Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Xilma R. Ortiz-González"'
Autor:
Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
Summary: Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumul
Externí odkaz:
https://doaj.org/article/965a160fc4094ecfbc3483a36e5e6fc3
Autor:
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded byFTLandFTH1, respectively. Heterozygous variants inFTLcause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e468d10d9be433607d8768fc65e418b4
https://doi.org/10.1101/2023.01.30.23285099
https://doi.org/10.1101/2023.01.30.23285099
Autor:
Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. Methods The FOXG1 syndrome online patient registry
Externí odkaz:
https://doaj.org/article/3b64a88bf2e4498fa667eb61c8835c14
Autor:
Xilma R, Ortiz-González, Sriram, Venneti, Jaclyn A, Biegel, Lucy B, Rorke-Adams, Brenda E, Porter
Publikováno v:
Epilepsia. 52(9)
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 (MRI) showing delayed myelination and thickened cortex in the left temporal, parietal, and occipital r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfe0be81a49d982cf6149b28aeb2cc3d
https://pubmed.ncbi.nlm.nih.gov/21668439
https://pubmed.ncbi.nlm.nih.gov/21668439
Autor:
C. Dirk Keene, Xilma R. Ortiz-Gonzalez, Yuehua Jiang, David A. Largaespada, Catherine M. Verfaillie, Walter C. Low P.H.D
Publikováno v:
Cell Transplantation, Vol 12 (2003)
Previously we reported the characterization of multipotent adult progenitor cells (MAPCs) isolated from the bone marrow of rodents. In that study, single murine MAPCs derived from ROSA-26, β-galactosidase (β-Gal)-positive transgenic mice were injec
Externí odkaz:
https://doaj.org/article/d7cf2f698f384c239d9158581adcc044