Laboratoire de Génétique Médicale - LGM - UMRS1112

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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia
MARELLI, C., VAN DE LEEMPUT, J., JOHNSON, J. O., TISON, F., THAUVIN-ROBINET, C., PICARD, F., TRANCHANT, C., HERNANDEZ, D. G., HUTTIN, B., BOULLIAT, J., SANGLA, I., MARESCAUX, C., BRIQUE, S., DOLLFUS, Helene, AREPALLI, S., BENATRU, I., OLLAGNON, E., FORLANI, S., HARDY, J., STEVANIN, G., DURR, A., SINGLETON, A. et BRICE, A., 2011. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Archives of neurology [en ligne]. mai 2011. Vol. 68, n° 5pp. 637-643. [Consultésans date]. DOI 10.1001/archneurol.2011.81. Consulté de : http://jamanetwork.com/journals/jamaneurology/fullarticle/8030611. .
Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?
GAERTNER, S., ALEMBIK, Y., CORDEANU, E. M., DOLLFUS, Helene, LEJAY, Anne-Catherine, CHAKFE, Nabil et STEPHAN, D., 2014. Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome? International journal of cardiology [en ligne]. 4 janvier 2014. Vol. 172, n° 1pp. e94-e95. [Consultésans date]. DOI 10.1016/j.ijcard.2013.12.131. Consulté de : http://www.sciencedirect.com/science/article/pii/S0167527313023437?via%3Dihub1. .
Single-cell profiling of epigenetic modifiers identifies PRDM14 as an inducer of cell fate in the mammalian embryo
BURTON, Jonathan Adam, MULLER, Jean, TU, S., PADILLA-LONGORIA, P., GUCCIONE, E. et TORRES PADILLA, Maria Elena Elena, 2013. Single-cell profiling of epigenetic modifiers identifies PRDM14 as an inducer of cell fate in the mammalian embryo. Cell Reports [en ligne]. 31 octobre 2013. Vol. 5, n° 3pp. 687-701. [Consultésans date]. DOI 10.1016/j.celrep.2013.09.044. Consulté de : http://www.sciencedirect.com/science/article/pii/S22111247130056761. .
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
KLEBE, S., DEPIENNE, C., GERBER, S., CHALLE, G., ANHEIM, M., CHARLES, P., FEDIRKO, E., LEJEUNE, E., COTTINEAU, J., BRUSCO, A., DOLLFUS, Helene, CHINNERY, P. F., MANCINI, C., FERRER, X., SOLE, G., DESTEE, A., MAYER, J. M., FONTAINE, B., DE SEZE, Jerome, CLANET, M., OLLAGNON, E., BUSSON, P., CAZENEUVE, C., STEVANIN, G., KAPLAN, J., ROZET, J. M., BRICE, A. et DURR, A., 2012. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain [en ligne]. 2012. Vol. 135, pp. 2980-2993. [Consultésans date]. DOI 10.1093/brain/aws240. Consulté de : https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/aws2401. .
Syndrome de Bardet-Biedl: cils et obésité - de la génétique aux approches intégratives. [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches]
CHENNEN, Kirsley, SCERBO, M. J., DOLLFUS, Helene, POCH, O. et MARION, Vincent, 2014. Syndrome de Bardet-Biedl: cils et obésité - de la génétique aux approches intégratives. [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches]. médecine/sciences [en ligne]. 10 novembre 2014. Vol. 30, n° 11pp. 1034-1039. [Consultésans date]. DOI 10.1051/medsci/20143011018. Consulté de : https://www.medecinesciences.org/fr/articles/medsci/abs/2014/10/medsci20143011p1034/medsci20143011p1034.html1. .
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes
REDIN, C., LE GRAS, Stephanie, MHAMDI, O., GEOFFROY, Véronique, STOETZEL, Corinne, VINCENT, M. C., CHIURAZZI, P., LACOMBE, D., OUERTANI, I., PETIT, F., TILL, M., VERLOES, A., JOST, Bernard, CHAABOUNI, H. B., DOLLFUS, Helene, MANDEL, Jean-Louis et MULLER, Jean, 2012. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes. Journal of Medical Genetics [en ligne]. 2012. Vol. 49, n° 8pp. 502-512. [Consultésans date]. DOI 10.1136/jmedgenet-2012-100875. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/227737371. .
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
PRASAD, Megana K, GEOFFROY, Véronique, VICAIRE, Serge, JOST, Bernard, DUMAS, Michael, LE GRAS, Stéphanie, SWITALA, Marzena, GASSE, Barbara, LAUGEL-HAUSHALTER, Virginie, PASCHAKI, Marie, LEHEUP, Bruno, DROZ, Dominique, DALSTEIN, Amelie, LOING, Adeline, GROLLEMUND, Bruno, MULLER-BOLLA, Michèle, LOPEZ-CAZAUX, Séréna, MINOUX, Maryline, JUNG, Sophie, OBRY, Frédéric, VOGT, Vincent, DAVIDEAU, Jean-Luc, DAVIT-BEAL, Tiphaine, KAISER, Anne-Sophie, MOOG, Ute, RICHARD, Béatrice, MORRIER, Jean-Jacques, DUPREZ, Jean-Pierre, ODENT, Sylvie, BAILLEUL-FORESTIER, Isabelle, ROUSSET, Monique Marie, MERAMETDIJAN, Laure, TOUTAIN, Annick, JOSEPH, Clara, GIULIANO, Fabienne, DAHLET, Jean-Christophe, COURVAL, Aymeric, EL ALLOUSSI, Mustapha, LAOUINA, Samir, SOSKIN, Sylvie, GUFFON, Nathalie, DIEUX, Anne, DORAY, Berenice, FEIERABEND, Stephanie, GINGLINGER, Emmanuelle, FOURNIER, Benjamin, DE LA DURE MOLLA, Muriel, ALEMBIK, Yves, TARDIEU, Corinne, CLAUSS, François, BERDAL, Ariane, STOETZEL, Corinne, MANIÈRE, Marie Cécile, DOLLFUS, Helene et BLOCH-ZUPAN, Agnès, 2015. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. Journal of medical genetics. 26 octobre 2015. Vol. 53, n° 2pp. 98-110. DOI 10.1136/jmedgenet-2015-103302. 1. journal article. 2. research support, non-u.s. gov't. 3. 2016 Feb. 4. 2015 10 26. 5. . 6. imported. 7. .
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
CHASSAING, Nicolas, DAVIS, Erica E, MCKNIGHT, Kelly L, NIEDERRITER, Adrienne R, CAUSSE, Alexandre, DAVID, Véronique, DESMAISON, Annaïck, LAMARRE, Sophie, VINCENT-DELORME, Catherine, PASQUIER, Laurent, COUBES, Christine, LACOMBE, Didier, ROSSI, Massimiliano, DUFIER, Jean-Louis, DOLLFUS, Helene, KAPLAN, Josseline, KATSANIS, Nicholas, ETCHEVERS, Heather C, FAGUER, Stanislas et CALVAS, Patrick, 2016. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome research [en ligne]. 18 février 2016. Vol. 26, n° 4pp. 474-85. [Consulté 18 février 2016]. DOI 10.1101/gr.196048.115. Consulté de : http://genome.cshlp.org/content/26/4/474.long1. journal article. 2. research support, non-u.s. gov't. 3. 2016 Apr. 4. 2016 02 18. 5. . 6. imported. 7. .
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
VINCENT, M., GENEVIEVE, D., OSTERTAG, A., MARLIN, S., LACOMBE, D., MARTIN-COIGNARD, D., COUBES, C., DAVID, A., LYONNET, S., VILAIN, C., DIEUX-COESLIER, A., MANOUVRIER, S., ISIDOR, B., JACQUEMONT, M. L., JULIA, S., LAYET, V., NAUDION, S., ODENT, S., PASQUIER, L., PELRAS, S., PHILIP, N., PIERQUIN, G., PRIEUR, F., ABOUSSAIR, N., ATTIE-BITACH, T., BAUJAT, G., BLANCHET, P., BLANCHET, C., DOLLFUS, Helene, DORAY, Berenice, SCHAEFER, Elise, EDERY, P., GIULIANO, F., GOLDENBERG, A., GOIZET, C., GUICHET, A., HERLIN, C., LAMBERT, L., LEHEUP, B., MARTINOVIC, J., MERCIER, S., MIGNOT, C., MOUTARD, M. L., PEREZ, M. J., PINSON, L., PUECHBERTY, J., WILLEMS, M., RANDRIANAIVO, H., SZASKON, K., TOUTAIN, A., VERLOES, A., VIGNERON, J., SANCHEZ, E., SARDA, P., LAPLANCHE, J. L. et COLLET, C., 2015. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine [en ligne]. 19 mars 2015. Vol. 18, n° 1pp. 49-56. [Consultésans date]. DOI 10.1038/gim.2015.29. Consulté de : https://www.nature.com/gim/journal/v18/n1/full/gim201529a.html1. .
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
DAVIS, E. E., ZHANG, Q., LIU, Q., DIPLAS, B. H., DAVEY, L. M., HARTLEY, J., STOETZEL, Corinne, SZYMANSKA, K., RAMASWAMI, G., LOGAN, C. V., MUZNY, D. M., YOUNG, A. C., WHEELER, D. A., CRUZ, P., MORGAN, M., LEWIS, L. R., CHERUKURI, P., MASKERI, B., HANSEN, N. F., MULLIKIN, J. C., BLAKESLEY, R. W., BOUFFARD, G. G., PROGRAM, Nisc Comparative Sequencing, GYAPAY, G., RIEGER, S., TONSHOFF, B., KERN, I., SOLIMAN, N. A., NEUHAUS, T. J., SWOBODA, K. J., KAYSERILI, H., GALLAGHER, T. E., LEWIS, R. A., BERGMANN, C., OTTO, E. A., SAUNIER, S., SCAMBLER, P. J., BEALES, P. L., GLEESON, J. G., MAHER, E. R., ATTIE-BITACH, T., DOLLFUS, Helene, JOHNSON, C. A., GREEN, E. D., GIBBS, R. A., HILDEBRANDT, F., PIERCE, E. A. et KATSANIS, N., 2011. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics [en ligne]. 2011. Vol. 43, n° 3pp. 189-196. [Consultésans date]. DOI 10.1038/ng.756. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/21258341
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
CALMELS, N., GREFF, G., OBRINGER, Cathy, KEMPF, N., GASNIER, C., TARABEUX, J., MIGUET, M., BAUJAT, G., BESSIS, D., BRETONES, P., CAVAU, A., DIGEON, B., DOCO-FENZY, M., DORAY, Berenice, FEILLET, F., GARDEAZABAL, J., GENER, B., JULIA, S., LLANO-RIVAS, I., MAZUR, A., MICHOT, C., RENALDO-ROBIN, F., ROSSI, M., SABOURAUD, P., KEREN, B., DEPIENNE, C., MULLER, Jean, MANDEL, J. L. et LAUGEL, Vincent, 2016. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet Journal of Rare Diseases [en ligne]. 22 mars 2016. Vol. 11. [Consultésans date]. DOI 10.1186/s13023-016-0408-0. Consulté de : https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0408-01. .
Une nouvelle forme d'amaurose congénitale de Leber - Défaillance de la neuroprotection des photorecepteurs et des cellules ganglionnaires de la rétine. [Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]
KAPLAN, J., PERRAULT, I., HANEIN, S., DOLLFUS, Helene et ROZET, J. M., 2013. Une nouvelle forme d'amaurose congénitale de Leber - Défaillance de la neuroprotection des photorecepteurs et des cellules ganglionnaires de la rétine. [Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. médecine/sciences [en ligne]. 25 janvier 2013. Vol. 29, n° 1pp. 26-27. [Consultésans date]. DOI 10.1051/medsci/2013291008. Consulté de : https://www.medecinesciences.org/fr/articles/medsci/abs/2013/01/medsci2013291p26/medsci2013291p26.html1. .
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
BRAUN, J. J., NOBLET, V., KREMER, S., MOLIERE, S., DOLLFUS, Helene, MARION, Vincent, GOETZ, N., MULLER, Jean et RIEHM, S., 2016. Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome. Clinical Genetics [en ligne]. 2016. Vol. 90, n° 1pp. 79-83. [Consultésans date]. DOI 10.1111/cge.12697. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/265861521. sous presse.
VaRank: a simple and powerful tool for ranking genetic variants
GEOFFROY, Véronique, PIZOT, C., REDIN, C., PITON, A., VASLI, N., STOETZEL, Corinne, BLAVIER, A., LAPORTE, J. et MULLER, Jean, 2015. VaRank: a simple and powerful tool for ranking genetic variants. PeerJ [en ligne]. 3 mars 2015. Vol. 3. [Consultésans date]. DOI 10.7717/peerj.796. Consulté de : https://peerj.com/articles/796/1. .
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
BOURGEOIS, Patrice, BOLCATO-BELLEMIN, Anne-Laure, DANSE, Jean-Marc, BLOCH-ZUPAN, Agnès, YOSHIBA, Kunihiko, STOETZEL, Corinne et PERRIN-SCHMITT, Fabienne, 1998. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Human molecular genetics [en ligne]. juin 1998. Vol. 7, n° 6pp. 945-57. [Consultésans date]. DOI https://doi.org/10.1093/hmg/7.6.945. Consulté de : https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/7.6.9451. journal article. 2. research support, non-u.s. gov't. 3. 1998 Jun. 4. . 5. imported. 6. .
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
ZEITZ, C., JACOBSON, S. G., HAMEL, C. P., BUJAKOWSKA, K., NEUILLE, M., ORHAN, E., ZANLONGHI, X., LANCELOT, M. E., MICHIELS, C., SCHWARTZ, S. B., BOCQUET, B., CONGENITAL STATIONARY NIGHT BLINDNESS, Consortium, ANTONIO, A., AUDIER, C., LETEXIER, M., SARAIVA, J. P., LUU, T. D., SENNLAUB, F., NGUYEN, H., POCH, Olivier, DOLLFUS, Helene, LECOMPTE, Odile, KOHL, S., SAHEL, J. A., BHATTACHARYA, S. S. et AUDO, I., 2013. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics [en ligne]. 2013. Vol. 92, n° 1pp. 67-75. [Consultésans date]. DOI 10.1016/j.ajhg.2012.10.023. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/232462931. .
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
AUDO, I., BUJAKOWSKA, K., ORHAN, E., POLOSCHEK, C. M., DEFOORT-DHELLEMMES, S., DRUMARE, I., KOHL, S., LUU, T. D., LECOMPTE, O., ZRENNER, E., LANCELOT, M. E., ANTONIO, A., GERMAIN, A., MICHIELS, C., AUDIER, C., LETEXIER, M., SARAIVA, J. P., LEROY, B. P., MUNIER, F. L., MOHAND-SAID, S., LORENZ, B., FRIEDBURG, C., PREISING, M., KELLNER, U., RENNER, A. B., MOSKOVA-DOUMANOVA, V., BERGER, W., WISSINGER, B., HAMEL, C. P., SCHORDERET, D. F., DE BAERE, E., SHARON, D., BANIN, E., JACOBSON, S. G., BONNEAU, D., ZANLONGHI, X., LE MEUR, G., CASTEELS, I., KOENEKOOP, R., LONG, V. W., MEIRE, F., PRESCOTT, K., DE RAVEL, T., SIMMONS, I., NGUYEN, H., DOLLFUS, Helene, POCH, Olivier, LEVEILLARD, T., NGUYEN-BA-CHARVET, K., SAHEL, J. A., BHATTACHARYA, S. S. et ZEITZ, C., 2012. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics [en ligne]. 2012. Vol. 90, n° 2pp. 321-330. [Consultésans date]. DOI 10.1016/j.ajhg.2011.12.007. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/22325361

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Islandora displays