Publications by authors named "Francois-Guillaume Debray"

36Publications

How to recognize Cowden syndrome: A novel PTEN mutation description.

Ann Endocrinol (Paris) 2017 Jul 2;78(3):188-190. Epub 2017 Mar 2.

Service d'endocrinologie, CHU de Liège, rue de l'Hôpital 1, 4000 Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2017.01.001DOI Listing
July 2017

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

J Inherit Metab Dis 2015 Nov 14;38(6):1147-53. Epub 2015 May 14.

Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Gent University Hospital, Gent, Belgium.

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http://dx.doi.org/10.1007/s10545-015-9857-1DOI Listing
November 2015

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Hum Mutat 2015 Aug 11;36(8):743-52. Epub 2015 Jun 11.

Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1002/humu.22804DOI Listing
August 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Mitochondrion 2014 Jul 20;17:101-5. Epub 2014 Jun 20.

Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, 185 De Pintelaan, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.mito.2014.06.003DOI Listing
July 2014

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

J Inherit Metab Dis 2014 Sep 1;37(5):753-62. Epub 2014 May 1.

Department of Pediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France,

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http://dx.doi.org/10.1007/s10545-014-9716-5DOI Listing
September 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Surprising causes of C5-carnitine false positive results in newborn screening.

Mol Genet Metab 2014 Jan 19;111(1):52-4. Epub 2013 Nov 19.

Metabolic Unit, Human Genetics, CHU Liege, University of Liege, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2013.11.005DOI Listing
January 2014

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.

Mol Genet Metab 2013 Jun 23;109(2):227-9. Epub 2013 Apr 23.

Metabolic Unit, Department of Medical Genetics, CHU and University de Liège, Domaine Sart-Tilman Bât B35, B-4000 Liège, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.011DOI Listing
June 2013

Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease.

Pediatrics 2012 Apr 5;129(4):e1076-9. Epub 2012 Mar 5.

Department of Medical Genetics, CHU & University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1542/peds.2011-0568DOI Listing
April 2012

Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.

J Pediatr 2011 Jan 21;158(1):165, 165.e1. Epub 2010 Aug 21.

Pinocchio Centrum for Inborn Metabolic Diseases, Esperance Hospital, CHC, Liège, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2010.06.057DOI Listing
January 2011

Temple-Baraitser syndrome: a rare and possibly unrecognized condition.

Am J Med Genet A 2010 Sep;152A(9):2322-6

Center for Human Genetics, CHU & University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.33574DOI Listing
September 2010

Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.

J Child Neurol 2010 Aug 14;25(8):1000-2. Epub 2010 May 14.

Department of Human Genetics, CHU and University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1177/0883073809351983DOI Listing
August 2010

Disorders of mitochondrial function.

Curr Opin Pediatr 2008 Aug;20(4):471-82

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Sainte-Catherine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/MOP.0b013e328306ebb6DOI Listing
August 2008

Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies.

Am J Kidney Dis 2008 Apr;51(4):691-6

Division of Medical Genetics, Department of Pediatrics, Montreal Children Hospital, McGill University, Montreal, Québec, Canada.

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http://dx.doi.org/10.1053/j.ajkd.2007.11.024DOI Listing
April 2008

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.

Am J Med Genet A 2007 Sep;143A(17):2046-51

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Côte-Sainte-Catherine, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31880DOI Listing
September 2007

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.

Pediatrics 2007 Apr;119(4):722-33

Medical Genetics Division, Centre Hospitalier Universitaire Sainte-Justine, Université de Montreal, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1542/peds.2006-1866DOI Listing
April 2007

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.

Clin Chem 2007 May 23;53(5):916-21. Epub 2007 Mar 23.

Department of Pediatrics, Ste-Justine Hospital, Université de Montréal, Montreal, Quebec, Canada.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2006.081166
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http://dx.doi.org/10.1373/clinchem.2006.081166DOI Listing
May 2007

Recurrent pancreatitis in mitochondrial cytopathy.

Am J Med Genet A 2006 Nov;140(21):2330-5

Division of Medical Genetics, Hôpital Sainte-Justine, Montreal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31457DOI Listing
November 2006