Publications by authors named "Christelle Golzio"

43Publications

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Am J Hum Genet 2020 04 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118572PMC
April 2020

Endoglin interacts with VEGFR2 to promote angiogenesis.

FASEB J 2018 06 11;32(6):2934-2949. Epub 2018 Jan 11.

Division of Medical Oncology, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1096/fj.201700867RRDOI Listing
June 2018

Mitochondrial Copy Number as a Biomarker for Autism?

Pediatrics 2016 04 31;137(4). Epub 2016 Mar 31.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811322PMC
April 2016

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway.

PLoS One 2015 5;10(10):e0139614. Epub 2015 Oct 5.

Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, North Carolina, United States of America; Department of Medicine, Division of Cardiology, Duke University Medical Center, Durham, North Carolina, United States of America; Duke University School of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593579PMC
June 2016

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.

J Neurosci 2015 May;35(18):7003-18

Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, Department of Cell Biology, Department of Neurobiology, and Duke Institute for Brain Sciences, Duke University Medical Center, Durham, North Carolina 27710

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http://dx.doi.org/10.1523/JNEUROSCI.0018-15.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420776PMC
May 2015

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Proc Natl Acad Sci U S A 2014 Oct 7;111(42):E4468-77. Epub 2014 Oct 7.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114; Departments of Neurology and Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142

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http://dx.doi.org/10.1073/pnas.1405266111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210312PMC
October 2014

In vivo modeling of the morbid human genome using Danio rerio.

J Vis Exp 2013 Aug 24(78):e50338. Epub 2013 Aug 24.

Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, USA.

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http://dx.doi.org/10.3791/50338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856313PMC
August 2013

Genetic architecture of reciprocal CNVs.

Curr Opin Genet Dev 2013 Jun 5;23(3):240-8. Epub 2013 Jun 5.

Center for Human Disease Modeling, Duke University, Durham 27710, USA.

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http://dx.doi.org/10.1016/j.gde.2013.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740179PMC
June 2013

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells.

EMBO J 2012 Oct 31;31(19):3885-900. Epub 2012 Aug 31.

Division of Medical Oncology, Department of Medicine, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1038/emboj.2012.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463850PMC
October 2012

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.

Prenat Diagn 2006 Dec;26(13):1201-5

INSERM U781, Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/pd.1588DOI Listing
December 2006