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CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-74
By:
- Del Giudice, Ennio;
- Macca, Marina;
- Imperati, Floriana;
- D'Amico, Alessandra;
- Parent, Philippe;
- Pasquier, Laurent;
- Layet, Valerie;
- Lyonnet, Stanislas;
- Stamboul-Darmency, Veronique;
- Thauvin-Robinet, Christel;
- Franco, Brunella
Publication type:
Article
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Published in:
2014
By:
- Del Giudice, Ennio;
- Macca, Marina;
- Imperati, Floriana;
- D'Amico, Alessandra;
- Parent, Philippe;
- Pasquier, Laurent;
- Layet, Valerie;
- Lyonnet, Stanislas;
- Stamboul-Darmency, Veronique;
- Thauvin-Robinet, Christel;
- Franco, Brunella;
- Oral-Facial-Digital Type I (OFD1) Collaborative Group
Publication type:
journal article
Technical note: Emission factors, chemical composition, and morphology of particles emitted from Euro 5 diesel and gasoline light-duty vehicles during transient cycles.
Published in:
Atmospheric Chemistry & Physics, 2021, v. 21, n. 6, p. 4779, doi. 10.5194/acp-21-4779-2021
By:
- Kostenidou, Evangelia;
- Martinez-Valiente, Alvaro;
- R'Mili, Badr;
- Marques, Baptiste;
- Temime-Roussel, Brice;
- Durand, Amandine;
- André, Michel;
- Liu, Yao;
- Louis, Cédric;
- Vansevenant, Boris;
- Ferry, Daniel;
- Laffon, Carine;
- Parent, Philippe;
- D'Anna, Barbara
Publication type:
Article
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1444, doi. 10.1002/ajmg.a.38180
By:
- Redon, Sylvia;
- Benech, Caroline;
- Schutz, Sacha;
- Despres, Aurore;
- Gueguen, Paul;
- Le Berre, Pauline;
- Le Marechal, Cédric;
- Peudenier, Sylviane;
- Meriot, Philippe;
- Parent, Philippe;
- Ferec, Claude
Publication type:
Article
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 746, doi. 10.1038/ng.380
By:
- Jaglin, Xavier Hubert;
- Poirier, Karine;
- Saillour, Yoann;
- Buhler, Emmanuelle;
- Guoling Tian;
- Bahi-Buisson, Nadia;
- Fallet-Bianco, Catherine;
- Phan-Dinh-Tuy, Françoise;
- Xiang Peng Kong;
- Pascale Bomont;
- Castelnau-Ptakhine, Laëtitia;
- Odent, Sylvie;
- Loget, Philippe;
- Kossorotoff, Manoelle;
- Snoeck, Irina;
- Plessis, Ghislaine;
- Parent, Philippe;
- Beldjord, Cherif;
- Cardoso, Carlos;
- Represa, Alfonso
Publication type:
Article
The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients.
Published in:
2014
By:
- Marcos, Séverine;
- Sarfati, Julie;
- Leroy, Chrystel;
- Fouveaut, Corinne;
- Parent, Philippe;
- Metz, Chantal;
- Wolczynski, Slawomir;
- Gérard, Marion;
- Bieth, Eric;
- Kurtz, François;
- Verier-Mine, Odile;
- Perrin, Laurence;
- Archambeaud, Françoise;
- Cabrol, Sylvie;
- Rodien, Patrice;
- Hove, Hanne;
- Prescott, Trine;
- Lacombe, Didier;
- Christin-Maitre, Sophie;
- Touraine, Philippe
Publication type:
Journal Article
Technical note: Emission factors, chemical composition and morphology of particles emitted from Euro 5 diesel and gasoline light duty vehicles during transient cycles.
Published in:
Atmospheric Chemistry & Physics Discussions, 2020, p. 1, doi. 10.5194/acp-2020-842
By:
- Kostenidou, Evangelia;
- Martinez-Valiente, Alvaro;
- R'Mili, Badr;
- Marques, Baptiste;
- Temime-Roussel, Brice;
- André, Michel;
- Liu, Yao;
- Louis, Cédric;
- Vansevenant, Boris;
- Ferry, Daniel;
- Laffon, Carine;
- Parent, Philippe;
- D'Anna, Barbara
Publication type:
Article
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
Published in:
Human Genetics, 2002, v. 111, n. 3, p. 247, doi. 10.1007/s00439-002-0788-1
By:
- Scotet, Virginie;
- Gillet, Dominique;
- Duguépéroux, Ingrid;
- Audrézet, Marie-Pierre;
- Bellis, Gil;
- Garnier, Bénédicte;
- Roussey, Michel;
- Rault, Gilles;
- Parent, Philippe;
- De Braekeleer, Marc;
- Férec, Claude;
- Bretagne, Réseau Mucoviscidose;
- de Loire, Pays
Publication type:
Article
Mulches Used in Highbush Blueberry and Entomopathogenic Nematodes Affect Mortality Rates of Third-Instar Popillia japonica.
Published in:
Insects (2075-4450), 2021, v. 12, n. 10, p. 907, doi. 10.3390/insects12100907
By:
- Renkema, Justin M.;
- Parent, Jean-Philippe
Publication type:
Article
Physicochemical Characterization of Aerosols in the Coastal Zone: Evidence of Persistent Carbon Soot in the Marine Atmospheric Boundary Layer (MABL) Background.
Published in:
Atmosphere, 2023, v. 14, n. 2, p. 291, doi. 10.3390/atmos14020291
By:
- Parent, Philippe;
- Laffon, Carine;
- Trillaud, Victor;
- Grauby, Olivier;
- Ferry, Daniel;
- Limoges, Alix;
- Missamou, Tathy;
- Piazzola, Jacques
Publication type:
Article
Influence of Meteorological Conditions and Aerosol Properties on the COVID-19 Contamination of the Population in Coastal and Continental Areas in France: Study of Offshore and Onshore Winds.
Published in:
Atmosphere, 2021, v. 12, n. 4, p. 523, doi. 10.3390/atmos12040523
By:
- Piazzola, Jacques;
- Bruch, William;
- Desnues, Christelle;
- Parent, Philippe;
- Yohia, Christophe;
- Canepa, Elisa
Publication type:
Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269
By:
- Mercier, Sandra;
- Toutain, Annick;
- Toussaint, Aurélie;
- Raynaud, Martine;
- de Barace, Claire;
- Marcorelles, Pascale;
- Pasquier, Laurent;
- Blayau, Martine;
- Espil, Caroline;
- Parent, Philippe;
- Journel, Hubert;
- Lazaro, Leila;
- Andoni Urtizberea, Jon;
- Moerman, Alexandre;
- Faivre, Laurence;
- Eymard, Bruno;
- Maincent, Kim;
- Gherardi, Romain;
- Chaigne, Denys;
- Ben Yaou, Rabah
Publication type:
Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.74
By:
- Mercier, Sandra;
- Toutain, Annick;
- Toussaint, Aurélie;
- Raynaud, Martine;
- de Barace, Claire;
- Marcorelles, Pascale;
- Pasquier, Laurent;
- Blayau, Martine;
- Pénisson-Besnier, Isabelle;
- Romero, Norma;
- Espil, Caroline;
- Parent, Philippe;
- Journel, Hubert;
- Lazaro, Leila;
- Andoni Urtizberea, Jon;
- Moerman, Alexandre;
- Faivre, Laurence;
- Eymard, Bruno;
- Maincent, Kim;
- Gherardi, Romain
Publication type:
Article
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 4, p. 473, doi. 10.1038/sj.ejhg.5201787
By:
- Dehainault, Catherine;
- Michaux, Dorothée;
- Pagès-Berhouet, Sabine;
- Caux-Moncoutier, Virginie;
- Doz, François;
- Desjardins, Laurence;
- Couturier, Jérôme;
- Parent, Philippe;
- Stoppa-Lyonnet, Dominique;
- Gauthier-Villars, Marion;
- Houdayer, Claude
Publication type:
Article
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
By:
- Sanlaville, Damien;
- Genevieve, David;
- Bernardin, Céline;
- Amiel, Jeanne;
- Baumann, Clarisse;
- de Blois, Marie-Christine;
- Cormier-Daire, Valérie;
- Gerard, Bénédicte;
- Gerard, Marion;
- Le Merrer, Martine;
- Parent, Philippe;
- Prieur, Fabienne;
- Prieur, Marguerite;
- Raoul, Odile;
- Toutain, Annick;
- Verloes, Alain;
- Viot, Géraldine;
- Romana, Serge;
- Munnich, Arnold;
- Lyonnet, Stanislas
Publication type:
Article
Disruptive effects of non-specific airborne and substrate-borne vibrations on aphids.
Published in:
Journal of Pest Science, 2022, v. 95, n. 2, p. 949, doi. 10.1007/s10340-021-01425-9
By:
- Parent, Jean-Philippe;
- Laidlaw, Ryan;
- Abram, Paul K.
Publication type:
Article
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Published in:
2018
By:
- Vuillaume, Marie‐Laure;
- Jeanne, Médéric;
- Xue, Li;
- Blesson, Sophie;
- Denommé‐Pichon, Anne‐Sophie;
- Alirol, Servane;
- Brulard, Céline;
- Colin, Estelle;
- Isidor, Bertrand;
- Gilbert‐Dussardier, Brigitte;
- Odent, Sylvie;
- Parent, Philippe;
- Donnart, Audrey;
- Redon, Richard;
- Bézieau, Stéphane;
- Rondard, Philippe;
- Laumonnier, Frédéric;
- Toutain, Annick;
- Vuillaume, Marie-Laure;
- Denommé-Pichon, Anne-Sophie
Publication type:
Letter
Radical Photochemistry in Oxygen-Loaded Ices.
Published in:
Angewandte Chemie, 2006, v. 118, n. 25, p. 4265, doi. 10.1002/ange.200504509
By:
- Sandrine Lacombe;
- Fabrice Bournel;
- Carine Laffon;
- Philippe Parent
Publication type:
Article
Time perception-based decision making in a parasitoid wasp.
Published in:
Behavioral Ecology, 2017, v. 28, n. 3, p. 640, doi. 10.1093/beheco/arw171
By:
- Parent, Jean-Philippe;
- Keiji Takasu;
- Brodeur, Jacques;
- Boivin, Guy
Publication type:
Article
Size-induced phenotypic reaction norms in a parasitoid wasp: an examination of life-history and behavioural traits.
Published in:
Biological Journal of the Linnean Society, 2016, v. 117, n. 3, p. 620, doi. 10.1111/bij.12658
By:
- Abram, Paul K.;
- Parent, Jean-Philippe;
- Brodeur, Jacques;
- Boivin, Guy
Publication type:
Article
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 1, p. 19, doi. 10.1093/hmg/ddw364
By:
- Abramowicz, Iga;
- Carpenter, Gillian;
- Alfieri, Mariaevelina;
- Colnaghi, Rita;
- Outwin, Emily;
- Parent, Philippe;
- Thauvin-Robinet, Christel;
- Iaconis, Daniela;
- Franco, Brunella;
- O'Driscoll, Mark
Publication type:
Article
Use of time in a decision-making process by a parasitoid.
Published in:
Ecological Entomology, 2016, v. 41, n. 6, p. 727, doi. 10.1111/een.12354
By:
- PARENT, JEAN‐PHILIPPE;
- BRODEUR, JACQUES;
- BOIVIN, GUY
Publication type:
Article
Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16).
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2281, doi. 10.1002/ajmg.a.34162
By:
- Basinko, Audrey;
- Audebert-Bellanger, Séverine;
- Douet-Guilbert, Nathalie;
- Le Franc, Jérémie;
- Parent, Philippe;
- Quemener, Sylvia;
- La Selve, Philippe;
- Bovo, Clément;
- Morel, Frédéric;
- Le Bris, Marie-Josée;
- De Braekeleer, Marc
Publication type:
Article
Radical Photochemistry in Oxygen-Loaded Ices.
Published in:
Angewandte Chemie International Edition, 2006, v. 45, n. 25, p. 4159, doi. 10.1002/anie.200504509
By:
- Sandrine Lacombe;
- Fabrice Bournel;
- Carine Laffon;
- Philippe Parent
Publication type:
Article
Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France).
Published in:
Prenatal Diagnosis, 2008, v. 28, n. 3, p. 197, doi. 10.1002/pd.1910
By:
- Scotet, Virginie;
- Duguépéroux, Ingrid;
- Audrézet, Marie-Pierre;
- Blayau, Martine;
- Boisseau, Pierre;
- Journel, Hubert;
- Parent, Philippe;
- Férec, Claude
Publication type:
Article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
By:
- Thomas, Sophie;
- Encha-Razavi, Ferechté;
- Devisme, Louise;
- Etchevers, Heather;
- Bessieres-Grattagliano, Bettina;
- Goudefroye, Géraldine;
- Elkhartoufi, Nadia;
- Pateau, Emilie;
- Ichkou, Amale;
- Bonnière, Maryse;
- Marcorelle, Pascale;
- Parent, Philippe;
- Manouvrier, Sylvie;
- Holder, Muriel;
- Laquerrière, Annie;
- Loeuillet, Laurence;
- Roume, Joelle;
- Martinovic, Jelena;
- Mougou-Zerelli, Soumaya;
- Gonzales, Marie
Publication type:
Article
Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome.
Published in:
2004
By:
- Boog, Georges;
- Le Vaillant, Claudine;
- Collet, Michel;
- Dupré, Pierre François;
- Parent, Philippe;
- Bongain, André;
- Benoit, Bernard;
- Trastour, Claire;
- Dupré, Pierre François;
- Bongain, André
Publication type:
journal article
Evaluation of compounds for repellency of the multicoloured Asian lady beetle (Coleoptera: Coccinellidae) in vineyards.
Published in:
Canadian Entomologist, 2021, v. 153, n. 4, p. 470, doi. 10.4039/tce.2020.82
By:
- Glemser, Erik;
- McFadden-Smith, Wendy;
- Parent, Jean-Philippe
Publication type:
Article
First record of Euscelidius variegatus (Hemiptera: Cicadellidae) in eastern North America.
Published in:
Canadian Entomologist, 2019, v. 151, n. 5, p. 648, doi. 10.4039/tce.2019.36
By:
- Parent, Jean-Philippe;
- Bittner, Lori;
- Kits, Joel H.
Publication type:
Article
The entomology of vineyards in Canada.
Published in:
Canadian Entomologist, 2018, v. 150, n. 6, p. 697, doi. 10.4039/tce.2018.55
By:
- Vincent, Charles;
- Lowery, Tom;
- Parent, Jean-Philippe
Publication type:
Article

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