Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis
Lefebvre, M., Duffourd, Y., Jouan, T., Poe, C., Jean‐Marçais, N., Verloes, A., St‐Onge, J., Riviere, J.‐B., Petit, F., Pierquin, G., Demeer, B., Callier, P., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus
Kuentz, P., Fraitag, S., Gonzales, M., Dhombres, F., St‐Onge, J., Duffourd, Y., Joyé, N., Jouannic, J.‐M., Picard, A., Marle, N., Thevenon, J., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
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Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping
Amos, J.S., Huang, L., Thevenon, J., Kariminedjad, A., Beaulieu, C.L., Masurel‐Paulet, A., Najmabadi, H., Fattahi, Z., Beheshtian, M., Tonekaboni, S.H., Tang, S., Helbig, K.L., Alcaraz, W., Rivière, J.‐B., Faivre, L., Innes, A.M., Lebel, R.R., Boycott, K.M.
Published in Clinical genetics (01.01.2017)
Published in Clinical genetics (01.01.2017)
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Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
Bascunana, C., El Helou, J., Rauch, F.T., Bardai, G., Glorieux, F.H., Riviere, J-B., Byers, P., Kaplan, P.B., Rosenblatt, D.S.
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
Thevenon, J., Duffourd, Y., Masurel‐Paulet, A., Lefebvre, M., Feillet, F., El Chehadeh‐Djebbar, S., St‐Onge, J., Steinmetz, A., Huet, F., Chouchane, M., Darmency‐Stamboul, V., Callier, P., Thauvin‐Robinet, C., Faivre, L., Rivière, J.B.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Piton, A, Gauthier, J, Hamdan, F F, Lafrenière, R G, Yang, Y, Henrion, E, Laurent, S, Noreau, A, Thibodeau, P, Karemera, L, Spiegelman, D, Kuku, F, Duguay, J, Destroismaisons, L, Jolivet, P, Côté, M, Lachapelle, K, Diallo, O, Raymond, A, Marineau, C, Champagne, N, Xiong, L, Gaspar, C, Rivière, J-B, Tarabeux, J, Cossette, P, Krebs, M-O, Rapoport, J L, Addington, A, DeLisi, L E, Mottron, L, Joober, R, Fombonne, E, Drapeau, P, Rouleau, G A
Published in Molecular psychiatry (01.08.2011)
Published in Molecular psychiatry (01.08.2011)
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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
Thauvin-Robinet, C., Duplomb-Jego, L., Limoge, F., Picot, D., Masurel, A., Terriat, B., Champilou, C., Minot, D., St-Onge, J., Kuentz, P., Duffourd, Y., Thevenon, J., Rivière, J.-B., Faivre, L.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes
Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Bruel, A.‐L., Masurel‐Paulet, A., Rivière, J.‐B., Duffourd, Y., Lehalle, D., Bensignor, C., Huet, F., Borgnon, J., Roucher, F., Kuentz, P., Deleuze, J.‐F., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.
Published in Clinical genetics (01.02.2017)
Published in Clinical genetics (01.02.2017)
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A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13
Levchenko, A, Provost, S, Montplaisir, J Y, Xiong, L, St-Onge, J, Thibodeau, P, Rivière, J B, Desautels, A, Turecki, G, Dubé, M P, Rouleau, G A
Published in Neurology (12.09.2006)
Published in Neurology (12.09.2006)
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
Bruel, A.‐L., Thevenon, J., Huet, F., Jean‐Marcais, N., Odent, S., Dubourg, C., Lehalle, D., Tran Mau‐Them, F., Philippe, C., Moutton, S., Houcinat, N., Gay, S., Guibaud, L., Duffourd, Y., Rivière, J.‐B., Faivre, L., Thauvin‐Robinet, C.
Published in Clinical Genetics (01.07.2018)
Published in Clinical Genetics (01.07.2018)
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population
DIAZ-ANZALDUA, A, JOOBER, R, RIVIERE, J.-B, DION, Y, LESPERANCE, P, RICHER, F, CHOUINARD, S, ROULEAU, G. A
Published in Molecular psychiatry (01.03.2004)
Published in Molecular psychiatry (01.03.2004)
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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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Distal truncation of KCC3 in non-French Canadian HMSN/ACC families
Salin-Cantegrel, A, Rivière, J-B, Dupré, N, Charron, F M, Shekarabi, M, Karéméra, L, Gaspar, C, Horst, J, Tekin, M, Deda, G, Krause, A, Lippert, M M, Willemsen, M A A P, Jarrar, R, Lapointe, J-Y, Rouleau, G A
Published in Neurology (25.09.2007)
Published in Neurology (25.09.2007)
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Programmed cell death (apoptosis) is induced rapidly and with positive cooperativity by activation of cyclic adenosine monophosphate-kinase I in a myeloid leukemia cell line
Lanotte, M, Riviere, J B, Hermouet, S, Houge, G, Vintermyr, O K, Gjertsen, B T, Døskeland, S O
Published in Journal of cellular physiology (01.01.1991)
Published in Journal of cellular physiology (01.01.1991)
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