Search Results - "Delobel, Bruno"

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome by Pennamen, Perrine, Le, Linh, Tingaud-Sequeira, Angèle, Fiore, Mathieu, Bauters, Anne, Van Duong Béatrice, Nguyen, Coste, Valentine, Bordet, Jean-Claude, Plaisant, Claudio, Diallo, Modibo, Michaud, Vincent, Trimouille, Aurélien, Lacombe, Didier, Lasseaux, Eulalie, Delevoye, Cédric, Picard, Fanny Morice, Delobel, Bruno, Marks, Michael S., Arveiler, Benoit

“…Hermansky–Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes…”
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The electrode tortuosity factor: why the conventional tortuosity factor is not well suited for quantifying transport in porous Li-ion battery electrodes and what to use instead by Nguyen, Tuan-Tu, Demortière, Arnaud, Fleutot, Benoit, Delobel, Bruno, Delacourt, Charles, Cooper, Samuel J.

“…The tortuosity factor of porous battery electrodes is an important parameter used to correlate electrode microstructure with performance through numerical…”
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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis by Arnaud, Pauline, Racine, Caroline, Hanna, Nadine, Thevenon, Julien, Alessandri, Jean-Luc, Bonneau, Dominique, Clayton-Smith, Jill, Coubes, Christine, Delobel, Bruno, Dupuis-Girod, Sophie, Gouya, Laurent, Odent, Sylvie, Carmignac, Virginie, Thauvin-Robinet, Christel, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Faivre, Laurence

“…SKI pathogenic variations are associated with Shprintzen–Goldberg Syndrome (SGS), a rare systemic connective tissue disorder characterized by craniofacial,…”
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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype by Micol, Romain, MD, MPH, PhD, Ben Slama, Lilia, PhD, Suarez, Felipe, MD, PhD, Le Mignot, Loïc, MSc, Beauté, Julien, MD, MSc, Mahlaoui, Nizar, MD, MSc, Dubois d’Enghien, Catherine, BSc, Laugé, Anthony, BSc, Hall, Janet, PhD, Couturier, Jérôme, MD, Vallée, Louis, MD, Delobel, Bruno, MD, Rivier, François, MD, PhD, Nguyen, Karine, MD, Billette de Villemeur, Thierry, MD, Stephan, Jean-Louis, MD, Bordigoni, Pierre, MD, Bertrand, Yves, MD, Aladjidi, Nathalie, MD, Pedespan, Jean-Michel, MD, Thomas, Caroline, MD, Pellier, Isabelle, MD, MSc, Koenig, Michel, MD, PhD, Hermine, Olivier, MD, PhD, Picard, Capucine, MD, PhD, Moshous, Despina, MD, PhD, Neven, Bénédicte, MD, PhD, Lanternier, Fanny, MD, Blanche, Stéphane, MD, Tardieu, Marc, MD, PhD, Debré, Marianne, MD, Fischer, Alain, MD, PhD, Stoppa-Lyonnet, Dominique, MD, PhD

“…Background Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene (ATM) that…”
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis by Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise

“…Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted…”
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 by El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée

“…6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1…”
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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases by Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris

“…Abstract Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by…”
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CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability by Montagne, Louise, Derhourhi, Mehdi, Piton, Amélie, Toussaint, Bénédicte, Durand, Emmanuelle, Vaillant, Emmanuel, Thuillier, Dorothée, Gaget, Stefan, De Graeve, Franck, Rabearivelo, Iandry, Lansiaux, Amélie, Lenne, Bruno, Sukno, Sylvie, Desailloud, Rachel, Cnop, Miriam, Nicolescu, Ramona, Cohen, Lior, Zagury, Jean-François, Amouyal, Mélanie, Weill, Jacques, Muller, Jean, Sand, Olivier, Delobel, Bruno, Froguel, Philippe, Bonnefond, Amélie

“…The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an…”
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Formation of Nanometric HT-LiCoO2 by a Precipitation and Aging Process in an Alcoholic Solution by Larcher, Dominique, Delobel, Bruno, Dantras-Laffont, Lydia, Simon, Evelyne, Blach, Jean-François, Baudrin, Emmanuel

“…In this paper, we detailed the formation/evolution of precipitates in alcoholic media containing CoII+ and Li+ species, together with the evolution of the…”
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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency by Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D J

“…Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion…”
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One-step precipitation of nanometric LiMO2 powders (M=Co, Fe) in alcoholic media by Delobel, Bruno, Larcher, Dominique, Blach, Jean-François, Croguennec, Laurence, Ménétrier, Michel, Simon, Evelyne, Baudrin, Emmanuel

“…We describe here a new synthesis route for the direct and controlled precipitation of monodispersed nanometric LiMO2 (M = Co, Fe) powders in alcoholic media…”
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Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH by Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie‐Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco‐Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier‐Hanu, Sylvie, Holder‐Espinasse, Muriel

“…Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array‐CGH. Clinical features associate mild to moderate…”
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Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations by MIGNON-RAVIX, Cécile, DEPETRIS, Danielle, KROISEL, Peter M, MATTEI, Marie-Geneviève, LUCIANI, Judith J, CUOCO, Cristina, KRAJEWSKA-WALASEK, Malgorzata, MISSIRIAN, Chantal, COLLIGNON, Patrick, DELOBEL, Bruno, CROQUETTE, Marie-Francoise, MONCLA, Anne

“…Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45…”
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Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage by Perrin, Aurore, Ph.D, Delobel, Bruno, M.D, Andrieux, Joris, M.D., Ph.D, Gosset, Philippe, M.D, Gueganic, Nadia, B.Sc, Petit, Florence, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D

“…Objective To characterize a t(2;6) by array-based comparative genomic hybridization (array-CGH) in a couple with recurrent miscarriage, to analyze the meiotic…”
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High reactivity of the nickel-rich LiNi1-x-yMnxCoyO2 layered materials surface towards H2O/CO2 atmosphere and LiPF6-based electrolyte by Martinez, Ana Cristina, Grugeon, Sylvie, Cailleu, Dominique, Courty, Matthieu, Tran-Van, Pierre, Delobel, Bruno, Laruelle, Stephane

“…Storage of nickel-rich LiNi1-x-yMnxCoyO2 positive active materials under improper environmental conditions brings about undesirable surface reactions causing…”
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Quantification of preferred orientation in graphite electrodes for Li-ion batteries with a novel X-ray-diffraction-based method by Malifarge, Simon, Delobel, Bruno, Delacourt, Charles

“…To answer the demand of increased autonomy in transportation applications, the energy density of battery electrode need to be enhanced. The porous electrode…”
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On the electrochemical impedance response of composite insertion electrodes – Toward a better understanding of porous electrodes by Gruet, David, Delobel, Bruno, Sicsic, David, Lucas, Ivan T., Vivier, Vincent

“…Electrochemical Impedance Spectroscopy (EIS) is a powerful tool to assess and understand the degradation of Li-ion battery (LIB) performances during operation…”
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3D Quantification of Microstructural Properties of LiNi0.5Mn0.3Co0.2O2 High‐Energy Density Electrodes by X‐Ray Holographic Nano‐Tomography by Nguyen, Tuan‐Tu, Villanova, Julie, Su, Zeliang, Tucoulou, Rémi, Fleutot, Benoît, Delobel, Bruno, Delacourt, Charles, Demortière, Arnaud

“…Despite significant progress in the field of tomography, capturing the carbon binder domain (CBD) morphology presented in the Li‐ion electrode remains…”
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Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in theWFS1 gene by Giuliano, Fabienne, Bannwarth, Sylvie, Monnot, Sophie, Cano, Aline, Chabrol, Brigitte, Vialettes, Bernard, Delobel, Bruno, Paquis-Flucklinger, Veronique

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Electrochemical behavior of pure graphite studied with a powder microelectrode by Gruet, David, Delobel, Bruno, Sicsic, David, Lucas, Ivan T., Turmine, Mireille, Vivier, Vincent

“…In this work, cyclic voltammetry and electrochemical impedance spectroscopy (EIS) techniques have been used to study the lithiation/delithiation of graphite…”
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