Pesquisa | Biblioteca Virtual em Saúde

1.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye-Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne-Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Philippe; Leheup, Bruno; Marlin, Sandrine; Verloes, Alain; Michaud, Vincent; Nadeau, Gwenael; Mignot, Cyril; Parent, Philippe; Rossi, Massimiliano; Toutain, Annick; Schaefer, Elise; Thauvin-Robinet, Christel; Van Maldergem, Lionel; Thevenon, Julien; Satre, Véronique; Perrin, Laurence; Vincent-Delorme, Catherine; Sorlin, Arthur; Missirian, Chantal; Villard, Laurent; Mancini, Julien; Saugier-Veber, Pascale; Philip, Nicole.

Am J Med Genet A; 170(11): 2847-2859, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-27605097

2.

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Bataille, Pauline; Michaud, Vincent; Robert, Matthieu P; Bekel, Lilia; Leclerc-Mercier, Stéphanie; Harroche, Annie; Célérier, Charlotte; Lasseaux, Eulalie; Borgel, Delphine; Bremond-Gignac, Dominique; Bodemer, Christine; Arveiler, Benoit; Hadj-Rabia, Smaïl.

Clin Genet; 2019 Nov 06.

Artigo em Inglês | MEDLINE | ID: mdl-31694064

3.

Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.

Godillot, Clothilde; Severino-Freire, Maella; Michaud, Vincent; Boralevi, Franck; Labrèze, Christine; Guigonis, Vincent; Onnis, Giuliana; Morice-Picard, Fanny; Mazereeuw-Hautier, Juliette.

Acta Derm Venereol; 99(10): 921-922, 2019 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-31099403

4.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

Michaud, Vincent; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Pennamen, Perrine; Plaisant, Claudio; Lasseaux, Eulalie; Arveiler, Benoit.

Ophthalmic Genet; 40(2): 161-164, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30942644

5.

African swine fever virus isolate, Georgia, 2007.

Rowlands, Rebecca J; Michaud, Vincent; Heath, Livio; Hutchings, Geoff; Oura, Chris; Vosloo, Wilna; Dwarka, Rahana; Onashvili, Tinatin; Albina, Emmanuel; Dixon, Linda K.

Emerg Infect Dis; 14(12): 1870-4, 2008 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19046509

6.

Molecular characterization of a series of 990 index patients with albinism.

Lasseaux, Eulalie; Plaisant, Claudio; Michaud, Vincent; Pennamen, Perrine; Trimouille, Aurelien; Gaston, Laetitia; Monfermé, Solène; Lacombe, Didier; Rooryck, Caroline; Morice-Picard, Fanny; Arveiler, Benoît.

Pigment Cell Melanoma Res; 31(4): 466-474, 2018 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-29345414

7.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

Monfermé, Solene; Lasseaux, Eulalie; Duncombe-Poulet, Catherine; Hamel, Christian; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Zanlonghi, Xavier; Dollfus, Hélène; Perdomo, Yaurama; Bonneau, Dominique; Korobelnik, Jean-François; Plaisant, Claudio; Michaud, Vincent; Pennamen, Perrine; Rooryck-Thambo, Caroline; Morice-Picard, Fanny; Paya, Clement; Arveiler, Benoit.

Br J Ophthalmol; 2018 Nov 24.

Artigo em Inglês | MEDLINE | ID: mdl-30472657

8.

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Verloes, Alain; Perdomo-Trujillo, Yaumara; Hamel, Christian; Elcioglu, Nursel H; Leroy, Bart; Kaplan, Josseline; Jouk, Pierre-Simon; Lacombe, Didier; Fergelot, Patricia; Morice-Picard, Fanny; Arveiler, Benoit.

Pigment Cell Melanoma Res; 30(6): 563-570, 2017 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-28640947

9.

Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis.

Morice-Picard, Fanny; Michaud, Vincent; Lasseaux, Eulalie; Rezvani, Hamid Reza; Plaisant, Claudio; Bessis, Didier; Leauté-Labrèze, Christine; Arveiler, Benoit; Taieb, Alain; Trimouille, Aurélien; Boralevi, Franck.

J Invest Dermatol; 2019 Nov 29.

Artigo em Inglês | MEDLINE | ID: mdl-31790666

10.

Comprehensive phylogenetic reconstructions of African swine fever virus: proposal for a new classification and molecular dating of the virus.

Michaud, Vincent; Randriamparany, Tantely; Albina, Emmanuel.

PLoS One; 8(7): e69662, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23936068

11.

Study of emotional and cognitive impairments in mononeuropathic rats: effect of duloxetine and gabapentin.

Grégoire, Stéphanie; Michaud, Vincent; Chapuy, Eric; Eschalier, Alain; Ardid, Denis.

Pain; 153(8): 1657-63, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22664319

12.

First detection of African Swine Fever Virus in Ornithodoros porcinus in Madagascar and new insights into tick distribution and taxonomy.

Ravaomanana, Julie; Michaud, Vincent; Jori, Ferran; Andriatsimahavandy, Abel; Roger, François; Albina, Emmanuel; Vial, Laurence.

Parasit Vectors; 3: 115, 2010 Nov 30.

Artigo em Inglês | MEDLINE | ID: mdl-21118485

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