Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Nele Dieltjens"'
Autor:
Ruth, Daniels, Wim, Van der Elst, Nele, Dieltjens, Tinne, Appels, Chi K, So, Thomas, Nys, Liesbeth, Voeten, Philip, Breugelmans, Marijke W A, Molenaar-de Backer, Eelo, Gitz, Stephen, Poole, Mehul, Patel
Publikováno v:
ALTEX.
Pharmaceutical products intended for parenteral use must be free from pyrogenic (fever-inducing) contamination. Pyrogens comprise endotoxins from Gram-negative bacteria and non-endotoxin pyrogens from Gram-positive bacteria, viruses, and fungi. The l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2285c90ce7a9670533d046a5cd1a1f
https://doi.org/10.14573/altex.2111301
https://doi.org/10.14573/altex.2111301
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
https://doi.org/10.1038/ejhg.2008.201
Autor:
J. D. Favero, D. Goossens, Dominique Weil, Tao Yang, Barbara Pawlik, Sedigheh Delmaghani, Bernd Wollnik, Oya Uyguner, E. Pandelia, Nele Hilgert, Fatemeh Alasti, Richard J.H. Smith, Michael B. Petersen, G. Van Camp, Nele Dieltjens, E. Danis, Christine Petit, Mohammad Hossein Sanati
Publikováno v:
Clinical genetics
Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa527e5bd81caca40659434028ac986
https://doi.org/10.1111/j.1399-0004.2008.01053.x
https://doi.org/10.1111/j.1399-0004.2008.01053.x
Autor:
Kathleen Vanderstraeten, Emna Mnif, Melissa Thys, Insaf Bel Hadj Ali, Nele Dieltjens, Guy Van Camp, Saïda ben Arab, Ghazi Besbes, Najeh Beltaief, Isabelle Schrauwen, S. Hachicha
Publikováno v:
American journal of medical genetics : part A
Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e7b050ed34b551a04f7782f8fbedc2
https://doi.org/10.1002/ajmg.a.31806
https://doi.org/10.1002/ajmg.a.31806
Autor:
Ingeborg Dhooge, Thomas Somers, Robert Vincent, Wenjie Chen, Cor R W J Cremers, Mireille Claustres, Richard J.H. Smith, Frank Declau, Kathleen Vanderstraeten, Melissa Thys, Paul Van de Heyning, Isabelle Schrauwen, Megan Ealy, Guy Van Camp, Katrien Janssens, Erik Fransen, J. Claes, Erwin Offeciers, Kris Van Den Bogaert, Nele Dieltjens
Publikováno v:
Human Molecular Genetics, 16, 17, pp. 2021-30
Human Molecular Genetics, 16, 2021-30
Human molecular genetics
Human Molecular Genetics, 16, 2021-30
Human molecular genetics
Contains fulltext : 36578.pdf (Publisher’s version ) (Closed access) Otosclerosis is a progressive hearing loss characterized by an abnormal bone homeostasis of the otic capsule that leads to stapes fixation. Although its etiology remains unknown,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd879cecf6a1126ce64ce48d878a15b
https://doi.org/10.1093/hmg/ddm150
https://doi.org/10.1093/hmg/ddm150
Autor:
Melissa Thys, Richard J.H. Smith, Maria Grigoriadou, Guy Van Camp, Michael B. Petersen, Nele Dieltjens, Robert J. Pauw, Cor R W J Cremers, Kris Van Den Bogaert, Vassiliki Iliadou, Isabelle Schrauwen, Wenjie Chen, Kathleen Vanderstraeten, Nikolaos Eleftheriades
Publikováno v:
European Journal of Human Genetics, 15, 3, pp. 362-8
European Journal of Human Genetics, 15, 362-8
European journal of human genetics
European Journal of Human Genetics, 15, 362-8
European journal of human genetics
Contains fulltext : 35228.pdf (Publisher’s version ) (Closed access) Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3-0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d1e77f9051da7ee0c127d6bb489e60b
https://doi.org/10.1038/sj.ejhg.5201761
https://doi.org/10.1038/sj.ejhg.5201761
Autor:
G. Van Camp, Nele Dieltjens, Richard J.H. Smith, Nele Hilgert, Hossein Najmabadi, Niloofar Bazazzadegan, Kimia Kahrizi
Publikováno v:
Journal of medical genetics
Background: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6960ec20e5bf2d6a29d56589bc5b97ea
https://europepmc.org/articles/PMC4432478/
https://europepmc.org/articles/PMC4432478/
Autor:
Kathleen Vanderstraeten, Melissa Thys, Robert Vincent, Erik Fransen, Megan Ealy, P. Van de Heyning, Isabelle Schrauwen, G. Van Camp, E.E. Offeciers, Nele Dieltjens, Richard J.H. Smith, C.W.R.J. Cremers
Publikováno v:
Annals of Human Genetics, 73, 171-5
Annals of Human Genetics, 73, 2, pp. 171-5
Annals of human genetics
Annals of Human Genetics, 73, 2, pp. 171-5
Annals of human genetics
Contains fulltext : 80260.pdf (Publisher’s version ) (Closed access) Otosclerosis is one of the most common forms of hearing loss in the European population. We have identified a SNP in the TGFB1 (transforming growth factor beta 1) gene that is ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286ca1604db1a1547f42c2279646eedb
http://hdl.handle.net/2066/80260
http://hdl.handle.net/2066/80260
Autor:
Nele Dieltjens, Kathleen Vanderstraeten, Emna Mnif, Saida Ben Arab, Nele Hilgert, Guy Van Camp, Isabelle Schrauwen, Ghazi Besbes, S. Hachicha, Melissa Thys, Najeh Beltaief, Insaf Bel Hadj Ali
Publikováno v:
Human genetics
Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3-0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4123d06f552a35a0d66a88d72956dcd
https://pubmed.ncbi.nlm.nih.gov/18224337
https://pubmed.ncbi.nlm.nih.gov/18224337
Autor:
Robert Vincent, Melissa Thys, Kathleen Vanderstraeten, Megan Ealy, Frank Declau, Guy Van Camp, Erik Fransen, Cor R W J Cremers, Erwin Offeciers, Isabelle Schrauwen, Jeroen R. Huyghe, Mireille Claustres, Paul Van de Heyning, Thomas Somers, Richard J.H. Smith, Ingeborg Dhooge, Nele Dieltjens
Publikováno v:
Journal of bone and mineral research
We studied the role of polymorphisms in 13 candidate genes on the risk of otosclerosis in two large independent case-control sets. We found significant association in both populations with BMP2 and BMP4, implicating these two genes in the pathogenesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7727a38b7629588c2af0c7f0ee1e17f5
https://pubmed.ncbi.nlm.nih.gov/18021008
https://pubmed.ncbi.nlm.nih.gov/18021008