A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

Autor: Mul K; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: karlien.mul@radboudumc.nl., Schouten MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: meyke.schouten@radboudumc.nl., van der Looij E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: erica.vanderlooij@radboudumc.nl., Dooijes D; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands. Electronic address: d.dooijes@umcutrecht.nl., Hennekam FAM; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands. Electronic address: f.a.m.hennekam@umcutrecht.nl., Notermans NC; Department of Neurology, Utrecht University Medical Center, Utrecht, the Netherlands. Electronic address: n.c.notermans@umcutrecht.nl., Praamstra P; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: peter.praamstra@radboudumc.nl., van Gaalen J; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: judith.vangaalen@radboudumc.nl., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Erik-Jan.Kamsteeg@radboudumc.nl., Verbeek NE; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands. Electronic address: n.verbeek@umcutrecht.nl., van de Warrenburg BPC; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: bart.vandewarrenburg@radboudumc.nl.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2020 Nov; Vol. 80, pp. 98-101. Date of Electronic Publication: 2020 Sep 12.

Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers.

Autor: Miolo, Gianmaria¹ (AUTHOR) abuonadonna@cro.it, Marus, Wally² (AUTHOR) wally.marus@asfo.sanita.fvg.it, Buonadonna, Angela¹ (AUTHOR) luciadaros@cro.it, Da Ros, Lucia¹ (AUTHOR), Della Puppa, Lara³ (AUTHOR) ldellapuppa@cro.it, Corona, Giuseppe⁴ (AUTHOR) giuseppe.corona@cro.it

Publikováno v: Diagnostics (2075-4418). May2024, Vol. 14 Issue 9, p888. 8p.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.

Autor: Hahn MM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Vreede L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bemelmans SA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van der Looij E; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Kessel AG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Schackert HK; Department of Surgical Research, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Ligtenberg MJ; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Kuiper RP; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Voer RM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Richarda.deVoer@radboudumc.nl.

Publikováno v: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2016 Nov; Vol. 55 (11), pp. 855-63. Date of Electronic Publication: 2016 Jul 07.

Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer.

Autor: Salemink S; Department of Human Genetics 836, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Dekker N, Kets CM, van der Looij E, van Zelst-Stams WA, Hoogerbrugge N

Publikováno v: Journal of genetic counseling [J Genet Couns] 2013 Feb; Vol. 22 (1), pp. 118-24. Date of Electronic Publication: 2012 Aug 23.