The European Union Policy in the Field of Rare Diseases

Autor: Antoni Montserrat, Moliner, Jaroslaw, Waligora

Publikováno v: Advances in experimental medicine and biology. 1031

Rare diseases, are defined by the European Union as life-threatening or chronically debilitating diseases with low prevalence (less than 5 per 10,000). The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::304cc461cafbb3235ae3bee6565f3d0a
https://pubmed.ncbi.nlm.nih.gov/29214592

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Autor: Richard J.H. Smith, Alessandra Murgia, István Sziklai, Pierangela Castorina, Małgorzata Mueller-Malesińska, Nele Hilgert, Ewa Nowakowska, Graça Fialho, Alessandro Martini, Erdmute Kunstmann, Ignacio del Castillo, Lut Van Laer, Felipe Moreno, Doris Nekahm-Heis, Cyril Goizet, Carla Nishimura, Guy Van Camp, Elena Mennucci, Agata Skórka, Stephen Vlaeminck, Paul Van de Heyning, Mustafa Tekin, Michael B. Petersen, Ashley Q. Thorburn, Virginia W. Norris, Petr Janoušek, Anne Françoise Roux, Jerzy Bal, Nele Dieltjens, Guenaëlle Lancelot, Delphine Feldmann, Tímea Tóth, Pavel Seeman, Andreas R. Janecke, Eva Orzan, Jaroslaw Waligora, Karianne Hostmark, Matthew J. Huentelman, Klemens Frei, Ingeborg Dhooge, Catherine Blanchet, Paul J. Govaerts, Vasiliki Vivian Iliadou, Erik Fransen, Umberto Ambrosetti, Karen Grønskov, Agnieszka Pollak, Kathleen S. Arnos, Françoise Denoyelle, Paola Primignani, Armagan Incesulu, Ouyang Xiaomei, Rafał Płoski, Sandrine Marlin, Arti Pandya, Xue Zhong Liu, Helena Caria

Publikováno v: European journal of immunogenetics

Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa90443768531eb313131f5514fb942
https://doi.org/10.1038/ejhg.2008.201

GJB2 mutations and degree of hearing loss: a multicenter study

Autor: Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin

Publikováno v: American Journal of Human Genetics, 77, 945-57
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics

Contains fulltext : 47828.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b088a403539b4866dcf8e41df96427b
https://pubmed.ncbi.nlm.nih.gov/16380907