Laboratoire de Génétique Médicale - LGM - UMRS1112

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
BONNET, C., GRATI, M., MARLIN, S., LEVILLIERS, J., HARDELIN, J. P., PARODI, M., NIASME-GRARE, M., ZELENIKA, D., DELEPINE, M., FELDMANN, D., JONARD, L., EL-AMRAOUI, A., WEIL, D., DELOBEL, B., VINCENT, C., DOLLFUS, Helene, ELIOT, M. M., DAVID, A., CALAIS, C., VIGNERON, J., MONTAUT-VERIENT, B., BONNEAU, D., DUBIN, J., THAUVIN, C., DUVILLARD, A., FRANCANNET, C., MOM, T., LACOMBE, D., DURIEZ, F., DROUIN-GARRAUD, V., THUILLIER-OBSTOY, M. F., SIGAUDY, S., FRANCES, A. M., COLLIGNON, P., CHALLE, G., COUDERC, R., LATHROP, M., SAHEL, J. A., WEISSENBACH, J., PETIT, C. et DENOYELLE, F., 2011. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet Journal of Rare Diseases [en ligne]. 11 mai 2011. Vol. 6. [Consultésans date]. DOI 10.1186/1750-1172-6-21. Consulté de : https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-211. .
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
AUDO, I., BUJAKOWSKA, K., ORHAN, E., EL SHAMIEH, S., SENNLAUB, F., GUILLONNEAU, X., ANTONIO, A., MICHIELS, C., LANCELOT, M. E., LETEXIER, M., SARAIVA, J. P., NGUYEN, H., LUU, T. D., LEVEILLARD, T., POCH, Olivier, DOLLFUS, Helene, PAQUES, M., GOUREAU, O., MOHAND-SAID, S., BHATTACHARYA, S. S., SAHEL, J. A. et ZEITZ, C., 2014. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Human Molecular Genetics [en ligne]. 2014. Vol. 23, n° 2pp. 491-501. [Consultésans date]. DOI 10.1093/hmg/ddt439. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/240266771. .
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features
MANES, G., GUILLAUMIE, T., VOS, W. L., DEVOS, A., AUDO, I., ZEITZ, C., MARQUETTE, V., ZANLONGHI, X., DEFOORT-DHELLEMMES, S., PUECH, B., SAID, S. M., SAHEL, J. A., ODENT, S., DOLLFUS, Helene, KAPLAN, J., DUFIER, J. L., LE MEUR, G., WEBER, M., FAIVRE, L., COHEN, F. B., BEROUD, C., PICOT, M. C., VERDIER, C., SENECHAL, A., BAUDOIN, C., BOCQUET, B., FINDLAY, J. B., MEUNIER, I., DHAENENS, C. M. et HAMEL, C. P., 2015. High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. American journal of ophthalmology [en ligne]. 2015. Vol. 159, n° 2pp. 302-314. [Consultésans date]. DOI 10.1016/j.ajo.2014.10.033. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/254471191. .
Mutations in IMPG1 cause vitelliform macular dystrophies
MANES, G., MEUNIER, I., AVILA-FERNANDEZ, A., BANFI, S., LE MEUR, G., ZANLONGHI, X., CORTON, M., SIMONELLI, F., BRABET, P., LABESSE, G., AUDO, I., MOHAND-SAID, S., ZEITZ, C., SAHEL, J. A., WEBER, M., DOLLFUS, Helene, DHAENENS, C. M., ALLORGE, D., DE BAERE, E., KOENEKOOP, R. K., KOHL, S., CREMERS, F. P., HOLLYFIELD, J. G., SENECHAL, A., HEBRARD, M., BOCQUET, B., AYUSO GARCIA, C. et HAMEL, C. P., 2013. Mutations in IMPG1 cause vitelliform macular dystrophies. American Journal of Human Genetics [en ligne]. 2013. Vol. 93, n° 3pp. 571-578. [Consultésans date]. DOI 10.1016/j.ajhg.2013.07.018. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/23993198
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
BOCQUET, B., LACROUX, A., SURGET, M. O., BAUDOIN, C., MARQUETTE, V., MANES, G., HEBRARD, M., SENECHAL, A., DELETTRE, C., ROUX, A. F., CLAUSTRES, M., DHAENENS, C. M., ROZET, J. M., PERRAULT, I., BONNEFONT, J. P., KAPLAN, J., DOLLFUS, Helene, AMATI-BONNEAU, P., BONNEAU, D., REYNIER, P., AUDO, I., ZEITZ, C., SAHEL, J. A., PAQUIS-FLUCKLINGER, V., CALVAS, P., ARVEILER, B., KOHL, S., WISSINGER, B., BLANCHET, C., MEUNIER, I. et HAMEL, C. P., 2013. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiology [en ligne]. 2013. Vol. 20, n° 1pp. 13-25. [Consultésans date]. DOI 10.3109/09286586.2012.737890. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/23350551
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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