Search Results - "Robinet, C."

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test by 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.

“…The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic encephalopathy (EE) results in a diagnostic yield of ∼50%…”
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3D global optimal forcing and response of the supersonic boundary layer by Bugeat, B., Chassaing, J.-C., Robinet, J.-C., Sagaut, P.

“…3D optimal forcing and response of a 2D supersonic boundary layer are obtained by computing the largest singular value and the associated singular vectors of…”
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Brain-derived neurotrophic factor enhances the hippocampal expression of key postsynaptic proteins in vivo including the monocarboxylate transporter MCT2 by Robinet, C, Pellerin, L

“…Abstract Brain-derived neurotrophic factor (BDNF) promotes synaptic plasticity via an enhancement in expression of specific synaptic proteins. Recent results…”
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Global transition dynamics of flow in a lid-driven cubical cavity by Ranjan, Rajesh, Unnikrishnan, S., Robinet, J.-C., Gaitonde, Datta

“…The dynamics of a fully three-dimensional lid-driven cubical cavity (3D-LDC) flow at several post-critical conditions, i.e., beyond the first bifurcation, are…”
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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations by Theiler, M., Weibel, L., Christen‐Zaech, S., Carmignac, V., Sorlin, A., Neuhaus, K., Chevarin, M., Thauvin‐Robinet, C., Philippe, C., Faivre, L., Vabres, P., Kuentz, P.

“…Background Postzygotic mutations in FGFR2 have been identified in mosaic forms of acne, keratinocytic epidermal nevi, nevoid acanthosis nigricans / rounded and…”
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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis by 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.

“…Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV),…”
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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway by Bourgon, N., Carmignac, V., Sorlin, A., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P., Tisserand, Emilie, Chevarin, Martin, Delanne, Julian, Jouan, Thibaud, Pöe, Charlotte, Abel, Carine, Allory, Patrick, Amram, Daniel, Attie‐Bitach, Tania, Aziza, Jacqueline, Benevent, Jean‐Baptiste, Bidat, Laurent, Bessières, Bettina, Boussion, Françoise, Cabaret‐Dufour, Anne‐Sophie, Chanoz‐Poulard, Geneviève, Chassaing, Nicolas, Ciorna‐Monferrato, Viorica, Cordier, Anne‐Gaëlle, Cordier, Marie‐Pierre, Cuillier, Fabrice, Doray, Berenice, Encha‐Razavi, Ferechte, Eszto, Marie‐Laure, Bianco, Catherine Fallet, Fernandez, Carla, Ferry, Mathilde, Fichez, Axel, Vequeau, Valérie Goua, Grevent, David, Guichet, Agnès, Laurent, Nicole, Le Gac, Marie‐Pascale, Lefebvre, Mathilde, Letard, Pascaline, Loget, Philippe, Loisel, Didier, Martinovich, Jelena, Masutti, Jean‐Paul, Millischer, Anne‐Elodie, Musizzano, Yuri, Nord, Jean‐François, Perez, Marie‐Josée, Prieur, Fabienne, Proisy, Maia, Quelin, Chloé, Roth, Philippe, Rousseau, Thierry, Salomon, Laurent, Sonigo, Pascale, Spaggiari, Emmanuel, Stempfle, Noëlle, Stirnemann, Julien, Tanteau, Julia, Triau, Stéphane, Vasiljevic, Alexandre, Ville, Yves, Zidane‐Marinnes, Merzouka, Kaltenbach, Sophie, Rivière, Jean‐Baptiste

“…ABSTRACT Objectives To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and…”
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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features by Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.

“…Marfanoid habitus (MH) combined with intellectual disability (ID) is a genetically and clinically heterogeneous group of overlapping disorders. We performed…”
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management by 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.

“…SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O),…”
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia by Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

“…Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide…”
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes by 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.

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Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature by Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pelissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.L., Goussot, V., Ghiringhelli, F., Boidot, R., Tran Mau-Them, F., Philippe, C., Vitobello, A., Demougeot, L., Vernin, C., Lapointe, A.S., Bardou, M., Luu, M., Binquet, C., Lejeune, C., Joly, L., Juif, C., Baurand, A., Sawka, C., Bertolone, G., Duffourd, Y., Sanlaville, D., Pujol, P., Geneviève, D., Houdayer, F., Thauvin-Robinet, C., Faivre, L.

“…With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information…”
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INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report by Bruel, A.‐L., Levy, J., Elenga, N., Defo, A., Favre, A., Lucron, H., Capri, Y., Perrin, L., Passemard, S., Vial, Y., Tabet, A.‐C., Faivre, L., Thauvin‐Robinet, C., Verloes, A.

“…Oral‐facial‐digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co‐occurrence of hamartomas and/or multiple frenula of the oral region…”
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The influence of a pressure wavepacket's characteristics on its acoustic radiation by Serré, R, Robinet, J-C, Margnat, F

“…Noise generation by flows is modeled using a pressure wavepacket to excite the acoustic medium via a boundary condition of the homogeneous wave equation. The…”
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Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives by Houdayer, F., Putois, O., Babonneau, M.L., Chaumet, H., Joly, L., Juif, C., Michon, C.C., Staraci, S., Cretin, E., Delanoue, S., Charron, P., Chassagne, A., Edery, P., Gautier, E., Lapointe, A.S., Thauvin-Robinet, C., Sanlaville, D., Gargiulo, M., Faivre, L.

“…Access to active search for actionable secondary findings (SF) in diagnostic practice is a major psychological and ethical issue for genomic medicine. In this…”
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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 by 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.

“…Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay,…”
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Diffusion of organic anions in clay-rich media: Retardation and effect of anion exclusion by Dagnelie, R.V.H., Rasamimanana, S., Blin, V., Radwan, J., Thory, E., Robinet, J.-C., Lefèvre, G.

“…The transport of emerging organic contaminants through the geosphere is often an environmental issue. The sorption of organic compounds slows their transport…”
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Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus by 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.

“…Summary Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In…”
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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy by Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., Vitobello, A.

“…Purpose Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral…”
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Upscaling the porosity of the Callovo-Oxfordian mudstone from the pore scale to the formation scale; insights from the 3H-PMMA autoradiography technique and SEM BSE imaging by Robinet, J.C., Sardini, P., Siitari-Kauppi, M., Prêt, D., Yven, B.

“…The Callovo-Oxfordian mudstone (Meuse/Haute-Marne, France) is currently considered as the host rock barrier for a deep geological repository. The intimate…”
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