Ohcanbohtosat - Benoı̂t Arveiler

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  1. 1
    A patient with TPCN2-related hypopigmentation and ocular phenotype

    A patient with TPCN2-related hypopigmentation and ocular phenotype Dahkki Cécile Courdier, Vincent Michaud, Modibo Diallo, Claudio Plaisant, Eulalie Lasseaux, Isabelle Helot, Élodie Philippe, Els Vrielynck, Marjolaine Willems, Benoı̂t Arveiler

    Almmustuhtton 2025
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  2. 2
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism Dahkki Vincent Michaud, Eulalie Lasseaux, David Green, Dave T. Gerrard, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Benoı̂t Arveiler, Graeme Black, Panagiotis I. Sergouniotis

    Almmustuhtton 2022
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  3. 3
    Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

    Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Dahkki Geneviève de Saint Basile, Benoı̂t Arveiler, I. Oberlé, S Malcolm, R J Levinsky, YL Lau, Marten H. Hofker, Marianne Debré, Alain Fischer, C Griscelli

    Almmustuhtton 1987
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  4. 4
    Molecular characterization of a series of 990 index patients with albinism

    Molecular characterization of a series of 990 index patients with albinism Dahkki Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurélien Trimouille, Laëtitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice‐Picard, Benoı̂t Arveiler

    Almmustuhtton 2018
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  5. 5
    A novel de novo mutation in MYT1, the unique OAVS gene identified so far

    A novel de novo mutation in MYT1, the unique OAVS gene identified so far Dahkki Marie Berenguer, Angèle Tingaud‐Sequeira, Mileny Esbravatti Stephano Colovati, Maria Isabel Melaragno, Silvia Bragagnolo, Ana Beatriz Alvarez Pérez, Benoı̂t Arveiler, Didier Lacombe, Caroline Rooryck

    Almmustuhtton 2017
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  6. 6
    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome Dahkki Éric Bieth, Sanaa Eddiry, Véronique Gaston, F. Lorenzini, Alexandre Buffet, Françoise Auriol, Catherine Molinas, Dorothée Cailley, Caroline Rooryck, Benoı̂t Arveiler, Jérôme Cavaillé, Jean‐Pierre Salles, Maïthé Tauber

    Almmustuhtton 2014
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  7. 7
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients Dahkki Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    Almmustuhtton 2011
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  8. 8
    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplas... Dahkki Delphine Simon, Benoît Laloo, Malika Barillot, Thomas Barnetche, Camille Blanchard, Caroline Rooryck, Michèle Marche, Ingrid Burgelin, Isabelle Coupry, Nicolas Chassaing, Brigitte Gilbert‐Dussardier, Didier Lacombe, Christophe F. Grosset, Benoı̂t Arveiler

    Almmustuhtton 2010
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  9. 9
    Dopachrome tautomerase variants in patients with oculocutaneous albinism

    Dopachrome tautomerase variants in patients with oculocutaneous albinism Dahkki Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian J. Jackson, Benoı̂t Arveiler

    Almmustuhtton 2020
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  10. 10
    Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

    Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... Dahkki Claudia Braida, Rhoda Stefanatos, Berit Adam, Navdeep Mahajan, H.J.M. Smeets, Florence Niel, Cyril Goizet, Benoı̂t Arveiler, Michel Kœnig, Clotilde Lagier‐Tourenne, Jean‐Louis Mandel, Catharina G. Faber, Christine de Die‐Smulders, Frank Spaans, Darren G. Monckton

    Almmustuhtton 2010
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  11. 11
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome Dahkki Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    Almmustuhtton 2007
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  12. 12
    BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

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

    Almmustuhtton 2020
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  13. 13
    Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

    Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome Dahkki Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz‐Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot, Jean‐Marie Daniel Lamazière, Philippe Rameau, Patricia Fergelot, Caroline Rooryck, Dorothée Cailley, Benoı̂t Arveiler, Didier Lacombe, William Vainchenker, Alan T. Nurden, Cyril Goizet

    Almmustuhtton 2011
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  14. 14
    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures Dahkki Gaëlle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie‐Ange Delrue, Laëtitia Duboscq-Bidot, Ann‐Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Métay, A. Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie‐Pierre Quéré, Cecilia Soussi‐Zander, Annick Toutain, Didier Lacombe, Benoı̂t Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David, Cédric Le Caignec

    Almmustuhtton 2012
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  15. 15
    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia Dahkki Helen J. Kuht, Gail Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Grønskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae‐Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Yuiti Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoı̂t Arveiler, Lluı́s Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irène Gottlob, Mervyn G. Thomas

    Almmustuhtton 2022
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  16. 16
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Dahkki Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    Almmustuhtton 2011
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  17. 17
    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study Dahkki Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban

    Almmustuhtton 2018
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  18. 18
    Effects of eight neuropsychiatric copy number variants on human brain structure

    Effects of eight neuropsychiatric copy number variants on human brain structure Dahkki Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong

    Almmustuhtton 2021
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  19. 19
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Dahkki Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Almmustuhtton 2025
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