X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre

Autor: de Hoon, B., Splinter, Erik, Eussen, B., Douben, J. C. W., Rentmeester, E., van de Heijning, M., Laven, J. S. E., de Klein, J. E. M. M., Liebelt, J., Gribnau, J.

Publikováno v: Philosophical Transactions: Biological Sciences, 2017 Nov 01. 372(1733), 1-8.

Externí odkaz: https://www.jstor.org/stable/44679439

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Autor: Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands. s.frints@mumc.nl.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands. s.frints@mumc.nl., Ozanturk A; Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA., Rodríguez Criado G; Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, 41920, Spain., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany., de Hoon B; Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands.; Department of Gynaecology and Obstetrics, Erasmus University Medical Center, Rotterdam, 3015 CN, The Netherlands., Field M; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, 2298, Australia., Manouvrier-Hanu S; Clinique de Génétique médicale Guy Fontaine, Centre de référence maladies rares Anomalies du développement Hôpital Jeanne de Flandre, Lille, 59000, France.; EA 7364 RADEME Maladies Rares du Développement et du Métabolisme, Faculté de Médecine, Université de Lille, Lille, 59000, France., E Hickey S; Division of Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA., Kammoun M; Center for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium., Gripp KW; Alfred I. duPont Hospital for Children Nemours, Wilmington, DE, 19803, USA., Bauer C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany., Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany., Toutain A; Service de Génétique, Hôpital Bretonneau, CHU de Tours, Tours, 37044, France.; UMR 1253, iBrain, Université de Tours, Inserm, Tours, 37032, France., Mihalic Mosher T; Division of Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA., Kelly BJ; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA., White P; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany., Rentmeester E; Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands., Moon S; Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA., Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA., van Roozendaal KEP; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands., Hu H; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany., Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany., Ropers HH; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany., Murray L; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, 2298, Australia., Haan E; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA, 5006, Australia., Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia., Carroll R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, 5006, Australia., Liebelt J; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA, 5006, Australia., Hobson L; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, 5006, Australia., De Rademaeker M; Centre for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), UZ Brussel, 1090, Brussels, Belgium., Geraedts J; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands., Fryns JP; Center for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium., Vermeesch J; Center for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium., Raynaud M; Service de Génétique, Hôpital Bretonneau, CHU de Tours, Tours, 37044, France.; UMR 1253, iBrain, Université de Tours, Inserm, Tours, 37032, France., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany., Gribnau J; Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands., Katsanis N; Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium., Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia., Golzio C; Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Department of Translational Medicine and Neurogenetics; Centre National de la Recherche Scientifique, UMR7104; Institut National de la Santé et de la Recherche Médicale, U964, Université de Strasbourg, 67400, Illkirch, France., Gontan C; Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany. kalscheu@molgen.mpg.de.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2019 Nov; Vol. 24 (11), pp. 1748-1768. Date of Electronic Publication: 2018 May 04.

X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre.

Autor: de Hoon B; Department of Developmental Biology, Rotterdam, The Netherlands., Splinter E; Cergentis B.V., Utrecht, The Netherlands., Eussen B; Department of Clinical Genetics, Rotterdam, The Netherlands., Douben JCW; Department of Clinical Genetics, Rotterdam, The Netherlands., Rentmeester E; Department of Developmental Biology, Rotterdam, The Netherlands., van de Heijning M; Cergentis B.V., Utrecht, The Netherlands., Laven JSE; Department of Obstetrics and Gynaecology, Erasmus MC, Rotterdam, The Netherlands., de Klein JEMM; Department of Clinical Genetics, Rotterdam, The Netherlands., Liebelt J; Division of Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia jan.liebelt@sa.gov.au., Gribnau J; Department of Developmental Biology, Rotterdam, The Netherlands j.gribnau@erasmusmc.nl.

Publikováno v: Philosophical transactions of the Royal Society of London. Series B, Biological sciences [Philos Trans R Soc Lond B Biol Sci] 2017 Nov 05; Vol. 372 (1733).

Precise BAC targeting of genetically polymorphic mouse ES cells.

Autor: Barakat TS; Department of Reproduction and Development, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Rentmeester E, Sleutels F, Grootegoed JA, Gribnau J

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2011 Oct; Vol. 39 (18), pp. e121. Date of Electronic Publication: 2011 Jul 07.

RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation.

Autor: Jonkers I; Department of Reproduction and Development, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands., Barakat TS, Achame EM, Monkhorst K, Kenter A, Rentmeester E, Grosveld F, Grootegoed JA, Gribnau J

Publikováno v: Cell [Cell] 2009 Nov 25; Vol. 139 (5), pp. 999-1011.