Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts.

Autor: Binks SNM; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Department of Neurology, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Elliott KS; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Muñiz-Castrillo S; Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA., Gilbert E; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland.; FutureNeuro SFI Research Centre, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland., Kawasaki de Araujo T; Department of Translational Medicine, School of Medical Sciences, University of Campinas - UNICAMP, CEP 13083-888 - Campinas, Brazil., Harper AR; Clinical Development, Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, Cambridge, CB2 0AA, UK., Brown AC; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Chong AY; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Band G; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Peris Sempere V; Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA., Pinto AL; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Costantino F; Université Paris-Saclay, UVSQ, INSERM UMR1173, Infection et inflammation, Laboratory of Excellence INFLAMEX, France.; Rheumatology Department, APHP, Ambroise Paré Hospital, 92100, France., Rayner NW; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.; Institute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, D-85764, Germany., Mentzer AJ; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.; Nuffield Department of Medicine, University of Oxford, Old Road Campus, Oxford, OX3 7BN, UK., Delanty N; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland.; FutureNeuro SFI Research Centre, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland., Rogemond V; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Picard G; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Handel AE; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Department of Neurology, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Melzer N; Department of Neurology, Medical Faculty and University Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, 40204, Germany., Titulaer MJ; Department of Neurology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands., Lee ST; Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea., Leypoldt F; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, 24105, Germany.; Institute of Clinical Chemistry, University Hospital Schleswig-Holstein Kiel, 24105/Lübeck, 23538, Germany., Kuhlenbaeumer G; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, 24105, Germany., Honnorat J; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Mignot E; Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA., Cavelleri GL; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland., Knight JC; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Irani SR; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Department of Neurosciences, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Oct 26. Date of Electronic Publication: 2024 Oct 26.

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Autor: Kawasaki de Araujo T; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Lustosa-Mendes E; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Dos Santos AP; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Coelho Molck M; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Mazzariol Volpe-Aquino R; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Gil-da-Silva-Lopes VL; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Publikováno v: Molecular syndromology [Mol Syndromol] 2017 Jun; Vol. 8 (4), pp. 201-205. Date of Electronic Publication: 2017 Apr 13.

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.

Autor: Jichao Zhou, Yuchen Wang, Yinghong Zhang, Debo You, Yi Wang

Publikováno v: Frontiers in Genetics; 2023, p1-8, 8p

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome.

Autor: Baker, Elizabeth K., Brewer, Casey J., Ferreira, Leonardo, Schapiro, Mark, Tenney, Jeffrey, Wied, Heather M., Kline‐Fath, Beth M., Smolarek, Teresa A., Weaver, K. Nicole, Hopkin, Robert J.

Publikováno v: American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p526-539, 14p

Children with Disabilities

Autor: Nancy Peterson, Mark Batshaw, Nancy Roizen, Louis Pellegrino

Explore what's new in the new edition!Trusted for four decades by university faculty and relied on by thousands of professionals from diverse fields, Children with Disabilities is the gold-standard text on working effectively with children and famili