Hakutulokset - Dollfus, Helene

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

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

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Hydroxychloroquine hitting the headlines—retinal considerations Tekijä Downes, Susan M., Leroy, Bart P., Sharma, Srilakshmi M., Sivaprasad, Sobha, Dollfus, Hélène

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome Tekijä Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège

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An ontological foundation for ocular phenotypes and rare eye diseases Tekijä Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène

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Correction to: An ontological foundation for ocular phenotypes and rare eye diseases Tekijä Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène

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Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet–Biedl Syndrome Tekijä Dormegny, Léa, Velizarova, Reana, Schroder, Carmen M, Kilic-Huck, Ulker, Comtet, Henri, Dollfus, Hélène, Bourgin, Patrice, Ruppert, Elisabeth

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Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability Tekijä Mockel, Anais, Obringer, Cathy, Hakvoort, Theodorus B. M., Seeliger, Mathias, Lamers, Wouter H., Stoetzel, Corinne, Dollfus, Hélène, Marion, Vincent

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation Tekijä Marion, Vincent, Stoetzel, Corinne, Schlicht, Dominique, Messaddeq, Nadia, Koch, Michael, Flori, Elisabeth, Danse, Jean Marc, Mandel, Jean-Louis, Dollfus, Hélène

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A possible cranio-oro-facial phenotype in Cockayne syndrome Tekijä Bloch-Zupan, Agnès, Rousseaux, Morgan, Laugel, Virginie, Schmittbuhl, Matthieu, Mathis, Rémy, Desforges, Emmanuelle, Koob, Mériam, Zaloszyc, Ariane, Dollfus, Hélène, Laugel, Vincent

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European Reference Networks: challenges and opportunities Tekijä Tumiene, Birute, Graessner, Holm, Mathijssen, Irene MJ, Pereira, Alberto M, Schaefer, Franz, Scarpa, Maurizio, Blay, Jean-Yves, Dollfus, Helene, Hoogerbrugge, Nicoline

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

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

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Reproduction Function in Male Patients With Bardet Biedl Syndrome Tekijä Koscinski, Isabelle, Mark, Manuel, Messaddeq, Nadia, Braun, Jean Jacques, Celebi, Catherine, Muller, Jean, Zinetti-Bertschy, Anna, Goetz, Nathalie, Dollfus, Hélène, Rossignol, Sylvie

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AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis Tekijä Geoffroy, Véronique, Guignard, Thomas, Kress, Arnaud, Gaillard, Jean-Baptiste, Solli-Nowlan, Tor, Schalk, Audrey, Gatinois, Vincent, Dollfus, Hélène, Scheidecker, Sophie, Muller, Jean

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Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort Tekijä Imhoff, Olivier, Marion, Vincent, Stoetzel, Corinne, Durand, Myriam, Holder, Muriel, Sigaudy, Sabine, Sarda, Pierre, Hamel, Christian P., Brandt, Christian, Dollfus, Hélène, Moulin, Bruno

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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome Tekijä Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès

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Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis Tekijä Perrault, Isabelle, Hanein, Sylvain, Gerber, Sylvie, Barbet, Fabienne, Ducroq, Dominique, Dollfus, Helene, Hamel, Christian, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel

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Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling Tekijä Nevers, Yannis, Prasad, Megana K., Poidevin, Laetitia, Chennen, Kirsley, Allot, Alexis, Kress, Arnaud, Ripp, Raymond, Thompson, Julie D., Dollfus, Hélène, Poch, Olivier, Lecompte, Odile

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ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome Tekijä Dagoneau, Nathalie, Benoist-Lasselin, Catherine, Huber, Céline, Faivre, Laurence, Mégarbané, André, Alswaid, Abdulrahman, Dollfus, Hélène, Alembik, Yves, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie

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