Publications by authors named "Philippe Parent"

41Publications

Interplay between Orientation at Electrodes and Copper Activation of Laccase for O Reduction.

J Am Chem Soc 2020 01 8;142(3):1394-1405. Epub 2020 Jan 8.

Aix Marseille Univ, CNRS, BIP UMR 7281 , 31 Chemin Aiguier , CS 70071, 13402 Marseille , Cedex 09 , France.

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http://dx.doi.org/10.1021/jacs.9b11147DOI Listing
January 2020

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Am J Med Genet A 2017 May 3;173(5):1444-1446. Epub 2017 Apr 3.

Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.

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http://dx.doi.org/10.1002/ajmg.a.38180DOI Listing
May 2017

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Hum Mol Genet 2017 01;26(1):19-32

Human DNA damage Response Disorders Group, Genome Damage & Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1093/hmg/ddw364DOI Listing
January 2017

How the Intricate Interactions between Carbon Nanotubes and Two Bilirubin Oxidases Control Direct and Mediated O2 Reduction.

ACS Appl Mater Interfaces 2016 Sep 25;8(35):23074-85. Epub 2016 Aug 25.

Aix Marseille Univ, CNRS , BIP, Bioénergétique et Ingénierie des Protéines UMR7281, 31 chemin Joseph Aiguier 13402 Marseille Cedex 20, France.

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http://dx.doi.org/10.1021/acsami.6b07355DOI Listing
September 2016

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

J Cyst Fibros 2016 07 22;15(4):452-9. Epub 2016 Mar 22.

Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.02.013DOI Listing
July 2016

Surface-enhanced nitrate photolysis on ice.

J Phys Chem A 2015 Mar 23;119(10):1996-2005. Epub 2015 Feb 23.

Département de Chimie, Université de Sherbrooke , 2500 boul. de l'Université, Sherbrooke, Québec, Canada J1K 2R1.

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http://dx.doi.org/10.1021/jp511173wDOI Listing
March 2015

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J Clin Endocrinol Metab 2014 Oct 31;99(10):E2138-43. Epub 2014 Jul 31.

EA7331 Faculté des Sciences Pharmaceutiques (S.M., C.D.), 75006 Paris, France; Laboratoire de Biologie et Génétique Moléculaires (J.S., C.L., C.F., C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service de Pédiatrie et de Génétique Médicale (P.P., C.M.), Centre Hospitalier Universitaire Morvan, 29200 Brest, France; Department of Reproduction and Gynecological Endocrinology (S.W.), PL-15-1276 Bialystok, Poland; Service de Génétique (M.G.), Centre Hospitalier Régional Clémenceau, 14033 Caen, France; Service de Génétique Médicale (E.B.), Hôpital Purpan, 31059 Toulouse, France; Service de Pédiatrie (F.K.), Hôpital Bel Air, 57126 Thionville, France; Service d'Edocrinologie (O.V.-M.), Centre Hospitalier, 59322 Valenciennes, France; UF de Génétique Clinique (L.P.), Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Service de Médecine et d'Endocrinologie (F.A.), Hôpital du Cluzeau, 87042 Limoges, France; Service d'Endocrinologie (S.C.), Hôpital Trousseau, and Service d'Endocrinologie (S.C.-M.), Hôpital St Antoine, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France; Service d'Endocrinologie (P.R.), Centre Hospitalier, 49933 Angers, France; Department of Clinical Genetics (H.H.), University Hospital, DK-1165 Copenhagen, Denmark; Department of Medical Genetics (T.P.), Hospital HF Rikshospital, 0424 Oslo, Norway; Service de Génétique Médicale (D.L.), Hôpital Pellegrin, 33076 Bordeaux, France; Service d'Endocrinologie (P.T.), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France; Service d'Endocrinologie (S.H.), Hôpital l'Archet, 06003 Nice, France; Service de Gynécologie Endocrinienne (D.D.), Hôpital Jeanne de Flandre, 59037 Lille, France; Service d'Endocrinologie (J.Y.), Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France; and Service d'Endocrinologie (M.P.), Hôpital Neurologiqu

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http://dx.doi.org/10.1210/jc.2014-2110DOI Listing
October 2014

A small de novo 16q24.1 duplication in a woman with severe clinical features.

Eur J Med Genet 2013 Apr 17;56(4):211-5. Epub 2013 Jan 17.

Institut National de la Santé et de la Recherche Médicale (INSERM), UMR1078, Brest, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.001DOI Listing
April 2013

Proton transfer reactions between nitric acid and acetone, hydroxyacetone, acetaldehyde and benzaldehyde in the solid phase.

Phys Chem Chem Phys 2012 Dec 23;14(45):15715-21. Epub 2012 Oct 23.

Laboratoire de Chimie Physique-Matière et Rayonnement, Université Pierre et Marie Curie (UPMC -Univ. Paris 06) and CNRS (UMR 7614), 11 rue Pierre et Marie Curie, 75231 Paris Cedex 05, France.

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http://dx.doi.org/10.1039/c2cp42033cDOI Listing
December 2012

Adsorption of acetaldehyde on ice as seen from computer simulation and infrared spectroscopy measurements.

Langmuir 2012 Mar 23;28(9):4198-207. Epub 2012 Feb 23.

Institut UTINAM-UMR CNRS 6213, Faculté des Sciences, Université de Franche-Comté, Besançon, France.

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http://dx.doi.org/10.1021/la204472kDOI Listing
March 2012

Interaction of acetone, hydroxyacetone, acetaldehyde and benzaldehyde with the surface of water ice and HNO3·3H2O ice.

Phys Chem Chem Phys 2012 Jan 22;14(2):697-704. Epub 2011 Nov 22.

Laboratoire de Chimie Physique-Matière et Rayonnement, Université Pierre et Marie Curie (UPMC-Université Paris 06) and CNRS (UMR 7614), Paris, France.

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http://dx.doi.org/10.1039/c1cp21707kDOI Listing
January 2012

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

Am J Med Genet A 2011 Sep 10;155A(9):2281-7. Epub 2011 Aug 10.

Laboratoire d'Histologie, Cytologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

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http://dx.doi.org/10.1002/ajmg.a.34162DOI Listing
September 2011

HCl adsorption on ice at low temperature: a combined X-ray absorption, photoemission and infrared study.

Phys Chem Chem Phys 2011 Apr 15;13(15):7142-8. Epub 2011 Mar 15.

Laboratoire de Chimie-Physique, Matière et Rayonnement, Université Pierre-et-Marie Curie (UPMC-Univ Paris 06) and CNRS (UMR 7614), 11 rue Pierre-et-Marie-Curie, 75231 Paris Cedex 05, France.

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http://dx.doi.org/10.1039/c0cp02864aDOI Listing
April 2011

Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18.

Am J Med Genet A 2010 Oct;152A(10):2646-50

Laboratoire d'Histologie, d'Embryologie et de Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, and Centre Hospitalier Universitaire de Brest, Brest, France.

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http://dx.doi.org/10.1002/ajmg.a.32982DOI Listing
October 2010

Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities.

Am J Med Genet A 2008 Nov;146A(22):2950-4

Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

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http://dx.doi.org/10.1002/ajmg.a.32522DOI Listing
November 2008

Radical photochemistry in oxygen-loaded ices.

Angew Chem Int Ed Engl 2006 Jun;45(25):4159-63

Laboratoire des Collisions Atomiques et Moléculaires, Université Paris Sud 11, 91405 Orsay Cedex, France.

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http://dx.doi.org/10.1002/anie.200504509DOI Listing
June 2006

Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome.

Fetal Diagn Ther 2004 Sep-Oct;19(5):421-30

Department of Obstetrics and Fetal Medicine, Pavillon Mère et Enfant, Centre Hospitalier et Universitaire de Nantes, Nantes, France.

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http://dx.doi.org/10.1159/000078995DOI Listing
January 2005

Prenatal diagnosis of mosaic tetrasomy 8p.

Am J Med Genet A 2003 Jul;120A(1):44-8

Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Université de Bretagne Occidentale, 22 avenue Camille Desmoulins, F-29285 Brest cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.20199DOI Listing
July 2003

Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.

Hum Genet 2002 Sep 1;111(3):247-54. Epub 2002 Aug 1.

INSERM EMI 01-15, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, CHU Morvan, UBO, EFS-Bretagne, 46 Rue Félix Le Dantec, BP 454, 29275 Brest Cédex, France.

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http://dx.doi.org/10.1007/s00439-002-0788-1DOI Listing
September 2002