Xilma R Ortiz-Gonzalez, MD, PhD
机构: Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine
每年引用次数
引用次数
引用: 11,532
H-指数: 28
I10-指数 : 38
出版物: 76
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
Kevin A. Strauss , Lauren DuBiner , Mariella Simon , Michael Zaragoza
Proceedings of the National Academy of Sciences of the United States of America 110 ( 9) 3453 -3458
69
2013
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Patrick R. Blackburn , Oscar F. Chacon-Camacho , Xilma R. Ortiz-González , Mariana Reyes
American Journal of Medical Genetics Part A 176 ( 12) 2710 -2719
2
2018
Ganglioglioma arising from dysplastic cortex.
Xilma R. Ortiz-González , Sriram Venneti , Jaclyn A. Biegel , Lucy B. Rorke-Adams
Epilepsia 52 ( 9)
12
2011
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Xilma R. Ortiz-González , Jesus A. Tintos-Hernández , Kierstin Keller , Xueli Li
Annals of Neurology 83 ( 1) 153 -165
15
2018
Focal cortical dysplasia is more common in boys than in girls.
Xilma R. Ortiz-González , Annapurna Poduri , Colin M. Roberts , Joseph E. Sullivan
Epilepsy & Behavior 27 ( 1) 121 -123
13
2013
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Jessica X. Chong , Viviana Caputo , Ian G. Phelps , Lorenzo Stella
American Journal of Human Genetics 98 ( 4) 772 -781
46
2016
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Elaine Zackai , Elaine Zackai , Vishnu Anand Cuddapah , Laura Adang
American Journal of Medical Genetics Part A 185 ( 6) 1700 -1711
11
2021
Intraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuli
Darryl T Hamamoto , Xilma R Ortiz-González , Jun M Honda , Keith C Kajander
Pain 74 ( 2) 225 -234
24
1998
Mitochondrial dysfunction: a common denominator in neurodevelopmental disorders?
Xilma R Ortiz-González
Developmental neuroscience 43 ( 3-4) 222 -229
11
2021
PURA-related developmental and epileptic encephalopathy: phenotypic and genotypic spectrum
Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat
Neurology: Genetics 7 ( 6) e613 -e613
20
2021
Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy
Jesus A Tintos-Hernández , Adrian Santana , Kierstin N Keller , Xilma R Ortiz-González
Brain communications 3 ( 4) fcab215 -fcab215
3
2021
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
Joseph T Shieh , Jesus A Tintos-Hernández , Chaya N Murali , Monica Penon-Portmann
Human Genetics and Genomics Advances 4 ( 4)
2023
Erin Kelter, 5 Laurie H. Seaver, 6 Sansan Lee, 7 Graham Wiley, 8 Patrick M. Gaffney, 8 Klaas J. Wierenga, 9,* and Matthew N. Rasband
Chih-Chuan Wang , Xilma R Ortiz-González , Sabrina W Yum , Sara M Gill
2018
Intracranial calcifications in childhood: Part 1.
Fabrício Guimarães Gonçalves , Luca Caschera , Sara Reis Teixeira , Angela Nicole Viaene
Pediatric Radiology 50 ( 10) 1424 -1447
1
2020
Intracranial calcifications in childhood: Part 2
Fabricio Guimarães Gonçalves , Luca Caschera , Sara Reis Teixeira , Angela Nicole Viaene
Pediatric Radiology 50 ( 10) 1448 -1475
8
2020
In vivo neural differentiation potential of bone marrow derived multipotent adult progenitor cells in the mammalian brain.
Xilma Rosa Ortiz-Gonzalez
3893 -3893
2003
BrdU is not a reliable label for transplanted cells in the central nervous system
TC Burns , XR Ortiz-González , M Gutiérrez Pérez , CD Keene
Experimental Neurology 198 ( 2) 562
1
2006
Neural differentiation and incorporation of bone-marrow-derived multipotent adult progenitor cells after single-cell transplantation into blastocyst-stage mouse embryos.
CD Keene , Y Jiang , X Ortiz-Gonzalez , MS Chabbra
EXPERIMENTAL NEUROLOGY 175 ( 2) 417 -417
1
2002
Telemedicine, health disparities and seizure control in pediatric epilepsy during the COVID-19 pandemic
M Kaufman , M Fitzgerald , S Massey , S Fridinger
Epilepsia 25 -25
2021
Epilepsy Phenotype In Patients With Rare De Novo DYNC1H1 Variants
A Coppola , M Bak , D Barca , C Iliescu
EPILEPSIA 60 170 -171
2019