Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family rais...

por Goussot, Raphaëlle, Prasad, Megana, Stoetzel, Corinne, Lenormand, Cédric, Dollfus, Hélène, Lipsker, Dan
Publicado 2017

Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?

por Gelzinis, Arvydas, Simonaviciute, Dovile, Krucaite, Agne, Buzzonetti, Luca, Dollfus, Hélène, Zemaitiene, Reda
Publicado 2022

Hydroxychloroquine hitting the headlines—retinal considerations

por Downes, Susan M., Leroy, Bart P., Sharma, Srilakshmi M., Sivaprasad, Sobha, Dollfus, Hélène
Publicado 2020

An ontological foundation for ocular phenotypes and rare eye diseases

por Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène
Publicado 2019

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases

por Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène
Publicado 2019

Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet–Biedl Syndrome

por Dormegny, Léa, Velizarova, Reana, Schroder, Carmen M, Kilic-Huck, Ulker, Comtet, Henri, Dollfus, Hélène, Bourgin, Patrice, Ruppert, Elisabeth
Publicado 2021

A possible cranio-oro-facial phenotype in Cockayne syndrome

por Bloch-Zupan, Agnès, Rousseaux, Morgan, Laugel, Virginie, Schmittbuhl, Matthieu, Mathis, Rémy, Desforges, Emmanuelle, Koob, Mériam, Zaloszyc, Ariane, Dollfus, Hélène, Laugel, Vincent
Publicado 2013

European Reference Networks: challenges and opportunities

por Tumiene, Birute, Graessner, Holm, Mathijssen, Irene MJ, Pereira, Alberto M, Schaefer, Franz, Scarpa, Maurizio, Blay, Jean-Yves, Dollfus, Helene, Hoogerbrugge, Nicoline
Publicado 2021

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

por Schaefer, Elise, Delvallée, Clarisse, Mary, Laura, Stoetzel, Corinne, Geoffroy, Véronique, Marks-Delesalle, Caroline, Holder-Espinasse, Muriel, Ghoumid, Jamal, Dollfus, Hélène, Muller, Jean
Publicado 2019

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

por Mauring, Laura, Porter, Louise Frances, Pelletier, Valerie, Riehm, Axelle, Leuvrey, Anne-Sophie, Gouronc, Aurélie, Studer, Fouzia, Stoetzel, Corinne, Dollfus, Helene, Muller, Jean
Publicado 2020

Reproduction Function in Male Patients With Bardet Biedl Syndrome

por Koscinski, Isabelle, Mark, Manuel, Messaddeq, Nadia, Braun, Jean Jacques, Celebi, Catherine, Muller, Jean, Zinetti-Bertschy, Anna, Goetz, Nathalie, Dollfus, Hélène, Rossignol, Sylvie
Publicado 2020

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

por Geoffroy, Véronique, Guignard, Thomas, Kress, Arnaud, Gaillard, Jean-Baptiste, Solli-Nowlan, Tor, Schalk, Audrey, Gatinois, Vincent, Dollfus, Hélène, Scheidecker, Sophie, Muller, Jean
Publicado 2021

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

por Nevers, Yannis, Prasad, Megana K., Poidevin, Laetitia, Chennen, Kirsley, Allot, Alexis, Kress, Arnaud, Ripp, Raymond, Thompson, Julie D., Dollfus, Hélène, Poch, Olivier, Lecompte, Odile
Publicado 2017

ODP606 Long-term Efficacy of Setmelanotide in Patients With Bardet-Biedl Syndrome

por Argente, Jesús, Beales, Philip, Clément, Karine, Dollfus, Hélène, Forsythe, Elizabeth, Haqq, Andrea, Haws, Robert, Martos-Moreno, Gabriel, Mittleman, Robert, Yanovski, Jack, Yuan, Guojun, Chung, Wendy
Publicado 2022

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

por Cognard, Noëlle, Scerbo, Maria J, Obringer, Cathy, Yu, Xiangxiang, Costa, Fanny, Haser, Elodie, Le, Dane, Stoetzel, Corinne, Roux, Michel J, Moulin, Bruno, Dollfus, Hélène, Marion, Vincent
Publicado 2015

Characterization of SSBP1-related optic atrophy and foveopathy

por Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, Lenaers, Guy
Publicado 2021

A Phase 3 Trial in Participants With Obesity Due to Bardet-Biedl Syndrome or Alström Syndrome: Efficacy and Safety of the Melanocortin 4 Receptor Agonist Setmelanotide

por Haws, Robert, Clément, Karine, Dollfus, Hélène, Han, Joan C, Haqq, Andrea Maria, Martos-Moreno, Gabriel Angel, Mittleman, Robert, Stewart, Murray, Webster, Matt, Yanovski, Jack, Yuan, Guojun, Argente, Jesús
Publicado 2021

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

por Laugel-Haushalter, Virginie, Morkmued, Supawich, Stoetzel, Corinne, Geoffroy, Véronique, Muller, Jean, Boland, Anne, Deleuze, Jean-François, Chennen, Kirsley, Pitiphat, Waranuch, Dollfus, Hélène, Niederreither, Karen, Bloch-Zupan, Agnès, Pungchanchaikul, Patimaporn
Publicado 2018

Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice

por Bassetto, Marco, Ajoy, Daniel, Poulhes, Florent, Obringer, Cathy, Walter, Aurelie, Messadeq, Nadia, Sadeghi, Amir, Puranen, Jooseppi, Ruponen, Marika, Kettunen, Mikko, Toropainen, Elisa, Urtti, Arto, Dollfus, Hélène, Zelphati, Olivier, Marion, Vincent
Publicado 2021

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

por Forsythe, Elizabeth, Haws, Robert M., Argente, Jesús, Beales, Philip, Martos-Moreno, Gabriel Á., Dollfus, Hélène, Chirila, Costel, Gnanasakthy, Ari, Buckley, Brieana C., Mallya, Usha G., Clément, Karine, Haqq, Andrea M.
Publicado 2023