Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Autor: Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Cicekdal MB; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Sorokina E; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, USA., Chassaing N; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France., Clokie S; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Naert T; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.; Institute of Anatomy, University of Zurich, Zurich, Switzerland.; Zurich Kidney Center, University of Zurich, Zurich, Switzerland., Talbot LV; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Muheisen S; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, USA., Bax DA; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Kesim Y; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Centre for Human Genetics, University of Oxford, Old Road Campus, Oxford, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kivuva EC; Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine, Hôpital Jeanne de Flandre, Lille, France., Lienkamp SS; Institute of Anatomy, University of Zurich, Zurich, Switzerland.; Zurich Kidney Center, University of Zurich, Zurich, Switzerland., Plaisancié J; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Centre de Biologie Intégrative (CBI), Centre de Biologie du Développement (CBD), Université de Toulouse, CNRS, UPS, Toulouse, France., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Calvas P; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France., Vleminckx K; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium. kris.vleminckx@irc.ugent.be., Semina EV; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, USA. esemina@mcw.edu., Ragge NK; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, UK. nragge@brookes.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 26; Vol. 15 (1), pp. 9245. Date of Electronic Publication: 2024 Oct 26.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Autor: Turner CL; Academic Unit of Genetic Medicine, School of Medicine, University of Southampton, Princess Anne Hospital, Southampton, UK., Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Jun; Vol. 18 (6), pp. 648-55. Date of Electronic Publication: 2010 Jan 27.