檢索結果 - Sandra Chantot‐Bastaraud

Refine Results
  1. 1
    Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder

    Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder 由 G Vinci, Sandra Chantot‐Bastaraud, Brahim El Houate, Stephen Lortat‐Jacob, Raja Brauner, Ken McElreavey

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome 由 Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud, Sandra Chantot‐Bastaraud, Eli Lieber, Irène Netchine, Madeleine D. Harbison

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation... 由 Stéphanie Maupetit‐Mehouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynès, Guiomar Pérez de Nanclares, Boris Keren, Sandra Chantot‐Bastaraud, Anne Barlier, Agnès Linglart, Irène Netchine

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts

    Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts 由 Célia Ravel, Sandra Chantot‐Bastaraud, Clémentine Chalmey, Luis B. Barreiro, Isabelle Aknin‐Seifer, Jérôme Pfeffer, Isabelle Berthaut, E. Emmanuelle Mathieu, Jacqueline Mandelbaum, Jean‐Pierre Siffroi, Ken McElreavey, Anu Bashamboo

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Mutations in the protamine 1 gene associated with male infertility

    Mutations in the protamine 1 gene associated with male infertility 由 Célia Ravel, Sandra Chantot‐Bastaraud, Brahim El Houate, Isabelle Berthaut, Lieve Verstraete, V. de Larouzière, Diana Lourenço, Anne Dumaine, J.-M. Antoine, Jacqueline Mandelbaum, Jean Pierre Siffroi, Ken McElreavey

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)

    Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD) 由 Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot, Matthieu Peycelon, Mathilde Sibony, Sandra Rojo, Xavier Piguel, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Alain Kitzis, Ken McElreavey, Jean‐Pierre Siffroi, Anu Bashamboo

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... 由 Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders 由 Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences 由 Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

    Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia 由 Marjorie Whitfield, Lucie Thomas, Émilie Béquignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, S. Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot‐Bastaraud, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean‐Pierre Siffroi, Jean‐François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient 由 Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    出版 2012
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders 由 Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud, B Benyahia, Oriane Trouillard, Gudrun Nygren, Svenny Kopp, Maria Johansson, Maria Råstam, Lydie Bürglen, Eric Leguern, Alain Verloès, Marion Leboyer, Alexis Brice, Christopher Gillberg, Catalina Betancur

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression 由 Cyril Mignot, Emmanuelle Apartis, Alexandra Dürr, Charles Marques Lourenço, Perrine Charles, David Devos, Caroline Moreau, Pascale de Lonlay, Nathalie Drouot, Lydie Bürglen, Nadine Kempf, Elsa Nourisson, Sandra Chantot‐Bastaraud, Anne-Sophie Lèbre, Marlène Rio, Yves Chaix, Éric Bieth, Emmanuel Roze, I Bonnet, Sandrine Canaple, Coralie Rastel, Alexis Brice, Agnès Rötig, Isabelle Desguerre, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy

    Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy 由 Christina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, Cécile Méjécase, Luiza M. Neves, Camille Letellier, Christel Condroyer, Shahad Albadri, Andréa Amprou, Aline Antonio, Tasnim Ben Yacoub, Juliette Wohlschlegel, Camille Andrieu, Malo Serafini, Lorenzo Bianco, Alessio Antropoli, Marco Nassisi, Saïd El Shamieh, Sandra Chantot‐Bastaraud, Saddek Mohand‐Saïd, Vasily Smirnov, José‐Alain Sahel, Filippo Del Bene, Isabelle Audo

    出版 2024
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... 由 Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome 由 Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    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 由 Crystel Bonnet, Zied Riahi, Sandra Chantot‐Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, G. Lefèvre, Jean‐Pierre Hardelin, A. Amraoui, Amrit Singh‐Estivalet, Saddek Mohand‐Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraitytė, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell, M.A. Clavería, Jaume Catalá‐Mora, Shzeena Dad, Lisbeth Birk Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José‐Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

    Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies 由 Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo, Selma F. Witchel, Andrew Duncan, Caroline Eozénou, Joëlle Bignon-Topalovic, Svetlana A. Yatsenko, Aleksandar Rajkovic, Miguel Reyes‐Múgica, Kristian Almstrup, Leila Fusée, Yogesh Srivastava, Sandra Chantot‐Bastaraud, Capucine Hyon, Christine Louis-Sylvestre, Pierre Validire, Caroline de Malleray Pichard, Célia Ravel, Sophie Christin‐Maître, Raja Brauner, Raffaella Rossetti, Luca Persani, Eduardo H. Charreau, Liliana Daín, Violeta A. Chiauzzi, Inas Mazen, Hassan Rouba, Caroline Schluth–Bolard, Stuart A. MacGowan, W.H. Irwin McLean, Étienne Patin, Ewa Rajpert‐De Meyts, Ralf Jauch, John C. Achermann, Jean‐Pierre Siffroi, Ken McElreavey, Anu Bashamboo

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation 由 Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome 由 Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: