Laboratoire de Génétique Médicale - LGM - UMRS1112

  • Flux RSS
(1 - 20 of 112)

Pages

Export to file
Bookmark
Étiquette
Albinism in a patient with mutations at both the OA1 and OCA3 loci
MORICE-PICARD, F., LASSEAUX, E., PLAISANT, C., CAILLEY, D., BOURON, J., ROORYCK, C., LACOMBE, D., PELLETIER, V., LIPSKER, D., PERDOMO-TRUJILLO, Y., DOLLFUS, Hélène et ARVEILER, B., 2016. Albinism in a patient with mutations at both the OA1 and OCA3 loci. Pigment Cell and Melanoma Research [en ligne]. 2016. Vol. 29, n° 1pp. 107-109. [Consultésans date]. DOI 10.1111/pcmr.12408. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/26247803
Alstrom Syndrome: Mutation Spectrum of ALMS1
MARSHALL, J. D., MULLER, Jean, COLLIN, G. B., MILAN, G., KINGSMORE, S. F., DINWIDDIE, D., FARROW, E. G., MILLER, N. A., FAVARETTO, F., MAFFEI, P., DOLLFUS, Helene, VETTOR, R. et NAGGERT, J. K., 2015. Alstrom Syndrome: Mutation Spectrum of ALMS1. Human Mutation [en ligne]. 2015. Vol. 36, n° 7pp. 660-668. [Consultésans date]. DOI 10.1002/humu.22796. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/258466081. .
Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes
PRASAD, M K, LAOUINA, S., EL ALLOUSSI, M., DOLLFUS, Helene et BLOCH-ZUPAN, Agnès, 2016. Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes. Journal of dental research [en ligne]. 24 août 2016. Vol. 95, n° 13pp. 1457-1463. [Consulté 24 août 2016]. DOI 10.1177/0022034516663200. Consulté de : http://journals.sagepub.com/doi/abs/10.1177/0022034516663200?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed1. journal article. 2. 2016 Dec. 3. 2016 08 24. 4. . 5. imported. 6. .
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
IMHOFF, O., MARION, Vincent, STOETZEL, Corinne, DURAND, M., HOLDER, M., SIGAUDY, S., SARDA, P., HAMEL, C. P., BRANDT, C., DOLLFUS, Helene et MOULIN, B., 2011. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clinical Journal of the American Society of Nephrology [en ligne]. 2011. Vol. 6, n° 1pp. 22-29. [Consultésans date]. DOI 10.2215/CJN.03320410. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/208766741. .
Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption
MARION, Vincent, SCHLICHT, D., MOCKEL, A., CAILLARD, S., IMHOFF, O., STOETZEL, Corinne, VAN DIJK, P., BRANDT, C., MOULIN, B. et DOLLFUS, Helene, 2011. Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. Kidney International [en ligne]. 2011. Vol. 79, n° 9pp. 1013-1025. [Consultésans date]. DOI 10.1038/ki.2010.538. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/212707631. .
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response
MARION, Vincent, MOCKEL, A., DE MELO, C., OBRINGER, Cathy, CLAUSSMANN, A., SIMON, A., MESSADDEQ, Nadia, DURAND, M., DUPUIS, L., LOEFFLER, J. P., KING, P., MUTTER-SCHMIDT, Catherine, PETROVSKY, N., STOETZEL, Corinne et DOLLFUS, Helene, 2012. BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Cell Metabolism [en ligne]. 2012. Vol. 16, n° 3pp. 363-377. [Consultésans date]. DOI 10.1016/j.cmet.2012.08.005. Consulté de : http://www.sciencedirect.com/science/article/pii/S15504131120032701. .
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
CURIE, A., NAZIR, T., BRUN, Agnès, PAULIGNAN, Y., REBOUL, A., DELANGE, K., CHEYLUS, A., BERTRAND, S., ROCHEFORT, F., BUSSY, G., MARIGNIER, S., LACOMBE, D., CHIRON, C., COSSEE, M., LEHEUP, B., PHILIPPE, C., LAUGEL, Vincent, DE SAINT MARTIN, A., SACCO, S., POIRIER, K., BIENVENU, T., SOUVILLE, I., GILBERT-DUSSARDIER, B., BIETH, E., KAUFFMANN, D., BRIOT, P., DE FREMINVILLE, B., PRIEUR, F., TILL, M., ROORYCK-THAMBO, C., MORTEMOUSQUE, I., BOBILLIER-CHAUMONT, I., TOUTAIN, A., TOURAINE, R., SANLAVILLE, D., CHELLY, J., FREEMAN, S., KONG, J., HADJIKHANI, N., GOLLUB, R. L., ROY, A. et DES PORTES, V., 2014. The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet Journal of Rare Diseases [en ligne]. 14 février 2014. Vol. 9. [Consultésans date]. DOI 10.1186/1750-1172-9-25. Consulté de : https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-9-251. .
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
KALAY, E., YIGIT, G., ASLAN, Y., BROWN, K. E., POHL, E., BICKNELL, L. S., KAYSERILI, H., LI, Y., TUYSUZ, B., NURNBERG, G., KIESS, W., KOEGL, M., BAESSMANN, I., BURUK, K., TORAMAN, B., KAYIPMAZ, S., KUL, S., IKBAL, M., TURNER, D. J., TAYLOR, M. S., AERTS, J., SCOTT, C., MILSTEIN, K., DOLLFUS, Helene, WIECZOREK, D., BRUNNER, H. G., HURLES, M., JACKSON, A. P., RAUCH, A., NURNBERG, P., KARAGUZEL, A. et WOLLNIK, B., 2011. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics [en ligne]. 2011. Vol. 43, n° 1pp. 23-26. [Consultésans date]. DOI 10.1038/ng.725. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/21131973
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
CROW, Y. J., CHASE, D. S., LOWENSTEIN SCHMIDT, J., SZYNKIEWICZ, M., FORTE, G. M., GORNALL, H. L., OOJAGEER, A., ANDERSON, B., PIZZINO, A., HELMAN, G., ABDEL-HAMID, M. S., ABDEL-SALAM, G. M., ACKROYD, S., AEBY, A., AGOSTA, G., ALBIN, C., ALLON-SHALEV, S., ARELLANO, M., ARIAUDO, G., ASWANI, V., BABUL-HIRJI, R., BAILDAM, E. M., BAHI-BUISSON, N., BAILEY, K. M., BARNERIAS, C., BARTH, M., BATTINI, R., BERESFORD, M. W., BERNARD, G., BIANCHI, M., BILLETTE DE VILLEMEUR, T., BLAIR, E. M., BLOOM, M., BURLINA, A. B., CARPANELLI, M. L., CARVALHO, D. R., CASTRO-GAGO, M., CAVALLINI, A., CEREDA, C., CHANDLER, K. E., CHITAYAT, D. A., COLLINS, A. E., SIERRA CORCOLES, C., CORDEIRO, N. J., CRICHIUTTI, G., DABYDEEN, L., DALE, R. C., D'ARRIGO, S., DE GOEDE, C. G., DE LAET, C., DE WAELE, L. M., DENZLER, I., DESGUERRE, I., DEVRIENDT, K., DI ROCCO, M., FAHEY, M. C., FAZZI, E., FERRIE, C. D., FIGUEIREDO, A., GENER, B., GOIZET, C., GOWRINATHAN, N. R., GOWRISHANKAR, K., HANRAHAN, D., ISIDOR, B., KARA, B., KHAN, N., KING, M. D., KIRK, E. P., KUMAR, R., LAGAE, L., LANDRIEU, P., LAUFFER, H., LAUGEL, Vincent, LA PIANA, R., LIM, M. J., LIN, J. P., LINNANKIVI, T., MACKAY, M. T., MAROM, D. R., MARQUES LOURENCO, C., MCKEE, S. A., MORONI, I., MORTON, J. E., MOUTARD, M. L., MURRAY, K., NABBOUT, R., NAMPOOTHIRI, S., NUNEZ-ENAMORADO, N., OADES, P. J., OLIVIERI, I., OSTERGAARD, J. R., PEREZ-DUENAS, B., PRENDIVILLE, J. S., RAMESH, V., RASMUSSEN, M., REGAL, L., RICCI, F., RIO, M., RODRIGUEZ, D., ROUBERTIE, A., SALVATICI, E., SEGERS, K. A., SINHA, G. P., SOLER, D., SPIEGEL, R., STODBERG, T. I., STRAUSSBERG, R., SWOBODA, K. J., SURI, M., TACKE, U., TAN, T. Y., TE WATER NAUDE, J., WEE TEIK, K., THOMAS, M. M., TILL, M., TONDUTI, D., VALENTE, E. M., VAN COSTER, R. N., VAN DER KNAAP, M. S., VASSALLO, G., VIJZELAAR, R., VOGT, J., WALLACE, G. B., WASSMER, E., WEBB, H. J., WHITEHOUSE, W. P., WHITNEY, R. N., ZAKI, M. S., ZUBERI, S. M., LIVINGSTON, J. H., ROZENBERG, F., LEBON, P., VANDERVER, A., ORCESI, S. et RICE, G. I., 2015. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American Journal of Medical Genetics Part A [en ligne]. 2015. Vol. 167, n° 2pp. 296-312. [Consultésans date]. DOI 10.1002/ajmg.a.36887. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/25604658
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
M'HAMDI, O., REDIN, C., STOETZEL, Corinne, OUERTANI, I., CHAABOUNI, M., MAAZOUL, F., M'RAD, R., MANDEL, Jean-Louis, DOLLFUS, Helene, MULLER, Jean et CHAABOUNI, H., 2014. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. Clinical Genetics [en ligne]. 2014. Vol. 85, n° 2pp. 172-177. [Consultésans date]. DOI 10.1111/cge.12129. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/234320271. .
Cockayne syndrome: the expanding clinical and mutational spectrum
LAUGEL, Vincent, 2013. Cockayne syndrome: the expanding clinical and mutational spectrum. Mechanisms of ageing and development [en ligne]. 2013. Vol. 134, n° 5pp. 161-170. [Consultésans date]. DOI 10.1016/j.mad.2013.02.006. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/23428416
Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
COGNARD, N., SCERBO, M. J., OBRINGER, Cathy, YU, Xiangxiang, COSTA, F., HASER, E., LE, D., STOETZEL, Corinne, ROUX, M. J., MOULIN, B., DOLLFUS, Helene et MARION, Vincent, 2015. Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice. Cilia [en ligne]. 13 août 2015. Vol. 4. [Consultésans date]. DOI 10.1186/s13630-015-0019-8. Consulté de : https://ciliajournal.biomedcentral.com/articles/10.1186/s13630-015-0019-81. .
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. .
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
BLOCH-ZUPAN, Agnès, HUCKERT, Mathilde, STOETZEL, Corinne, MEYER, Julia, GEOFFROY, Véronique, RAZAFINDRAKOTO, Rabisoa W, RALISON, Saholy N, RANDRIANAIVO, Jean-Claude, RALISON, Georgette, ANDRIAMASINORO, Rija O, RAMANAMPAMAHARANA, Rija H, RANDRIANAZARY, Solofomanantsoa E, RALIMANANA, Louise H, RICHARD, Béatrice, GORRY, Philippe, MANIÈRE, Marie-Cécile, RASOAMANANJARA, Jeanne A, RAKOTO ALSON, Simone et DOLLFUS, Helene, 2016. Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar. Frontiers in physiology [en ligne]. juillet 2016. Vol. 7, pp. 304. [Consulté 26 juillet 2016]. DOI 10.3389/fphys.2016.00304. Consulté de : http://journal.frontiersin.org/article/10.3389/fphys.2016.00304/full1. published erratum. 2. 2016. 3. 2016 07 26. 4. . 5. imported. 6. .
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
BUENA-ATIENZA, Elena, RÜTHER, Klaus, BAUMANN, Britta, BERGHOLZ, Richard, BIRCH, David, DE BAERE, Elfride, DOLLFUS, Helene, GREALLY, Marie T, GUSTAVSSON, Peter, HAMEL, Christian P, HECKENLIVELY, John R, LEROY, Bart P, PLOMP, Astrid S, POTT, Jan Willem R, ROSE, Katherine, ROSENBERG, Thomas, STARK, Zornitza, VERHEIJ, Joke B G M, WELEBER, Richard, ZOBOR, Ditta, WEISSCHUH, Nicole, KOHL, Susanne et WISSINGER, Bernd, 2016. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Scientific reports [en ligne]. 24 juin 2016. Vol. 6, pp. 28253. [Consulté 24 juin 2016]. DOI 10.1038/srep28253. Consulté de : https://www.nature.com/articles/srep282531. journal article. 2. 2016 Jun 24. 3. 2016 06 24. 4. . 5. imported. 6. .
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
GRAU, T., ARTEMYEV, N. O., ROSENBERG, T., DOLLFUS, Helene, HAUGEN, O. H., CUMHUR SENER, E., JURKLIES, B., ANDREASSON, S., KERNSTOCK, C., LARSEN, M., ZRENNER, E., WISSINGER, B. et KOHL, S., 2011. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Human Molecular Genetics [en ligne]. 2011. Vol. 20, n° 4pp. 719-730. [Consultésans date]. DOI 10.1093/hmg/ddq517. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/211270101. .
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
BLANCHON, S., LEGENDRE, M., COPIN, B., DUQUESNOY, P., MONTANTIN, G., KOTT, E., DASTOT, F., JEANSON, L., CACHANADO, M., ROUSSEAU, A., PAPON, J. F., BEYDON, N., BROUARD, J., CRESTANI, B., DESCHILDRE, A., DESIR, J., DOLLFUS, Hélène, LEHEUP, B., TAMALET, A., THUMERELLE, C., VOJTEK, A. M., ESCALIER, D., COSTE, A., DE BLIC, J., CLEMENT, A., ESCUDIER, E. et AMSELEM, S., 2012. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Journal of Medical Genetics [en ligne]. 2012. Vol. 49, n° 6pp. 410-416. [Consultésans date]. DOI 10.1136/jmedgenet-2012-100867. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/22693285
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.
TARDIEU, C., JUNG, S., NIEDERREITHER, K., PRASAD, M., HADJ-RABIA, S., PHILIP, N., MALLET, A., CONSOLINO, E., SFEIR, E., NOUEIRI, B., CHASSAING, N., DOLLFUS, Helene, MANIÈRE, M-C, BLOCH-ZUPAN, Agnès et CLAUSS, F., 2017. Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study. Clinical genetics [en ligne]. 20 janvier 2017. [Consulté 20 janvier 2017]. DOI 10.1111/cge.12972. Consulté de : http://onlinelibrary.wiley.com/doi/10.1111/cge.12972/abstract1. journal article. 2. 2017 Jan 20. 3. 2017 01 20. 4. . 5. imported. 6. .
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome
FROUIN, E., LAUGEL, Vincent, DURAND, M., DOLLFUS, Helene et LIPSKER, D., 2013. Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. JAMA Dermatology [en ligne]. décembre 2013. Vol. 149, n° 12pp. 1414-1418. [Consultésans date]. DOI 10.1001/jamadermatol.2013.6683. Consulté de : http://jamanetwork.com/journals/jamadermatology/fullarticle/17571661. .
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
BLOCH-ZUPAN, Agnès, HUCKERT, Mathilde, STOETZEL, Corinne, MEYER, Julia, GEOFFROY, Véronique, RAZAFINDRAKOTO, Rabisoa W, RALISON, Saholy N, RANDRIANAIVO, Jean-Claude, RALISON, Georgette, ANDRIAMASINORO, Rija O, RAMANAMPAMAHARANA, Rija H, RANDRIANAZARY, Solofomanantsoa E, RICHARD, Béatrice, GORRY, Philippe, MANIÈRE, Marie-Cécile, RAKOTO ALSON, Simone et DOLLFUS, Helene, 2016. Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar. Frontiers in physiology [en ligne]. 2 mars 2016. Vol. 7, pp. 70. [Consulté 2 mars 2016]. DOI 10.3389/fphys.2016.00070. Consulté de : http://journal.frontiersin.org/article/10.3389/fphys.2016.00070/full1. journal article. 2. 2016. 3. 2016 03 02. 4. . 5. imported. 6. .

Pages

Islandora displays