Valerie Benoit

Valerie Benoit

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Valerie Benoit

Valerie Benoit

Publications by authors named "Valerie Benoit"

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36Publications

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Two novel GJA1 variants in oculodentodigital dysplasia.

Mol Genet Genomic Med 2019 Sep 25;7(9):e882. Epub 2019 Jul 25.

Centre for Molecular Medicine and Biobanking, University of Malta, Msida, Malta.

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http://dx.doi.org/10.1002/mgg3.882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732303PMC
September 2019

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.

Acta Clin Belg 2019 Aug 10:1-9. Epub 2019 Aug 10.

a Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax , Sfax , Tunisia.

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https://www.tandfonline.com/doi/full/10.1080/17843286.2019.1
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http://dx.doi.org/10.1080/17843286.2019.1655231DOI Listing
August 2019

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia.

Clin Case Rep 2019 Jul 3;7(7):1352-1354. Epub 2019 Jun 3.

Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.

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http://dx.doi.org/10.1002/ccr3.2228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637348PMC
July 2019

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

Int J Pediatr Otorhinolaryngol 2017 Dec 28;103:14-19. Epub 2017 Sep 28.

Université de Tunis El Manar, Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.ijporl.2017.09.029DOI Listing
December 2017

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Nephrol Dial Transplant 2017 May;32(5):830-837

Division of Nephrology, Cliniques universitaires Saint-Luc, Brussels, Belgium.

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http://dx.doi.org/10.1093/ndt/gfw271DOI Listing
May 2017

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Am J Med Genet A 2016 11 22;170(11):2927-2933. Epub 2016 Jun 22.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37792DOI Listing
November 2016

Novel mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

J Med Genet 2016 Nov 22;53(11):776-785. Epub 2016 Jun 22.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2015-103695DOI Listing
November 2016

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Am J Med Genet A 2015 Jul 8;167(7):1483-92. Epub 2015 Mar 8.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37026DOI Listing
July 2015

DYRK1A mutations in two unrelated patients.

Eur J Med Genet 2015 Mar 30;58(3):168-74. Epub 2015 Jan 30.

Centre de Génétique Humaine, CHU Besançon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.014DOI Listing
March 2015

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

J Child Neurol 2014 Aug 17;29(8):NP18-23. Epub 2013 Jul 17.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.

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http://dx.doi.org/10.1177/0883073813492895DOI Listing
August 2014

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Am J Med Genet A 2014 May 24;164A(5):1289-92. Epub 2014 Mar 24.

Center for Human Genetics, IPG, Charleroi, (Gosselies), Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36442DOI Listing
May 2014

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

Eur J Med Genet 2014 Apr 5;57(5):212-5. Epub 2014 Mar 5.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2014.02.003DOI Listing
April 2014

Protein quality affects bone status during moderate protein restriction in growing mice.

Bone 2014 Feb 24;59:7-13. Epub 2013 Oct 24.

UMR 914 INRA-AgroParisTech, Nutrition Physiology and Ingestive Behavior, 75005 Paris, France.

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http://dx.doi.org/10.1016/j.bone.2013.10.013DOI Listing
February 2014

Consumption of yogurts fortified in vitamin D and calcium reduces serum parathyroid hormone and markers of bone resorption: a double-blind randomized controlled trial in institutionalized elderly women.

J Clin Endocrinol Metab 2013 Jul 7;98(7):2915-21. Epub 2013 May 7.

Division of Bone Diseases, University Hospitals and Faculty of Medicine, CH-1211 Geneva, Switzerland.

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http://dx.doi.org/10.1210/jc.2013-1274DOI Listing
July 2013

Consumption of vitamin D-and calcium-fortified soft white cheese lowers the biochemical marker of bone resorption TRAP 5b in postmenopausal women at moderate risk of osteoporosis fracture.

J Nutr 2012 Apr 22;142(4):698-703. Epub 2012 Feb 22.

Division of Bone Diseases, Geneva University Hospitals and Faculty of Medicine, WHO Collaborating Center for Osteoporosis Prevention, Geneva, Switzerland.

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https://academic.oup.com/jn/article/142/4/698/4630895
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http://dx.doi.org/10.3945/jn.111.153692DOI Listing
April 2012

Inhibition of markers of bone resorption by consumption of vitamin D and calcium-fortified soft plain cheese by institutionalised elderly women.

Br J Nutr 2009 Oct 18;102(7):962-6. Epub 2009 May 18.

WHO Collaborating Center for Osteoporosis Prevention, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1017/S0007114509371743DOI Listing
October 2009

Evaluation of original dual thromboxane A2 modulators as antiangiogenic agents.

J Pharmacol Exp Ther 2006 Sep 23;318(3):1057-67. Epub 2006 May 23.

Natural and Synthetic Drugs Research Center, Laboratory of Medicinal Chemistry, University of Liège, B-4000 Liège, Belgium.

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http://jpet.aspetjournals.org/cgi/doi/10.1124/jpet.106.10118
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http://dx.doi.org/10.1124/jpet.106.101188DOI Listing
September 2006

Peroxisome proliferator-activated receptor-gamma1 is dephosphorylated and degraded during BAY 11-7085-induced synovial fibroblast apoptosis.

J Biol Chem 2006 Aug 9;281(32):22597-604. Epub 2006 Jun 9.

Center for Biomedical Integrative Genoproteomics (CBIG), Department of Rheumatology, Department of Medical Chemistry and Human Genetics and Department of Orthopedic Surgery, University of Liège, 4000 Liège, Belgium.

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http://dx.doi.org/10.1074/jbc.M512807200DOI Listing
August 2006

TNFalpha- and IKKbeta-mediated TANK/I-TRAF phosphorylation: implications for interaction with NEMO/IKKgamma and NF-kappaB activation.

Biochem J 2006 Mar;394(Pt 3):593-603

Laboratory of Medical Chemistry and Human Genetics, Center for Biomedical Integrated Genoproteomics, University of Liege, Sart-Tilman, B-4000 Liege, Belgium.

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http://dx.doi.org/10.1042/BJ20051659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1383709PMC
March 2006

Low daunomycin concentrations protect colorectal cancer cells from hypoxia-induced apoptosis.

Oncogene 2005 Mar;24(10):1788-93

Laboratory of Medical Chemistry and Human Genetics, Center for Biomedical Integrated Genoproteomics, University of Liège, Belgium.

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http://www.nature.com/articles/1208436
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http://dx.doi.org/10.1038/sj.onc.1208436DOI Listing
March 2005

First and second generations of COX-2 selective inhibitors.

Mini Rev Med Chem 2004 Aug;4(6):597-601

Natural and Synthetic Drugs Research Centre, Laboratory of Medicinal Chemistry, University of Liège, 1 av. de l'Hôpital, tour 4(+5) Sart-Tilman, B-4000 Liège, Belgium.

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http://dx.doi.org/10.2174/1389557043403693DOI Listing
August 2004

Caspase-8-dependent HER-2 cleavage in response to tumor necrosis factor alpha stimulation is counteracted by nuclear factor kappaB through c-FLIP-L expression.

Cancer Res 2004 Apr;64(8):2684-91

Laboratory of Medical Chemistry and Human Genetics, Center for Molecular and Cellular Therapy and Center for Research in Experimental Cancerology, University of Liege, Liege, Belgium.

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April 2004

Regulation of HER-2 oncogene expression by cyclooxygenase-2 and prostaglandin E2.

Oncogene 2004 Feb;23(8):1631-5

Laboratory of Medical Chemistry and Human Genetics, Center for Molecular and Cellular Therapy, University of Liège, Belgium.

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http://dx.doi.org/10.1038/sj.onc.1207295DOI Listing
February 2004

Identification of cytokine-induced nuclear factor-kappaB target genes in ovarian and breast cancer cells.

Biochem Pharmacol 2002 Sep;64(5-6):873-81

Laboratories of Clinical Chemistry and Human Genetics, Center for Molecular and Cellular Therapy, University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1016/s0006-2952(02)01151-6DOI Listing
September 2002

NF-kappaB-dependent MnSOD expression protects adenocarcinoma cells from TNF-alpha-induced apoptosis.

Oncogene 2002 May;21(24):3917-24

Laboratory of Medical Chemistry and Human Genetics, Center for Cellular and Molecular Therapy, CHU B35, Sart-Tilman, University of Liège, 4000 Liège, Belgium..

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http://dx.doi.org/10.1038/sj.onc.1205489DOI Listing
May 2002