Publications by authors named "Jacqueline Bou"

14Publications

Blood functional assay for rapid clinical interpretation of germline variants.

J Med Genet 2020 Oct 13. Epub 2020 Oct 13.

Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.

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http://dx.doi.org/10.1136/jmedgenet-2020-107059DOI Listing
October 2020

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Acta Neuropathol Commun 2019 12 3;7(1):191. Epub 2019 Dec 3.

Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.

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http://dx.doi.org/10.1186/s40478-019-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892231PMC
December 2019

Predictive Value of NRAMP1 and HGPX1 Gene Polymorphism for Maintenance BCG Response in Non-muscle-invasive Bladder Cancer.

Anticancer Res 2016 Apr;36(4):1737-43

Department of Urology, Rouen University Hospital, Rouen, France Clinical Investigation Center, Inserm 6204, Onco-Urology Group, Rouen, France

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April 2016

A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis.

Am J Med Genet A 2011 Jun 12;155A(6):1500-2. Epub 2011 May 12.

Inserm U, Faculty of Medicine, University of Rouen, Department of Genetics, University Hospital, Institute for Medical Research and Innovation, France.

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http://dx.doi.org/10.1002/ajmg.a.34017DOI Listing
June 2011

No pathogenic rearrangement within the DISC 1 gene in psychosis.

Am J Med Genet B Neuropsychiatr Genet 2009 Jan;150B(1):148-50

INSERM U, IFRMP, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.b.30753DOI Listing
January 2009

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila.

Hum Mol Genet 2007 Mar 19;16(5):555-66. Epub 2007 Feb 19.

Inserm U614 (IFRMP), University of Rouen & Department of Genetics, Rouen University Hospital, Institute for Biomedical Research, Rouen, France.

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http://dx.doi.org/10.1093/hmg/ddm011DOI Listing
March 2007

Is the saitohin gene involved in neurodegenerative diseases?

Ann Neurol 2002 Dec;52(6):829-32

INSERM U535, Le Kremlin Bicêtre Cedex, University Hospital Bichat, University Paris, Paris, France.

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http://dx.doi.org/10.1002/ana.10384DOI Listing
December 2002