Pesquisa | Biblioteca Virtual em Saúde

1.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

De Tomasi, Lara; David, Pierre; Humbert, Camille; Silbermann, Flora; Arrondel, Christelle; Tores, Frédéric; Fouquet, Stéphane; Desgrange, Audrey; Niel, Olivier; Bole-Feysot, Christine; Nitschké, Patrick; Roume, Joëlle; Cordier, Marie-Pierre; Pietrement, Christine; Isidor, Bertrand; Khau Van Kien, Philippe; Gonzales, Marie; Saint-Frison, Marie-Hélène; Martinovic, Jelena; Novo, Robert; Piard, Juliette; Cabrol, Christelle; Verma, Ishwar C; Puri, Ratna; Journel, Hubert; Aziza, Jacqueline; Gavard, Laurent; Said-Menthon, Marie-Hélène; Heidet, Laurence; Saunier, Sophie; Jeanpierre, Cécile.

Am J Hum Genet; 101(5): 803-814, 2017 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-29100091

2.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rß1 Deficiency.

Rosain, Jérémie; Oleaga-Quintas, Carmen; Deswarte, Caroline; Verdin, Hannah; Marot, Stéphane; Syridou, Garyfallia; Mansouri, Mahboubeh; Mahdaviani, S Alireza; Venegas-Montoya, Edna; Tsolia, Maria; Mesdaghi, Mehrnaz; Chernyshova, Liudmyla; Stepanovskiy, Yuriy; Parvaneh, Nima; Mansouri, Davood; Pedraza-Sánchez, Sigifredo; Bondarenko, Anastasia; Espinosa-Padilla, Sara E; Yamazaki-Nakashimada, Marco A; Nieto-Patlán, Alejandro; Kerner, Gaspard; Lambert, Nathalie; Jacques, Corinne; Corvilain, Emilie; Migaud, Mélanie; Grandin, Virginie; Herrera, María T; Jabot-Hanin, Fabienne; Boisson-Dupuis, Stéphanie; Picard, Capucine; Nitschke, Patrick; Puel, Anne; Tores, Frederic; Abel, Laurent; Blancas-Galicia, Lizbeth; De Baere, Elfride; Bole-Feysot, Christine; Casanova, Jean-Laurent; Bustamante, Jacinta.

J Clin Immunol; 2018 Jul 11.

Artigo em Inglês | MEDLINE | ID: mdl-29995221

3.

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Steffann, Julie; Pouliet, Aurore; Adjal, Houda; Bole, Christine; Fourrage, Cécile; Martinovic, Jelena; Rolland-Galmiche, Louise; Rotig, Agnes; Tores, Frédéric; Munnich, Arnold; Bonnefont, Jean-Paul.

J Med Genet; 54(5): 324-329, 2017 05.

Artigo em Inglês | MEDLINE | ID: mdl-28069933

4.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Heidet, Laurence; Morinière, Vincent; Henry, Charline; De Tomasi, Lara; Reilly, Madeline Louise; Humbert, Camille; Alibeu, Olivier; Fourrage, Cécile; Bole-Feysot, Christine; Nitschké, Patrick; Tores, Frédéric; Bras, Marc; Jeanpierre, Marc; Pietrement, Christine; Gaillard, Dominique; Gonzales, Marie; Novo, Robert; Schaefer, Elise; Roume, Joëlle; Martinovic, Jelena; Malan, Valérie; Salomon, Rémi; Saunier, Sophie; Antignac, Corinne; Jeanpierre, Cécile.

J Am Soc Nephrol; 28(10): 2901-2914, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28566479

5.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Humbert, Camille; Silbermann, Flora; Morar, Bharti; Parisot, Mélanie; Zarhrate, Mohammed; Masson, Cécile; Tores, Frédéric; Blanchet, Patricia; Perez, Marie-José; Petrov, Yuliya; Khau Van Kien, Philippe; Roume, Joelle; Leroy, Brigitte; Gribouval, Olivier; Kalaydjieva, Luba; Heidet, Laurence; Salomon, Rémi; Antignac, Corinne; Benmerah, Alexandre; Saunier, Sophie; Jeanpierre, Cécile.

Am J Hum Genet; 94(2): 288-94, 2014 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-24439109

6.

Antitumour activity of an inhibitor of miR-34a in liver cancer with ß-catenin-mutations.

Gougelet, Angélique; Sartor, Chiara; Bachelot, Laura; Godard, Cécile; Marchiol, Carmen; Renault, Gilles; Tores, Frédéric; Nitschke, Patrick; Cavard, Catherine; Terris, Benoit; Perret, Christine; Colnot, Sabine.

Gut; 65(6): 1024-34, 2016 06.

Artigo em Inglês | MEDLINE | ID: mdl-25792709

7.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon, Christopher T; Petit, Florence; Kroisel, Peter M; Jakobsen, Linda; Zechi-Ceide, Roseli Maria; Oufadem, Myriam; Bole-Feysot, Christine; Pruvost, Solenn; Masson, Cécile; Tores, Frédéric; Hieu, Thierry; Nitschké, Patrick; Lindholm, Pernille; Pellerin, Philippe; Guion-Almeida, Maria Leine; Kokitsu-Nakata, Nancy Mizue; Vendramini-Pittoli, Siulan; Munnich, Arnold; Lyonnet, Stanislas; Holder-Espinasse, Muriel; Amiel, Jeanne.

Am J Hum Genet; 93(6): 1118-25, 2013 Dec 05.

Artigo em Inglês | MEDLINE | ID: mdl-24268655

8.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.

Jeanpierre, Cécile; Macé, Guillaume; Parisot, Mélanie; Morinière, Vincent; Pawtowsky, Audrey; Benabou, Marion; Martinovic, Jelena; Amiel, Jeanne; Attié-Bitach, Tania; Delezoide, Anne-Lise; Loget, Philippe; Blanchet, Patricia; Gaillard, Dominique; Gonzales, Marie; Carpentier, Wassila; Nitschke, Patrick; Tores, Frédéric; Heidet, Laurence; Antignac, Corinne; Salomon, Rémi.

J Med Genet; 48(7): 497-504, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21490379

9.

Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.

Maussion, Gilles; Carayol, Jérôme; Lepagnol-Bestel, Aude-Marie; Tores, Frédéric; Loe-Mie, Yann; Milbreta, Ulla; Rousseau, Francis; Fontaine, Karine; Renaud, Julie; Moalic, Jean-Marie; Philippi, Anne; Chedotal, Alain; Gorwood, Philip; Ramoz, Nicolas; Hager, Jörg; Simonneau, Michel.

Hum Mol Genet; 17(16): 2541-51, 2008 Aug 15.

Artigo em Inglês | MEDLINE | ID: mdl-18492799

10.

Evaluating diagnostic accuracy of genetic profiles in affected offspring families.

Carayol, Jerome; Tores, Frédéric; König, Inke R; Hager, Jörg; Ziegler, Andreas.

Stat Med; 29(22): 2359-68, 2010 Sep 30.

Artigo em Inglês | MEDLINE | ID: mdl-20623818

11.

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.

Brooks, Peter; Marcaillou, Charles; Vanpeene, Maud; Saraiva, Jean-Paul; Stockholm, Daniel; Francke, Stephan; Favis, Reyna; Cohen, Nadine; Rousseau, Francis; Tores, Frédéric; Lindenbaum, Pierre; Hager, Jörg; Philippi, Anne.

BMC Genet; 10: 16, 2009 Mar 30.

Artigo em Inglês | MEDLINE | ID: mdl-19331686

12.

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

El-Daher, Marie-Therese; Cagnard, Nicolas; Gil, Marine; Da Cruz, Marie Chansel; Leveau, Claire; Sepulveda, Fernando; Zarhrate, Mohammed; Tores, Frédéric; Legoix, Patricia; Baulande, Sylvain; de Villartay, Jean Pierre; Almouzni, Geneviève; Quivy, Jean-Pierre; Fischer, Alain; de Saint Basile, Geneviève.

Cell Discov; 4: 61, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30455981

13.

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Stoupa, Athanasia; Adam, Frédéric; Kariyawasam, Dulanjalee; Strassel, Catherine; Gawade, Sanjay; Szinnai, Gabor; Kauskot, Alexandre; Lasne, Dominique; Janke, Carsten; Natarajan, Kathiresan; Schmitt, Alain; Bole-Feysot, Christine; Nitschke, Patrick; Léger, Juliane; Jabot-Hanin, Fabienne; Tores, Frédéric; Michel, Anita; Munnich, Arnold; Besmond, Claude; Scharfmann, Raphaël; Lanza, François; Borgel, Delphine; Polak, Michel; Carré, Aurore.

EMBO Mol Med; 2018 Nov 16.

Artigo em Inglês | MEDLINE | ID: mdl-30446499

14.

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

Philippi, Anne; Tores, Frédéric; Carayol, Jérome; Rousseau, Francis; Letexier, Mélanie; Roschmann, Elke; Lindenbaum, Pierre; Benajjou, Abdel; Fontaine, Karine; Vazart, Céline; Gesnouin, Philippe; Brooks, Peter; Hager, Jörg.

BMC Med Genet; 8: 74, 2007 Dec 06.

Artigo em Inglês | MEDLINE | ID: mdl-18053270

15.

SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation.

Moretti, Charlotte; Serrentino, Maria-Elisabetta; Ialy-Radio, Côme; Delessard, Marion; Soboleva, Tatiana A; Tores, Frederic; Leduc, Marjorie; Nitschké, Patrick; Drevet, Joel R; Tremethick, David J; Vaiman, Daniel; Kocer, Ayhan; Cocquet, Julie.

Cell Death Differ; 24(6): 1029-1044, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-28475176

16.

Expression and epigenomic landscape of the sex chromosomes in mouse post-meiotic male germ cells.

Moretti, Charlotte; Vaiman, Daniel; Tores, Frederic; Cocquet, Julie.

Epigenetics Chromatin; 9: 47, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-27795737

17.

Association of REL polymorphisms and outcome of patients with septic shock.

Toubiana, Julie; Courtine, Emilie; Tores, Frederic; Asfar, Pierre; Daubin, Cédric; Rousseau, Christophe; Ouaaz, Fatah; Marin, Nathalie; Cariou, Alain; Chiche, Jean-Daniel; Mira, Jean-Paul.

Ann Intensive Care; 6(1): 28, 2016 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-27059500

18.

Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects.

Carayol, Jérôme; Sacco, Roberto; Tores, Frédéric; Rousseau, Francis; Lewin, Patricia; Hager, Jorg; Persico, Antonio M.

Biol Psychiatry; 70(9): 880-7, 2011 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-21757185

19.

Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk.

Carayol, Jerome; Schellenberg, Gerard D; Tores, Frederic; Hager, Jörg; Ziegler, Andreas; Dawson, Geraldine.

Mol Autism; 1(1): 4, 2010 Feb 22.

Artigo em Inglês | MEDLINE | ID: mdl-20678243

20.

On confidence intervals for genotype relative risks and attributable risks from case parent trio designs for candidate-gene studies.

Franke, Daniel; Philippi, Anne; Tores, Frédéric; Hager, Jörg; Ziegler, Andreas; König, Inke R.

Hum Hered; 60(2): 81-8, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-16192736

Biblioteca Virtual em Saúde

Brasil

Sua seleção (0)

Formato de exportação:

Exportar: