檢索結果 - Marlin, Sandrine 

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 由 Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege

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Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS 由 Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

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Role of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy 由 Jeru, Isabelle, Hentgen, Véronique, Normand, Sylvain, Duquesnoy, Philippe, Cochet, Emmanuelle, Delwail, Adriana, Grateau, Gilles, Marlin, Sandrine, Amselem, Serge, Lecron, Jean-Claude

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Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection 由 Vauloup-Fellous, Christelle, Ducroux, Aurélie, Couloigner, Vincent, Marlin, Sandrine, Picone, Olivier, Galimand, Julie, Loundon, Natalie, Denoyelle, Françoise, Grangeot-Keros, Liliane, Leruez-Ville, Marianne

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Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence 由 Morice, Anne, Soupre, Véronique, Mitanchez, Delphine, Renault, Francis, Fauroux, Brigitte, Marlin, Sandrine, Leboulanger, Nicolas, Kadlub, Natacha, Vazquez, Marie-Paule, Picard, Arnaud, Abadie, Véronique

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Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort 由 Smirnov, Vasily M., Nassisi, Marco, Mohand-Saïd, Saddek, Bonnet, Crystel, Aubois, Anne, Devisme, Céline, Dib, Thilissa, Zeitz, Christina, Loundon, Natalie, Marlin, Sandrine, Petit, Christine, Bodaghi, Bahram, Sahel, José-Alain, Audo, Isabelle

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Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1 由 Chopra, Maya, Caswell, Richard, Barcia, Giulia, Rondeau, Sophie, Jonard, Laurence, Nitchké, Patrick, Amram, Daniel, Bellaiche, Marc-Lionel, Abadie, Veronique, Parodi, Marine, Denoyelle, Francoise, Hattersley, Andrew, Bole, Christine, Lyonnet, Stanislas, Marlin, Sandrine

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The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells 由 Pepermans, Elise, Michel, Vincent, Goodyear, Richard, Bonnet, Crystel, Abdi, Samia, Dupont, Typhaine, Gherbi, Souad, Holder, Muriel, Makrelouf, Mohamed, Hardelin, Jean-Pierre, Marlin, Sandrine, Zenati, Akila, Richardson, Guy, Avan, Paul, Bahloul, Amel, Petit, Christine

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 由 Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation 由 Coez, Arnaud, Fillon, Ludovic, Saitovitch, Ana, Rutten, Caroline, Marlin, Sandrine, Boisgontier, Jennifer, Vinçon-Leite, Alice, Lemaitre, Hervé, Grévent, David, Roux, Charles-Joris, Dangouloff-Ros, Volodia, levy, Raphaël, Bizaguet, Eric, Rouillon, Isabelle, Garabédian, Eréa Noël, Denoyelle, Françoise, Zilbovicius, Monica, Loundon, Natalie, Boddaert, Nathalie

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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness 由 Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege

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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 由 Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease 由 Luscan, Romain, Mechaussier, Sabrina, Paul, Antoine, Tian, Guoling, Gérard, Xavier, Defoort-Dellhemmes, Sabine, Loundon, Natalie, Audo, Isabelle, Bonnin, Sophie, LeGargasson, Jean-François, Dumont, Julien, Goudin, Nicolas, Garfa-Traoré, Meriem, Bras, Marc, Pouliet, Aurore, Bessières, Bettina, Boddaert, Nathalie, Sahel, José-Alain, Lyonnet, Stanislas, Kaplan, Josseline, Cowan, Nicholas J., Rozet, Jean-Michel, Marlin, Sandrine, Perrault, Isabelle

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases 由 Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine

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Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study 由 del Castillo, Ignacio, Moreno-Pelayo, Miguel A., del Castillo, Francisco J., Brownstein, Zippora, Marlin, Sandrine, Adina, Quint, Cockburn, David J., Pandya, Arti, Siemering, Kirby R., Chamberlin, G. Parker, Ballana, Ester, Wuyts, Wim, Maciel-Guerra, Andréa Trevas, Álvarez, Araceli, Villamar, Manuela, Shohat, Mordechai, Abeliovich, Dvorah, Dahl, Hans-Henrik M., Estivill, Xavier, Gasparini, Paolo, Hutchin, Tim, Nance, Walter E., Sartorato, Edi L., Smith, Richard J. H., Van Camp, Guy, Avraham, Karen B., Petit, Christine, Moreno, Felipe

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients 由 Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients 由 Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 由 Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis 由 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

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders 由 Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique

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