Search Results - Helene Dollfus

  • Showing 1 - 16 results of 16
Refine Results
  1. 1

    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation by Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller

    Published in Frontiers in Genetics (2020-08-01)
    Get full text
    Article


  2. 2

    Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome? by Arvydas Gelzinis, Dovile Simonaviciute, Agne Krucaite, Luca Buzzonetti, Hélène Dollfus, Reda Zemaitiene

    Published in Medicina (2022-05-01)
    Get full text
    Article


  3. 3

    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome by Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller

    Published in Frontiers in Genetics (2019-01-01)
    Get full text
    Article


  4. 4

    Response to comment on: Could internal limiting membrane peeling before Voretigen Neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy? by Lea Dormegny, Fouzia Studer, Arnaud Sauer, Laurent Ballonzoli, Claude Speeg-Schatz, Tristan Bourcier, Helene Dollfus, David Gaucher

    Published in Heliyon (2024-10-01)
    Get full text
    Article


  5. 5

    Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy? by Lea Dormegny, Fouzia Studer, Arnaud Sauer, Laurent Ballonzoli, Claude Speeg-Schatz, Tristan Bourcier, Helene Dollfus, David Gaucher

    Published in Heliyon (2024-02-01)
    Get full text
    Article


  6. 6

    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning by Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul

    Published in Frontiers in Physiology (2018-09-01)
    Get full text
    Article


  7. 7

    Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family rais... by Raphaëlle Goussot, MD, Megana Prasad, MD, Corinne Stoetzel, MD, Cédric Lenormand, MD, PhD, Hélène Dollfus, MD, PhD, Dan Lipsker, MD, PhD

    Published in JAAD Case Reports (2017-03-01)
    Get full text
    Article


  8. 8

    Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results by Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq

    Published in Orphanet Journal of Rare Diseases (2023-01-01)
    Get full text
    Article


  9. 9

    Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice by Marco Bassetto, Daniel Ajoy, Florent Poulhes, Cathy Obringer, Aurelie Walter, Nadia Messadeq, Amir Sadeghi, Jooseppi Puranen, Marika Ruponen, Mikko Kettunen, Elisa Toropainen, Arto Urtti, Hélène Dollfus, Olivier Zelphati, Vincent Marion

    Published in Pharmaceutics (2021-10-01)
    Get full text
    Article


  10. 10

    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement by Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group

    Published in Orphanet Journal of Rare Diseases (2021-03-01)
    Get full text
    Article


  11. 11

    Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. by Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli

    Published in PLoS ONE (2012-01-01)
    Get full text
    Article


  12. 12

    Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

    Published in EMBO Molecular Medicine (2020-06-01)
    Get full text
    Article


  13. 13

    COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management by Diana Tambala, Rachel Vassar, John Snow, Simona Balestrini, Anna Bersano, Stéphanie Guey, Eleonora Bonaventura, Sabrina Signorini, Stefano Sartori, Enrico Bertini, Davide Tonduti, Cecilia Parazzini, Marina Macchiaiolo, Maria Federica Pelizza, Anna Pichiecchio, Laura Massella, Thibault Coste, Simona Orcesi, Davide Politano, Giacomo Bacci, Elisa Marziali, Helene Dollfus, Anna Mandelli, Marcello Chinali, Emmanuelle Plaisier, Paolo Simioni, Raffaella Colombati, Renzo Guerrini, Elisabeth Tournier-Lasserve, Douglas B. Gould, Patricia L. Musolino

    Published in Proceedings (2025-07-01)
    Get full text
    Article


  14. 14

    Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. by Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick

    Published in PLoS ONE (2016-01-01)
    Get full text
    Article


  15. 15

    Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study by Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, David Geneviève, Bertrand Isidor, Alice Goldenberg, Caroline Guégan, Gaëtan Lesca, Marjolaine Willems, Clothilde Ormières, Roseline Caumes, Tiffany Busa, Dominique Bonneau, Anne-Marie Guerrot, Isabelle Marey, Gabriella Vera, Pauline Marzin, Anaïs Philippe, Aurore Garde, Christine Coubes, Marie Vincent, Vincent Michaud, Cyril Mignot, Perrine Charles, Sabine Sigaudy, Patrick Edery, Didier Lacombe, Anne Boland, Frédérique Nowak, Marion Bouctot, Marie-Laure Humbert-Asensio, Alban Simon, Kirsley Chennen, Niki Sabour, Christelle Delmas, Gaël Nicolas, Pascale Saugier-Veber, François Lecoquierre, Kévin Cassinari, Boris Keren, Thomas Courtin, Jean-Madeleine De Sainte Agathe, Valérie Malan, Giulia Barcia, Frédéric Tran Mau-Them, Hana Safraou, Christophe Philippe, Julien Thévenon, Nicolas Chatron, Louis Januel, Amélie Piton, Virginie Haushalter, Bénédicte Gérard, Catherine Lejeune, Laurence Faivre, Damien Sanlaville, Delphine Héron, Sylvie Odent, Patrick Nitschké, Caroline Schluth-Bolard, Stanislas Lyonnet, Jean-François Deleuze, Christine Binquet, Hélène Dollfus, DEFIDIAG study group

    Published in Genome Medicine (2025-10-01)
    Get full text
    Article


  16. 16

    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification by Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Tristan Rey, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Magali Hernandez, Mathilde Huckert, Bertand Isidor, Clara Joseph-Beaudin, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Serena Lopez, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Emmanuelle Noirrit, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Corinne Tardieu, Béatrice Thivichon-Prince, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

    Published in Frontiers in Physiology (2023-05-01)
    Get full text
    Article


Search Tools: