Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada

Autor: Ga, Horvath, Ag, Davidson, Sg, Stockler-Ipsiroglu, Yp, Lillquist, Pj, Waters, Olpin S, Bs, Andresen, Palaty J, Nelson J, Hilary Vallance

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a02ced7c57397a46591b4d2c35b46e1d
http://europepmc.org/abstract/med/18767270

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Autor: Holm LL; Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.; Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Doktor TK; Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.; Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Flugt KK; Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.; Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Petersen USS; Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.; Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Petersen R; Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.; Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Andresen BS; Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.; Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2024 May 08; Vol. 52 (8), pp. 4588-4603.

Study protocol for RUFUS-A randomized mixed methods pilot clinical trial investigating the relevance and feasibility of rumination-focused cognitive behavioral therapy in the treatment of patients with emergent psychosis spectrum disorders.

Autor: Clemmensen L; VIRTU Research Group, Copenhagen Research Center on Mental Health (CORE), Copenhagen University Hospital, Copenhagen, Denmark., Lund CN; Mental Health Center Glostrup, Glostrup, Denmark., Andresen BS; Mental Health Center Glostrup, Glostrup, Denmark., Midtgaard J; Center for Applied Research in Mental Health Care (CARMEN), Mental Health Center Glostrup, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Glenthøj LB; VIRTU Research Group, Copenhagen Research Center on Mental Health (CORE), Copenhagen University Hospital, Copenhagen, Denmark.; Department of Psychology, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: PloS one [PLoS One] 2024 Jan 25; Vol. 19 (1), pp. e0297118. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).

Trans-Regulation of Alternative PD-L1 mRNA Processing by CDK12 in Non-Small-Cell Lung Cancer Cells.

Autor: Larsen TV; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark., Maansson CT; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, 8200 Aarhus, Denmark.; Department of Clinical Biochemistry, Aarhus University Hospital, 8200 Aarhus, Denmark., Daugaard TF; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark., Andresen BS; Department of Biology and Molecular Biology, Southern University of Denmark, 5230 Odense, Denmark., Sorensen BS; Department of Clinical Medicine, Aarhus University, 8200 Aarhus, Denmark.; Department of Clinical Biochemistry, Aarhus University Hospital, 8200 Aarhus, Denmark., Nielsen AL; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.

Publikováno v: Cells [Cells] 2023 Dec 15; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 15.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Autor: Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark., Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Menendez M; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDTP, CIBERONC, Hospitalet de Llobregat, Spain., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Esteban-Sánchez A; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Törngren T; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Teo SH; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark., Møller P; Department of Tumour Biology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway., Borg Å; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark., Christensen LL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Singer CF; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Muhr D; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Santamarina M; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Brandao R; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark., Feng BJ; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA., Canson D; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Richardson ME; Ambry Genetics, Aliso Viejo, California, USA., Karam R; Ambry Genetics, Aliso Viejo, California, USA., Pesaran T; Ambry Genetics, Aliso Viejo, California, USA., LaDuca H; Ambry Genetics, Aliso Viejo, California, USA., Conner BR; Ambry Genetics, Aliso Viejo, California, USA., Abualkheir N; Ambry Genetics, Aliso Viejo, California, USA., Hoang L; Ambry Genetics, Aliso Viejo, California, USA., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Andrews L; Hereditary Cancer Clinic, Nelune Comprehensive Cancer Care Centre, Sydney, New South Wales, Australia., James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia., Bunyan D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hamblett A; Middlesex Health Shoreline Cancer Center, Westbrook, Connecticut, USA., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Claes KBM; Centre for Medical Genetics, Ghent University, Gent, Belgium., Macháčková E; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Viel A; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Lazaro C; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDTP, CIBERONC, Hospitalet de Llobregat, Spain., Vega A; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

Publikováno v: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1921-1944. Date of Electronic Publication: 2022 Oct 23.