Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Autor: Wesdorp M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Koning Gans PAM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Schraders M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Oostrik J; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Beynon AJ; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van Gaalen J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Piai V; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Medical Psychology, Radboud University Medical Center, Nijmegen, The Netherlands., Voermans N; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., van Rossum MM; Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands., Hartel BP; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Lelieveld SH; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wiel L; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Verbist B; Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands., Rotteveel LJ; Department of Otolaryngology, Head and Neck Surgery, LUMC, Leiden, The Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Kunst HPM; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Admiraal RJC; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Yntema HG; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Pennings RJE; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kremer H; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.

Publikováno v: Human genetics [Hum Genet] 2018 May; Vol. 137 (5), pp. 389-400. Date of Electronic Publication: 2018 May 12.

Frequency of Herpes Simplex Virus Types 1 and 2 and Cytomegalovirus in Perilymph and Peripheral Blood Samples of Cochlear-Implanted Children Using the Polymerase Chain Reaction Method.

Autor: Farahani, Farhad¹, Rad, Majid Vafaei¹, Naderifar, Homa¹, Shariatpanahi, Elnaz¹, Najafi-Vosough, Roya², Jalilian, Farid Azizi³ f.jalilian@umsha.ac.ir

Publikováno v: Auditory & Vestibular Research (2423-480X). 2024, Vol. 33 Issue 3, p194-201. 8p.

Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.

Autor: Orriëns, Lynn B.¹ (AUTHOR) Lynn.Orriens@radboudumc.nl, van Hulst, Karen² (AUTHOR), van der Burg, Jan J. W.^3,4 (AUTHOR), van den Hoogen, Frank J. A.⁵ (AUTHOR), Willemsen, Michèl A. A. P.¹ (AUTHOR), Erasmus, Corrie E.¹ (AUTHOR)

Publikováno v: European Journal of Pediatrics. Jan2024, Vol. 183 Issue 1, p83-93. 11p.

Effects of elastic therapeutic taping on reducing drooling in children with neurological disorders: a systematic review of randomized controlled trials.

Autor: Lam, Krystal Tsz Ting, Hung, Alex Tsz Wai, Lau, Kendy, Lee, Eric Kam Pui

Publikováno v: Journal of Neurodevelopmental Disorders; 12/19/2024, Vol. 16 Issue 1, p1-12, 12p

Cytomegalovirus DNA detection in dried blood spots and perilymphatic fluids from pediatric and adult cochlear implant recipients with prelingual deafness.

Autor: de Vries JJ; Department of Medical Microbiology, Leiden University Medical Center, Leiden, The Netherlands. jjcdevries@lumc.nl, Vesseur A, Rotteveel LJ, Korver AM, Rusman LG, Wessels E, Kroes AC, Mylanus EA, Oudesluys-Murphy AM, Frijns JH, Vossen AC

Publikováno v: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology [J Clin Virol] 2013 Feb; Vol. 56 (2), pp. 113-7. Date of Electronic Publication: 2012 Nov 09.