Screening for autism spectrum disorder in deaf adults with intellectual disability: Feasibility and accuracy of two autism screening instruments

Autor: Hofer, J., Tillmann, J., Salzmann, J., Bölte, S., Fellinger, J., Holzinger, D. ^*

Publikováno v: In Research in Developmental Disabilities March 2022 122

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Autor: Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. f.saettini@gmail.com., Guerra F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom., Mauri M; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Adam MP; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Adams D; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Barredo E; Neuropediatric Department, Hospital Universitario Gregorio Marañón, Madrid, Spain., Bhatia S; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Borkhardt A; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Bugarin C; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Chinello C; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK., D'Souza P; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Denti V; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Fazio G; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Giuliani S; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Kuehn HS; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Amel H; Pediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar., Elmi A; Research Branch, Sidra Medicine, Doha, Qatar., Lo B; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Malighetti F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Mandrile G; Department of Medical Sciences, University of Turin, Turin, Italy., Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mefford HC; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy., Emam Mousavi F; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Nelson Z; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA, USA., Gutiérrez-Solana LG; Hospital Infantil Niño Jesús, Madrid, Madrid, Spain., Macnamara E; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Michaud V; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, Aquitaine, France. INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Aquitaine, Talence, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pagani L; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Santamaria PV; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Quadri M; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Raspall-Chaure M; Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Rebellato S; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Rosenzweig SD; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Holzinger D; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany., Deal C; Division of Pediatric Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Vockley CW; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Savino AM; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., L Stoddard J; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Uhlig HH; Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, University of Oxford, Oxfordshire, UK.; Department of Paediatrics, University of Oxford, Oxfordshire, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain., Magni F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Paglia G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Cazzaniga G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Piazza R; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Barberis M; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Biondi A; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Sep 23; Vol. 45 (1), pp. 15. Date of Electronic Publication: 2024 Sep 23.

Prevalence of human papillomaviruses in self-collected samples among women attending antenatal care in Ethiopia: a cross-sectional study.

Autor: Runge I; Department of Gynaecology, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany., Klein JMA; Department of Gynaecology, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany., Pannen AK; Department of Gynaecology, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany., Abera S; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Department of Radiation Oncology, Faculty of Medicine, Martin-Luther-University Halle-Wittenberg, 06108 Halle (Saale), Germany.; School of Public Health, College of Health Sciences, Mekelle University, Mekele 0231, Ethiopia.; Kilte Awlaelo - Health and Demographic Surveillance Site, College of Health Sciences, Mekelle University, Mekele 0231, Ethiopia., Wakuma T; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Aira Hospital, Aira, Ethiopia., Gebrehiwot Y; Department of Obstetrics and Gynaecology, College of Health Sciences, Addis Ababa University, Addis Ababa 1000, Ethiopia., Unverzagt S; Institute of General Practice and Family Medicine, Center of Health Sciences, Martin-Luther-University Halle-Wittenberg, 06097 Halle (Saale), Germany., Wienke A; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany., Thomssen C; Department of Gynaecology, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany., Kaufmann AM; Clinic for Gynecology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Berlin Institute of Health, Campus Virchow Klinikum, Humboldt-Universität zu Berlin, 10117 Berlin, Germany., Jemal A; American Cancer Society, Atlanta, GA 30303, USA., Abebe T; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Department of Microbiology, Immunology & Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa 1000, Ethiopia., Holzinger D; Infections and Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Waterboer T; Infections and Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Höfler D; Infections and Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Addissie A; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; School of Public Health, College of Health Sciences, Addis Ababa University, Addis Ababa 1000, Ethiopia., Kantelhardt EJ; Department of Gynaecology, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.; Global Health Working Group, Institute of Medical Epidemiology, Biometrics and Informatics, Martin-Luther-University Halle-Wittenberg, 06108 Halle, Germany.

Publikováno v: Ecancermedicalscience [Ecancermedicalscience] 2024 Aug 14; Vol. 18, pp. 1739. Date of Electronic Publication: 2024 Aug 14 (Print Publication: 2024).

Research gaps in the neurodevelopmental assessment of children with complex congenital heart defects: a scoping review.

Autor: Hofer J; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria.; Institute of Neurology of Senses and Language, Hospital of St. John of God, Linz, Austria., Blum M; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria., Wiltsche R; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria., Deluggi N; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria., Holzinger D; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria.; Institute of Neurology of Senses and Language, Hospital of St. John of God, Linz, Austria.; Institute of Linguistics, University of Graz, Graz, Austria., Fellinger J; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria.; Institute of Neurology of Senses and Language, Hospital of St. John of God, Linz, Austria.; Division of Social Psychiatry, University Clinic for Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria., Tulzer G; Department of Pediatric Cardiology, Children's Heart Center Linz, Kepler University Hospital, Linz, Austria., Blum G; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria., Oberhuber R; Research Institute for Developmental Medicine, Johannes Kepler University of Linz, Linz, Austria.; Department of Pediatric Cardiology, Children's Heart Center Linz, Kepler University Hospital, Linz, Austria.; Department of Inclusive Education, University of Education Upper Austria, Linz, Austria.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2024 May 23; Vol. 12, pp. 1340495. Date of Electronic Publication: 2024 May 23 (Print Publication: 2024).

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