The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008).

Autor: van Rij, MC, de Koning Gans, PAM, van Belzen, MJ, Roos, RAC, Geraedts, JPM, De Rademaeker, M, Bijlsma, EK, de Die‐Smulders, CEM

Publikováno v: Clinical Genetics; Jan2014, Vol. 85 Issue 1, p87-95, 9p

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.

Autor: van der Werf't Lam AS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Helderman NC; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Boot A; Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands., Terlouw D; Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands., Morreau H; Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands., Mei H; Sequencing Analysis Support Core, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands., Esveldt-van Lange REE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Lakeman IMM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Hofland N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., de Koning Gans PAM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Rayner E; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Tops C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., de Wind N; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Wezel T; Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: m.nielsen@lumc.nl.

Publikováno v: Experimental and molecular pathology [Exp Mol Pathol] 2024 Dec; Vol. 140, pp. 104940. Date of Electronic Publication: 2024 Oct 21.

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.