Publications by authors named "Pascale Hilbert"

16Publications

Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.

J Allergy Clin Immunol 2020 Aug 24. Epub 2020 Aug 24.

Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium; Department of Pediatrics, Division of Pediatric Pulmonology, Infectious Diseases and Immunology, Ghent University Hospital, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.08.014DOI Listing
August 2020

Detection of a novel mutation in a Tunisian child with polycystic kidney disease.

IUBMB Life 2020 Aug 30;72(8):1799-1806. Epub 2020 May 30.

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

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http://dx.doi.org/10.1002/iub.2309DOI Listing
August 2020

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

Two novel GJA1 variants in oculodentodigital dysplasia.

Mol Genet Genomic Med 2019 09 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

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

Gene 2018 Sep 1;671:28-35. Epub 2018 Jun 1.

Laboratory of Human Molecular Genetics, Faculty of Medicine, Magida Boulila Street, 3029 Sfax, University of Sfax, Tunisia; Medical Genetics Department of HediChaker Hospital, Route El Ain, Sfax 3089, Tunisia.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119183062
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http://dx.doi.org/10.1016/j.gene.2018.05.112DOI Listing
September 2018

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney Int Rep 2018 May 2;3(3):652-660. Epub 2018 Feb 2.

Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ekir.2018.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976824PMC
May 2018

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

J Am Soc Nephrol 2014 Dec 22;25(12):2740-51. Epub 2014 May 22.

Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France;

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http://dx.doi.org/10.1681/ASN.2013080912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243343PMC
December 2014

AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.

Ann Endocrinol (Paris) 2013 Feb 18;74(1):59-61. Epub 2013 Jan 18.

Department of pediatric endocrinology, Children's medical center, Tehran university of medical sciences, Tehran, Iran.

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http://dx.doi.org/10.1016/j.ando.2012.11.008DOI Listing
February 2013

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Eur J Hum Genet 2013 May 12;21(5):540-9. Epub 2012 Sep 12.

Unidade de Investigação e Desenvolvimento, Departamento de Genética, Centro de Genética Médica Dr Jacinto Magalhães, Instituto Nacional de Saúde Dr Ricardo Jorge, IP, Porto, Portugal.

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http://www.nature.com/articles/ejhg2012201
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http://dx.doi.org/10.1038/ejhg.2012.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641378PMC
May 2013

Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.

Int J Cardiol 2013 Sep 16;167(6):2555-60. Epub 2012 Jul 16.

Department of Internal Medicine, Division of Nephrology, Regionaal Ziekenhuis Jan Yperman, Ieper, Belgium.

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http://dx.doi.org/10.1016/j.ijcard.2012.06.069DOI Listing
September 2013

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Eur J Hum Genet 2008 Mar 9;16(3):305-11. Epub 2008 Jan 9.

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

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http://dx.doi.org/10.1038/sj.ejhg.5201978DOI Listing
March 2008