Search Results - Marlin, Sandrine 

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  1. 1
    Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

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

    Published 2012
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  2. 2
    Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

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

    Published 2020
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  3. 3
    Role of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy

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

    Published 2011
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  4. 4
    Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection

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

    Published 2007
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  5. 5
    Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence

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

    Published 2018
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  6. 6
    Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

    Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort by 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

    Published 2022
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  7. 7
    Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1

    Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1 by 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

    Published 2022
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  8. 8
    The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

    The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells by 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

    Published 2014
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  9. 9
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 by 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 

    Published 2007
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  10. 10
    Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation

    Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation by 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

    Published 2020
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  11. 11
    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness by 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

    Published 2013
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  12. 12
    Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

    Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 by 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

    Published 2011
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  13. 13
    Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

    Mutations in TUBB4B Cause a Distinctive Sensorineural Disease by 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

    Published 2017
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  14. 14
    FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

    FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases by 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

    Published 2017
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  15. 15
    Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

    Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study by 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

    Published 2003
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  16. 16
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients by 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

    Published 2014
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  17. 17
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients by 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

    Published 2014
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  18. 18
    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients by 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

    Published 2016
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  19. 19
    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    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

    Published 2011
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  20. 20
    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders by 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

    Published 2013
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