检索结果 - Agnès Bloch‐Zupan

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  1. 1
    Hypophosphatasia: diagnosis and clinical signs – a dental surgeon perspective

    Hypophosphatasia: diagnosis and clinical signs – a dental surgeon perspective 由 Agnès Bloch‐Zupan

    出版 2016
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  2. 2
    Amelogenesis imperfecta

    Amelogenesis imperfecta 由 P J Crawford, Michael J. Aldred, Agnès Bloch‐Zupan

    出版 2007
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  3. 3
    Clinical utility gene card for: Hypophosphatasia – update 2013

    Clinical utility gene card for: Hypophosphatasia – update 2013 由 Étienne Mornet, Christine Hofmann, Agnès Bloch‐Zupan, Hermann Girschick, Martine Le Merrer

    出版 2013
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  4. 4
    Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

    Orodental phenotype and genotype findings in all subtypes of hypophosphatasia 由 Amélie Reibel, Marie‐Cécile Manière, François Clauss, D Droz, Yves Alembik, Étienne Mornet, Agnès Bloch‐Zupan

    出版 2009
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  5. 5
    Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

    Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations 由 Muriel De La Dure‐Molla, Mickaël Quentric, Paulo Yamaguti, Ana-Carolina Acevedo, Alan J. Mighell, Miikka Vikkula, Mathilde Huckert, Ariane Berdal, Agnès Bloch‐Zupan

    出版 2014
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  6. 6
    SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

    SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma 由 Cheryl Y. Gregory‐Evans, Mariya Moosajee, Matt Hodges, Donna S. Mackay, Laurence Gamé, Neil Vargesson, Agnès Bloch‐Zupan, Franz Rüschendorf, Lourdes Santos‐Pinto, G Wackens, Kevin Gregory‐Evans

    出版 2007
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  7. 7
    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects 由 Agnès Bloch‐Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strähle, Corinne Stoetzel, Hélène Dollfus

    出版 2011
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  8. 8
    Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

    Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta 由 David Parry, Alan J. Mighell, Walid El‐Sayed, Richard F. Shore, I K Jalili, Hélène Dollfus, Agnès Bloch‐Zupan, Román Carlos, Ian Carr, Louise Downey, Katharine M. Blain, David Mansfield, Mehdi Shahrabi, Mansour Heidari, Parissa Aref, Mohsen Abbasi, Michel Michaelides, Anthony T. Moore, Jennifer Kirkham, Chris F. Inglehearn

    出版 2009
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  9. 9
    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia 由 Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith C. Schneider, John A. Follit, Johannes C. Hermann, Tim J. M. Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen W. Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnès Bloch‐Zupan, Gen Nishimura, Andrea Superti‐Furga, Martin Lowe, Ekkehart Lausch

    出版 2019
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  10. 10
    Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

    Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders 由 Muriel De La Dure‐Molla, Benjamin Fournier, María Cristina Manzanares‐Céspedes, Ana Carolina Acevedo, Raoul C. M. Hennekam, Lisa Friedlander, Marie‐Laure Boy‐Lefèvre, Stéphane Kerner, Steve Toupenay, Pascal Garrec, Brigite Vi‐Fane, Rufino Felizardo, Marie‐Violaine Berteretche, L. Jordan, F. Ferré, François Clauss, Sophie Jung, Myriam de Chalendar, Sebastien Troester, Marzena Kawczynski, Jessica Chaloyard, M.C. Manière, Ariane Berdal, Agnès Bloch‐Zupan

    出版 2019
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  11. 11
    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification 由 Agnès Bloch‐Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Muriel De La Dure‐Molla, Emmanuelle Noirrit‐Esclassan, Magali Hernandez, Clara Joseph-Beaudin, Séréna Lopez-Cazaux, C Tardieu, Béatrice Thivichon‐Prince, Taťjana Dostálová, Milan Maçek, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter

    出版 2023
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  12. 12
    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta 由 Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Véronique Geoffroy, Jean Muller, François Clauss, Megana Prasad, Frédéric Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, S. Soskin, Éric Mathieu, Joseph Hemmerlé, Jean‐Luc Weickert, Branka Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie‐Claude Cholette, Ross McLeod, Reynaldo Antequera, Marie-Paule Gellé, Jean-Louis Coeuriot, L. F. Jacquelin, Isabelle Bailleul‐Forestier, Marie‐Cécile Manière, Wim Van Hul, Débora Romeo Bertola, Pascal Dollé, Alain Verloès, Geert Mortier, Hélène Dollfus, Agnès Bloch‐Zupan

    出版 2015
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  13. 13
    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome

    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome 由 Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin–Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus

    出版 2009
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  14. 14
    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement 由 Megana Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, D Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller‐Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean‐Luc Davideau, Tiphaine Davit‐Béal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean‐Pierre Duprez, Sylvie Odent, Isabelle Bailleul‐Forestier, M. Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, S. Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel De La Dure‐Molla, Yves Alembik, C Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, M.C. Manière, Hélène Dollfus, Agnès Bloch‐Zupan

    出版 2015
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  15. 15
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement 由 Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    出版 2024
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  16. 16
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations 由 Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

    出版 2013
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