Xilma R Ortiz-Gonzalez

Xilma R Ortiz-Gonzalez

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Xilma R Ortiz-Gonzalez

Xilma R Ortiz-Gonzalez

Publications by authors named "Xilma R Ortiz-Gonzalez"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://link.springer.com/10.1007/s10048-019-00578-1
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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Expanding the phenotype of de novo -linked mitochondrial disease to include mild myopathy.

Neurol Genet 2018 Aug 20;4(4):e256. Epub 2018 Jul 20.

Medical Research Council Mitochondrial Biology Unit (M.S.K., E.R.S.K.), University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, UK; Wellcome Centre for Mitochondrial Research (K.T., S.H., L.H., R.W.D.), Institute of Neuroscience, Newcastle University, UK; and Department of Neurology (X.R.O.), Perelman School of Medicine, Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania.

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http://dx.doi.org/10.1212/NXG.0000000000000256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055355PMC
August 2018

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

Am J Hum Genet 2018 06 31;102(6):1158-1168. Epub 2018 May 31.

Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992132PMC
June 2018

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ann Neurol 2018 01;83(1):153-165

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://doi.wiley.com/10.1002/ana.25130
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http://dx.doi.org/10.1002/ana.25130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876123PMC
January 2018

NIPBL haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Sci Rep 2018 01 18;8(1):1056. Epub 2018 Jan 18.

Division of Human Genetics, The Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.

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http://dx.doi.org/10.1038/s41598-018-19173-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773608PMC
January 2018

Focal cortical dysplasia is more common in boys than in girls.

Epilepsy Behav 2013 Apr 13;27(1):121-3. Epub 2013 Feb 13.

Department of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.yebeh.2012.12.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930197PMC
April 2013

Ganglioglioma arising from dysplastic cortex.

Epilepsia 2011 Sep 10;52(9):e106-8. Epub 2011 Jun 10.

Department of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03124.xDOI Listing
September 2011

Neural induction of adult bone marrow and umbilical cord stem cells.

Curr Neurovasc Res 2004 Jul;1(3):207-13

Department of Neurosurgery, Graduate Program in Neuroscience, Stem Cell Institute, University of Minnesota Medical School, Minneapolis, 55455, USA.

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July 2004