Magalie S Leduc

Magalie S Leduc

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Magalie S Leduc

Magalie S Leduc

Publications by authors named "Magalie S Leduc"

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23Publications

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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http://dx.doi.org/10.1007/s00439-018-1877-0DOI Listing
March 2018

A major X-linked locus affects kidney function in mice.

Mol Genet Genomics 2012 Dec 26;287(11-12):845-54. Epub 2012 Sep 26.

Texas Biomedical Research Institute, 7620 NW Loop 410, San Antonio, TX, USA.

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http://dx.doi.org/10.1007/s00438-012-0720-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508201PMC
December 2012

Uncovering genes and regulatory pathways related to urinary albumin excretion.

J Am Soc Nephrol 2011 Jan 28;22(1):73-81. Epub 2010 Oct 28.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1681/ASN.2010050561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014036PMC
January 2011

Untangling HDL quantitative trait loci on mouse chromosome 5 and identifying Scarb1 and Acads as the underlying genes.

J Lipid Res 2010 Sep 19;51(9):2706-13. Epub 2010 Jun 19.

Laboratory of Cardiovascular Research, West China Hospital, State Key Laboratory of Biotherapy, Sichuan University, Chengdu City, P.R. China.

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http://www.jlr.org/lookup/doi/10.1194/jlr.M008110
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http://dx.doi.org/10.1194/jlr.M008110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918452PMC
September 2010

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.

J Hum Genet 2008 17;53(11-12):1007-11. Epub 2008 Sep 17.

The Department of Internal Medicine, The University of Texas Medical School at Houston, 6431 Fannin, MSB 6.100, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s10038-008-0334-7DOI Listing
February 2009

Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA.

J Lipid Res 2008 Dec 1;49(12):2648-56. Epub 2008 Aug 1.

Human Genetics Center, Division of Epidemiology, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://www.jlr.org/lookup/doi/10.1194/jlr.M800155-JLR200
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http://dx.doi.org/10.1194/jlr.M800155-JLR200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582370PMC
December 2008