Jean-Pierre Desvignes

Jean-Pierre Desvignes

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Jean-Pierre Desvignes

Jean-Pierre Desvignes

Publications by authors named "Jean-Pierre Desvignes"

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33Publications

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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 May;12(5):e002500

Département de génétique médicale, APHM, Hôpital d'enfants de la Timone, Marseille, France. Aix Marseille University, INSERM, Marseille Medical Genetics, Faculté de Médecine, France (K.N., S.R., D.S., J.-P.D., M.C., F.M., C.B., N.L.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002500DOI Listing
May 2019

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Metabolism 2017 06 28;71:213-225. Epub 2017 Mar 28.

Aix Marseille Univ, INSERM, GMGF, Marseille, France; Department of Medical Genetics, Molecular genetics Laboratory, La Timone Children's Hospital, 264 Rue Saint Pierre, 13005, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2017.03.011DOI Listing
June 2017

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

Hum Mutat 2016 12 26;37(12):1272-1282. Epub 2016 Sep 26.

Aix Marseille University, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1002/humu.23110DOI Listing
December 2016

In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.

PLoS One 2014 14;9(8):e104998. Epub 2014 Aug 14.

IRCM, Institut de Recherche en Cancérologie de Montpellier, Montpellier, France; INSERM, U896, Montpellier, France; Université Montpellier1, Montpellier, France; ICM, Institut régional du Cancer Montpellier, Montpellier, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104998PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133367PMC
March 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

J Neurol Neurosurg Psychiatry 2016 Mar 17;87(3):340-2. Epub 2015 Mar 17.

APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1136/jnnp-2014-309663DOI Listing
March 2016

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Blood 2015 Sep 6;126(11):1273-80. Epub 2015 Jul 6.

Aix-Marseille Université, INSERM, Unité Mixte de Recherche S910, Marseille, France; Assistance Publique-Hopitaux de Marseille, Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France; Assistance Publique-Hopitaux de Marseille, Laboratoire de Biochimie, Hôpital Conception, Marseille, France;

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http://dx.doi.org/10.1182/blood-2015-04-642496DOI Listing
September 2015

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo.

Cell Rep 2015 Aug 6;12(7):1205-16. Epub 2015 Aug 6.

mRNA Regulation and Development, Institut de Génétique Humaine, CNRS, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.07.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626872PMC
August 2015

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.

Muscle Nerve 2014 Dec 30;50(6):1007-10. Epub 2014 Oct 30.

Aix Marseille Université, INSERM, GMGF, UMR_S 910, 13385, Marseille, France; APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, 13385, France.

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http://dx.doi.org/10.1002/mus.24344DOI Listing
December 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

PLoS Genet 2014 May 1;10(5):e1004311. Epub 2014 May 1.

Unité de Génétique Médicale et Laboratoire International associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1371/journal.pgen.1004311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006740PMC
May 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Eur J Hum Genet 2014 Mar 12;22(3):363-8. Epub 2013 Jun 12.

1] Inserm, U910, Faculté de Médecine de La Timone, Marseille, France [2] Aix Marseille Université, Faculté de Médecine, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2013.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925263PMC
March 2014

A genetic screen for functional partners of condensin in fission yeast.

G3 (Bethesda) 2014 Feb 19;4(2):373-81. Epub 2014 Feb 19.

LBMC, CNRS UMR 5239, Ecole Normale Supérieure de Lyon, Université Claude Bernard Lyon 1, Lyon, France, F-69364.

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http://dx.doi.org/10.1534/g3.113.009621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931570PMC
February 2014

Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling.

Proc Natl Acad Sci U S A 2012 Feb 6;109(8):3047-52. Epub 2012 Feb 6.

Centre National de la Recherche Scientifique Unité Mixte de Recherche 5203, Institut de Génomique Fonctionnelle, F-34000 Montpellier, France.

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http://dx.doi.org/10.1073/pnas.1109457109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286958PMC
February 2012