Výsledky vyhledávání - Pascale Marcorelles

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  1. 1
    A p16-Ki-67-HMB45 immunohistochemistry scoring system as an ancillary diagnostic tool in the diagnosis of melanoma

    A p16-Ki-67-HMB45 immunohistochemistry scoring system as an ancillary diagnostic tool in the diagnosis of melanoma Autor Arnaud Uguen, Matthieu Talagas, Sebastian Costa, Sandrine Duigou, Stéphanie Bouvier, Marc De Braekeleer, Pascale Marcorelles

    Vydáno 2015
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  2. 2
    CD133 Is a Marker of Bioenergetic Stress in Human Glioma

    CD133 Is a Marker of Bioenergetic Stress in Human Glioma Autor Corinne E. Griguer, Claudia R. Oliva, Eric Gobin, Pascale Marcorelles, Dale Benos, Jack R. Lancaster, G. Yancey Gillespie

    Vydáno 2008
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  3. 3
    PLGF, a placental marker of fetal brain defects after in utero alcohol exposure

    PLGF, a placental marker of fetal brain defects after in utero alcohol exposure Autor Matthieu Lecuyer, Annie Laquerrière, Soumeya Bekri, Céline Lesueur, Yasmina Ramdani, Sylvie Jégou, Arnaud Uguen, Pascale Marcorelles, Stéphane Marret, Bruno J. Gonzalez

    Vydáno 2017
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  4. 4
    Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series

    Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series Autor A. Furby, Anthony Béhin, J.-P. Lefaucheur, Katell Beauvais, Pascale Marcorelles, J.M. Mussini, Guillaume Bassez, Alain Créange, B. Eymard, I. Pénisson-Besnier

    Vydáno 2009
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  5. 5
    Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain

    Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain Autor Sylvie Jégou, Faiza El Ghazi, Pamela Kwetieu de Lendeu, Stéphane Marret, Vincent Laudenbach, Arnaud Uguen, Pascale Marcorelles, Vincent Roy, Annie Laquerrière, Bruno J. Gonzalez

    Vydáno 2012
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  6. 6
    Pathophysiological Study of Sensitive Skin

    Pathophysiological Study of Sensitive Skin Autor Virginie Buhé, Katell Vié, Christelle Guéré, Audrey Natalizio, C. LʼHéritier, C. Le Gall‐Ianotto, F. Huet, Matthieu Talagas, Nicolas Lebonvallet, Pascale Marcorelles, J. Carré, L. Misery

    Vydáno 2015
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  7. 7
    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases Autor Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière

    Vydáno 2008
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  8. 8
    A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

    A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family Autor Paul Guéguen, Karen Rouault, Jian‐Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan‐Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean‐François Abgrall, Cédric Le Maréchal, Claude Férec

    Vydáno 2013
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  9. 9
    Reliability of histopathological salivary gland biopsy assessment in Sjogren's syndrome: a multicentre cohort study

    Reliability of histopathological salivary gland biopsy assessment in Sjogren's syndrome: a multicentre cohort study Autor Sandra Costa, Isabelle Quintin‐Roué, A. Lesourd, S. Jousse-Joulin, Jean‐Marie Berthelot, É. Hachulla, P.Y. Hatron, Vincent Goëb, O. Vittecoq, J.‐O. Pers, Pascale Marcorelles, E. Nowak, Alain Saraux, V. Devauchelle-Pensec

    Vydáno 2014
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  10. 10
    High-Grade Salivary-Gland Involvement, Assessed by Histology or Ultrasonography, Is Associated with a Poor Response to a Single Rituximab Course in Primary Sjögren’s Syndrome: Data from the TEARS Randomized Trial

    High-Grade Salivary-Gland Involvement, Assessed by Histology or Ultrasonography, Is Associated with a Poor Response to a Single Rituximab Course in Primary Sjögren’s Syndrome: Data... Autor Divi Cornec, Sandrine Jousse‐Joulin, Sebastian Costa, Thierry Marhadour, Pascale Marcorelles, Jean‐Marie Berthelot, É. Hachulla, Pierre‐Yves Hatron, Vincent Goëb, Olivier Vittecoq, Emmanuel Nowak, Jacques‐Olivier Pers, Valérie Devauchelle‐Pensec, Alain Saraux

    Vydáno 2016
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  11. 11
    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation Autor Gilles Morin, Valérie Biancalana, Andoni Echaniz‐Laguna, Jean‐Baptiste Noury, Xavière Lornage, Maurizio Moggio, Michela Ripolone, Raffaella Violano, Pascale Marcorelles, Denis Maréchal, Florence Renaud, Claude‐Alain Maurage, Céline Tard, Jean‐Marie Cuisset, Jocelyn Laporte, Johann Böhm

    Vydáno 2019
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  12. 12
    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis Autor Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi

    Vydáno 2012
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  13. 13
    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Autor Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

    Vydáno 2013
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  14. 14
    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly Autor Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, Ferechté Razavi, Fabien Guimiot, Patrícia Dias, Laurence Lœuillet, Karine Lascelles, Chérif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revençu, Marie‐Claude Addor, Benoît Lhermitte, Marie Gonzalès, Jelena Martinovich, Bettina Bessières, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi‐Buisson

    Vydáno 2014
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  15. 15
    K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

    K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity Autor Nancy Mokbel, Biljana Ilkovski, Michaela Kreissl, Massimiliano Memo, Cy M. Jeffries, M. Marttila, Vilma‐Lotta Lehtokari, Elina Lemola, Mikaela Grönholm, Nan Yang, Dominique Ménard, Pascale Marcorelles, Andoni Echaniz‐Laguna, Jens Reimann, Mariz Vainzof, Nicole Monnier, Gianina Ravenscroft, Elyshia McNamara, Kristen L. Nowak, Nigel G. Laing, Carina Wallgren‐Pettersson, Jill Trewhella, Steven B. Marston, Coen A. C. Ottenheijm, Kathryn N. North, Nigel F. Clarke

    Vydáno 2013
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  16. 16
    Renal Tubular Dysgenesis, a Not Uncommon Autosomal Recessive Disorder Leading to Oligohydramnios

    Renal Tubular Dysgenesis, a Not Uncommon Autosomal Recessive Disorder Leading to Oligohydramnios Autor Mireille Lacoste, Yi Cai, Liliane Guicharnaud, FrancCOMBINING CEDILLAoise Mounier, Yves Dumez, Raymonde Bouvier, FreCombining Acute AccentdeCombining Acute Accentrique Dijoud, Marie Gonzalès, Jane Chatten, Anne‐Lise Delezoide, Laurent Daniel, Madeleine Joubert, Nicole Laurent, Jacqueline Aziza, Tahya Sellami, H. Ben Amar, C Jarnet, Anne Marie Frances, Farida DaiCombining Diaeresiskha-Dahmane, Aurore Coulomb, Thomas J. Neuhaus, B. Foliguet, Pierre Chenal, Pascale Marcorelles, Jean Marie Gasc, Pierre Corvol, Marie‐Claire Gubler

    Vydáno 2006
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  17. 17
    Molecular heterogeneity in fetal forms of type II lissencephaly

    Molecular heterogeneity in fetal forms of type II lissencephaly Autor C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, Louise Devisme, C. Lebizec, Elisabeth Alanio, Anne Bazin, B. Bessières-Grattagliano, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Dominique Carles, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, B. Gasser, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, F. Menez, Sophie Patrier, Fanny Pelluard-Nehmé, Marie-José Perez, C. Rouleau-Dubois, Stéphane Triau, A. Laquérrière, Férechté Encha‐Razavi, Nathalie Seta

    Vydáno 2007
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  18. 18
    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome Autor Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie‐Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzalès, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie‐Christine Dauge, J. Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Ménez, A. M. Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Münnich, Stanislas Lyonnet, Marie‐Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach

    Vydáno 2007
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  19. 19
    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies Autor Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi

    Vydáno 2012
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  20. 20
    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Autor Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola Foulds, Simon Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill‐Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano‐Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

    Vydáno 2022
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