DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Autor: Lavillaureix A; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France., Rollier P; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France., Kim A; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA., Panasenkava V; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France., De Tayrac M; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France., Carré W; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France., Guyodo H; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France., Faoucher M; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France., Poirel E; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France., Akloul L; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France., Quélin C; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France., Whalen S; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Bos J; Department of Human Genetics, Section Clinical Genetic, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Broekema M; Department of Human Genetics, Section Clinical Genetic, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van Hagen JM; Department of Human Genetics, Section Clinical Genetic, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA., Allen-Sharpley M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA., Magness E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., McLean SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Division of Clinical Genetics, Christus Children's, San Antonio, TX., Kayserili H; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey., Altunoglu U; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey., En Qi Chong A; Department of Biological Sciences, National University of Singapore, Singapore, Singapore., Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore., Jeanne M; Service de Génétique, FHU GenOMedS, CHRU de Tours, Tours, France; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Almontashiri N; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia., Habhab W; Department of Genetic Medicine, Faculty of Medicine, Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Vanlerberghe C; CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France; Genetics of Developmental Disorders, INSERM UMR1231, Université de Bourgogne, Dijon, France., Viora-Dupont E; Genetics of Developmental Disorders, INSERM UMR1231, Université de Bourgogne, Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France., Philippe C; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon, Dijon, France., Safraou H; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon, Dijon, France., Laffargue F; CHU Clermont Ferrand, Service de Génétique Clinique, Clermont Ferrand, France., Mittendorf L; Department for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, Leipzig, Germany., Patil SJ; Division of Genetics, Narayana Hrudayalaya Hospitals/Mazumdar Shaw Medical Centre, Bangalore, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Keren B; APHP, Sorbonne Université, Département de Génétique Médicale, GH Pitié Salpêtrière, Paris, France., Reversade B; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A∗STAR, Department of Physiology, Cardiovascular Disease, Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey; Laboratory of Human Genetics and Therapeutics Smart-Health Initiative, BESE, KAUST, Thuwal, Kingdom of Saudi Arabia., Dubourg C; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France., Odent S; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France., Dupé V; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France. Electronic address: valerie.dupe@univ-rennes.fr.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101126. Date of Electronic Publication: 2024 Mar 24.

Therapeutic Potential of a Small-Molecule STAT3 Inhibitor in a Mouse Model of Colitis.

Autor: Robinson P; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Montoya K; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Magness E; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Rodriguez E; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Villalobos V; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Engineer N; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Yang P; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Bharadwaj U; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Eckols TK; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA., Tweardy DJ; Department of Infectious Diseases, Infection Control & Employee Health, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA.; Department of Molecular & Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA.

Publikováno v: Cancers [Cancers (Basel)] 2023 May 30; Vol. 15 (11). Date of Electronic Publication: 2023 May 30.

Characterization of genetic counselor practices in inpatient care settings.

Autor: Magness E; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Moscarello T; Stanford Center for Inherited Cardiovascular Disease, Stanford, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA., Ma D; Smidt Heart Institute Cedars Sinai Medical Center, Los Angeles, CA, USA., Helm BM; Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Epidemiology, Indiana University Fairbanks School of Public Health, Indianapolis, IN, USA., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2021 Aug; Vol. 30 (4), pp. 1181-1190. Date of Electronic Publication: 2021 Mar 13.

U know them by their fruit: unfinalizing the ‘extreme other self’ in documentary filmmaking

Autor: Magness, E Shannon

My research explores the documentary encounter between the filmmaker and a\ud familial subject who is also politically opposite to me, or what I term an\ud ‘extreme other’. The Thesis consists of a one-hour film and a forty thousand\ud word criti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6e4a0daea66cb8e6a0d39dc6f4bbcbc8
http://sro.sussex.ac.uk/id/eprint/45893/1/Magness,_E._Shannon.pdf

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