YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.

Autor: Pereira MF; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Finazzi V; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Rizzuti L; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Aprile D; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Aiello V; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Mollica L; Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy., Riva M; Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy., Soriani C; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Dossena F; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Shyti R; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Castaldi D; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Tenderini E; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Carminho-Rodrigues MT; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Bally JF; Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital & University of Lausanne, Lausanne, Switzerland., de Vries BBA; Radboud University UMC, Nijmegen, The Netherlands., Gabriele M; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Department of Biological Engineering, Massachusetts Institute of Technology; Cambridge, MA 02139, USA.; The Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA.; Koch Institute for Integrative Cancer Research; Cambridge, MA, 02139, USA., Vitriolo A; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy., Testa G; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy.; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Feb 17. Date of Electronic Publication: 2024 Feb 17.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Autor: Van Heurck R; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Carminho-Rodrigues MT; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Ranza E; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Stafuzza C; Ear-Nose-Throat/Head and Neck Surgery Division, Geneva University Hospitals, 1205 Geneva, Switzerland., Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Gehrig C; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Hammar E; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Guipponi M; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Abramowicz M; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Senn P; Ear-Nose-Throat/Head and Neck Surgery Division, Geneva University Hospitals, 1205 Geneva, Switzerland., Guinand N; Ear-Nose-Throat/Head and Neck Surgery Division, Geneva University Hospitals, 1205 Geneva, Switzerland., Cao-Van H; Ear-Nose-Throat/Head and Neck Surgery Division, Geneva University Hospitals, 1205 Geneva, Switzerland., Paoloni-Giacobino A; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland.

Publikováno v: Genes [Genes (Basel)] 2021 Aug 20; Vol. 12 (8). Date of Electronic Publication: 2021 Aug 20.

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

Autor: Carminho-Rodrigues MT; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Steel D; Departement of Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal., Brandt G; Neurologische Klinik, Klinik und Poliklinik des Universitätsklinikums Würzburg, Würzburg, Germany., Guipponi M; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Laurent S; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Fokstuen S; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Moren A; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Zacharia A; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Dirren E; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Oliveira R; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; Medical Genetics Unit, Centro Hospitalar e Universitário de São João, Porto, Portugal., Kurian MA; Departement of Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Burkhard PR; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland., Bally JF; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2129-2132. Date of Electronic Publication: 2020 Jul 06.