Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode…”
Get full text

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome by Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.

“…SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech,…”
Get full text

Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature by Cuddapah, Vishnu Anand, Dubbs, Holly A., Adang, Laura, Kugler, Steven L., McCormick, Elizabeth M., Zolkipli‐Cunningham, Zarazuela, Ortiz‐González, Xilma R., McCormack, Shana, Zackai, Elaine, Licht, Daniel J., Falk, Marni J., Marsh, Eric D.

“…Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct…”
Get full text

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy by Ortiz‐González, Xilma R., Tintos‐Hernández, Jesus A., Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha‐Goebel, Diana X., Kessler, Sudha K., Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Douglas C., Bönnemann, Carsten G.

“…Objective Autosomal‐recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiological function of TBCK remains…”
Get full text

Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? by Ortiz-González, Xilma R

“…Mitochondria, the organelles classically seen as the powerhouse of the cell, are increasingly associated with a wide variety of neurodevelopmental disorders…”
Get more information

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma by Blackburn, Patrick R., Chacon‐Camacho, Oscar F., Ortiz‐González, Xilma R., Reyes, Mariana, Lopez‐Uriarte, Graciela A., Zarei, Shabnam, Bhoj, Elizabeth J., Perez‐Solorzano, Sofia, Vaubel, Rachael A., Murphree, Marine I., Nava, Jessica, Cortes‐Gonzalez, Vianney, Parisi, Joseph E., Villanueva‐Mendoza, Cristina, Tirado‐Torres, Iris G., Li, Dong, Klee, Eric W., Pichurin, Pavel N., Zenteno, Juan C.

“…SOX2 is a transcription factor that is essential for maintenance of pluripotency and has several conserved roles in early embryonic development. Heterozygous…”
Get full text

Thymidine Analogs Are Transferred from Prelabeled Donor to Host Cells in the Central Nervous System After Transplantation: A Word of Caution by Burns, Terry C., Ortiz‐González, Xilma R., Gutiérrez‐Pérez, María, Keene, C. Dirk, Sharda, Rohit, Demorest, Zachary L., Jiang, Yuehua, Nelson‐Holte, Molly, Soriano, Mario, Nakagawa, Yasushi, Luquin, María Rosario, Garcia‐Verdugo, Jose Manuel, Prósper, Felipe, Low, Walter C., Verfaillie, Catherine M.

“…Thymidine analogs, including bromodeoxyuridine, chlorodeoxyuridine, iododeoxyuridine, and tritiated thymidine, label dividing cells by incorporating into DNA…”
Get full text

De novo GABRG2 mutations associated with epileptic encephalopathies by Shen, Dingding, Hernandez, Ciria C, Shen, Wangzhen, Hu, Ningning, Poduri, Annapurna, Shiedley, Beth, Rotenberg, Alex, Datta, Alexandre N, Leiz, Steffen, Patzer, Steffi, Boor, Rainer, Ramsey, Kerri, Goldberg, Ethan, Helbig, Ingo, Ortiz-Gonzalez, Xilma R, Lemke, Johannes R, Marsh, Eric D, Macdonald, Robert L

“…Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies with medication-resistant seizures and poor developmental outcomes…”
Get full text

Retraction Note: Pluripotency of mesenchymal stem cells derived from adult marrow by Jiang, Yuehua, Jahagirdar, Balkrishna N., Reinhardt, R. Lee, Schwartz, Robert E., Keene, C. Dirk, Ortiz-Gonzalez, Xilma R., Reyes, Morayma, Lenvik, Todd, Lund, Troy, Blackstad, Mark, Du, Jingbo, Aldrich, Sara, Lisberg, Aaron, Low, Walter C., Largaespada, David A., Verfaillie, Catherine M.

Get full text

Ganglioglioma arising from dysplastic cortex by Ortiz‐González, Xilma R., Venneti, Sriram, Biegel, Jaclyn A., Rorke‐Adams, Lucy B., Porter, Brenda E.

“…Summary We report the case of a child who presented at 3 months of age with complex partial seizures, a linear facial nevus, and magnetic resonance imaging…”
Get full text

Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos by Keene, C Dirk, Ortiz-Gonzalez, Xilma R, Jiang, Yuehua, Largaespada, David A, Verfaillie, Catherine M, Low, Walter C

“…Previously we reported the characterization of multipotent adult progenitor cells (MAPCs) isolated from the bone marrow of rodents. In that study, single…”
Get full text

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy by Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, Matthew N.

“…βIV spectrin links ankyrinG (AnkG) and clustered ion channels at axon initial segments (AISs) and nodes of Ranvier to the axonal cytoskeleton. Here, we report…”
Get full text

Focal cortical dysplasia is more common in boys than in girls by Ortiz-González, Xilma R, Poduri, Annapurna, Roberts, Colin M, Sullivan, Joseph E, Marsh, Eric D, Porter, Brenda E

“…Abstract Genetics and environment likely contribute to the development of medically intractable epilepsy; however, in most patients the specific combination of…”
Get full text

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients by Millichap, John J, Park, Kristen L, Tsuchida, Tammy, Ben-Zeev, Bruria, Carmant, Lionel, Flamini, Robert, Joshi, Nishtha, Levisohn, Paul M, Marsh, Eric, Nangia, Srishti, Narayanan, Vinodh, Ortiz-Gonzalez, Xilma R, Patterson, Marc C, Pearl, Phillip L, Porter, Brenda, Ramsey, Keri, McGinnis, Emily L, Taglialatela, Maurizio, Tracy, Molly, Tran, Baouyen, Venkatesan, Charu, Weckhuysen, Sarah, Cooper, Edward C

“…To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as…”
Get full text

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder by Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

“…Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale…”
Get full text