Valerie Drouin-Garraud

Valerie Drouin-Garraud

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Valerie Drouin-Garraud

Valerie Drouin-Garraud

Publications by authors named "Valerie Drouin-Garraud"

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Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Electrophoresis 2018 12 3;39(24):3123-3132. Epub 2018 Jul 3.

Service de Pharmacologie et d'Immunoanalyse, Laboratoire d'Etude du Métabolisme des Médicaments, CEA, INRA, Université Paris Saclay, Gif-sur-Yvette, France.

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http://doi.wiley.com/10.1002/elps.201800021
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http://dx.doi.org/10.1002/elps.201800021DOI Listing
December 2018

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Genet Med 2015 Aug 13;17(8):651-9. Epub 2014 Nov 13.

1] Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA [2] Department of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital (CHUV), Lausanne, Switzerland [3] Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/gim.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466PMC
August 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Orphanet J Rare Dis 2014 Dec 11;9:207. Epub 2014 Dec 11.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47-83 boulevard de l'hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1186/s13023-014-0207-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234PMC
December 2014

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Neurology 2013 Nov 23;81(21):1810-8. Epub 2013 Oct 23.

From Inserm Institut Cochin U1016 (K.A., C.J., F.B., A.L.), Paris; AP/HP (K.A.), Hôpital Ambroise Paré, Service d'explorations fonctionnelles, Boulogne-Billancourt; Université Versailles-Saint-Quentin en Yvelines (K.A.); AP-HP (O.D.), CHU Pitié-Salpêtrière, Service de Neuropathologie, Paris; AP-HP (C.J., D.S.), CHU Pitié-Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris; Inserm U1069 (L.C., C.V.), Tours; Université François Rabelais (L.C., C.V.), Tours; UPMC (D.S., E.F., B.F.), Inserm UMR975, CNRS 7225, Institut Cerveau Moelle, Paris; AP-HP (E.F., P.L.), Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, Paris; AP-HP (E.F., B.F.), Centre de Référence des Canalopathies Musculaires, Hôpital Pitié-Salpêtrière, Paris; Hospices Civils de Lyon (N.S.), Centre de Pathologie Est, Bron; Université Claude Bernard Lyon1-CNRS UMR5292-INSERM U1028 (N.S.); Centre de référence Maladies Neuromusculaires Rares (P.P., H.G.-B., C.V.), Rhône-Alpes; Hospices Civils de Lyon (P.P.), Hôpital de la Croix-Rousse, explorations fonctionnelles neurologiques, Lyon; Hospices Civils de Lyon (H.G.-B., C.V.), Hôpital Pierre Wertheimer, service d'électromyographie et pathologies neuromusculaires, Bron; CHU de Rouen (A.-L.B.-M.), Service de neurologie, Rouen; CHU de Rouen (V.D.-G.), Service de génétique, Rouen; CNRS UMR 8104 (F.B., A.L.), Paris; and Université Paris-Descartes-Paris 5 (F.B., A.L.), Paris, France.

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http://dx.doi.org/10.1212/01.wnl.0000436067.43384.0bDOI Listing
November 2013

Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders.

Heart Rhythm 2013 Oct 26;10(10):1492-8. Epub 2013 Jun 26.

Department of Cardiology, Rouen University Hospital, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2013.06.020DOI Listing
October 2013

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children.

J Pediatr 2013 Mar 26;162(3):593-9. Epub 2012 Sep 26.

Laboratory of Virology, Reference National Center for Cytomegalovirus-Associated Laboratory, Hospital Necker-Enfants-Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; University Paris, Descartes, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2012.08.009DOI Listing
March 2013

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.

Swiss Med Wkly 2012 4;142:w13670. Epub 2012 Sep 4.

Cardiology Department, University Hospital Zurich and University Hospital Balgrist, Zurich, Switzerland.

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http://dx.doi.org/10.4414/smw.2012.13670DOI Listing
January 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Prenatal revelation of Niemann-Pick disease type C in siblings.

Acta Paediatr 2008 Aug 28;97(8):1136-9. Epub 2008 Jun 28.

Department of Obstetrics and Gynecology, Rouen University Hospital Charles Nicolle, France.

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http://dx.doi.org/10.1111/j.1651-2227.2008.00829.xDOI Listing
August 2008

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

J Invest Dermatol 2003 Sep;121(3):478-81

Laboratoire de Génétique Oncologique, Institut Bergonié, 33076 Bordeaux, France.

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http://dx.doi.org/10.1046/j.1523-1747.2003.12423.xDOI Listing
September 2003