Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Autor: Jain V; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. vani.jain@wales.nhs.uk., Foo SH; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; Department of Dermatology, Gleneagles Hospital Medini, Nusajaya, 79250, Johor, Malaysia., Chooi S; School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK., Moss C; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK., Goodwin R; Department of Dermatology, Royal Gwent Hospital, Newport, NP20 2UB, UK., Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Clarke AJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Davies SJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Corrin S; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Doyle S; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland.; Department of Clinical Genetics, The National Maternity Hospital, Holles Street, Dublin, D02 YH21, Ireland., Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, K1H 8L1, Canada., Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., Holder SE; North West Thames Regional Genetic Service, Kennedy Galton Centre, Northwick Park Hospital, Harrow, HA1 3UJ, UK., Johnson D; Department of Clinical Genetics, Northern General Hospital, Sheffield, S5 7AU, UK., Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, WC1N 3JH, UK., Ladda RL; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA., Sell S; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA., Begtrup A; GeneDx, Gaithersburg, Maryland, 20877, USA., Lynch SA; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland., McCann E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., Østern R; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, 7030, Trondheim, Norway., Pottinger C; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK., Fry AE; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. fryae@cardiff.ac.uk.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. fryae@cardiff.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Dec; Vol. 31 (12), pp. 1421-1429. Date of Electronic Publication: 2023 Sep 14.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Autor: Bell S; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Rousseau J; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Peng H; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Aouabed Z; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Priam P; Institute for Research in Immunology and Cancer (IRIC), University of Montreal, Montreal, QC H3T 1J4, Canada., Theroux JF; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Jefri M; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Tanti A; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Wu H; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Kolobova I; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Silviera H; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Manzano-Vargas K; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Ehresmann S; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Hamdan FF; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Hettige N; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Zhang X; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Antonyan L; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Nassif C; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Ghaloul-Gonzalez L; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Sebastian J; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Vockley J; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Begtrup AG; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., Nicholls RD; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Herman KC; University of California at Davis Medical Center, Section of Medical Genomics, Sacramento, CA 95817, USA., Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Al-Hertani W; Departments of Medical Genetics and Paediatrics, Cumming School of Medicine, Alberta Children's Hospital and University of Calgary, Calgary, AB T3B 6A8, Canada., Efthymiou S; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK., Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Makita Y; Education Center, Asahikawa Medical University, Asahikawa 078-8510, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Østern R; Department of Pediatrics, St. Olav's Hospital, Trondheim University Hospital, Postbox 3250, Sluppen 7006 Trondheim, Norway., Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Hafström M; Department of Pediatrics, St. Olav's Hospital, Trondheim University Hospital, Postbox 3250, Sluppen 7006 Trondheim, Norway., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands., Nelson D; McGill University, Department of Human Genetics, Montreal, QC H3G 0B1, Canada., Goldstein A; Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK., van Gils J; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, University Paris Diderot, Paris 75015, France., Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, University Paris Diderot, Paris 75015, France., Delorme R; Assistance Publique Hôpitaux de Paris (APHP), Robert Debré Hospital, Child and Adolescent Psychiatry Department, Paris, France., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Martinez JE; Children's Rehabilitation Service, Mobile, AL 36604, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Carmant L; Children's Rehabilitation Service, Mobile, AL 36604, USA., Lortie A; Department of Neurology, University of Montreal, Montreal, QC, Canada., Oegema R; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Mehta SG; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Huhle D; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany., Martin S; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen 6500 GA, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Lindhout D; Department of Genetics, University Medical Center Utrecht, Utrecht & Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands., Au M; Medical Genetics, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA., Graham JM Jr; Medical Genetics, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA., Coubes C; Service de génétique clinique, Département de génétique médicale, Maladies rares et médecine personnalisée, Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, CHU de Montpellier, 34295 Montpellier Cedex 5, France., Turecki G; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Gravel S; Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands., Mechawar N; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Rossignol E; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud JL; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Lessard J; Institute for Research in Immunology and Cancer (IRIC), University of Montreal, Montreal, QC H3T 1J4, Canada., Ernst C; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada. Electronic address: carl.ernst@mcgill.ca., Campeau PM; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 815-834. Date of Electronic Publication: 2019 Apr 25.

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The body - friend or foe in dance? A critical reflection on the body through the Norwegian national curriculum renewal of the upper secondary school subject Dance Techniques.

Autor: Østern, Tone Pernille, Sundberg, Rikke Axelsen, Martin, Rose

Publikováno v: Journal for Research in Arts & Sports Education; 2022, Vol. 6 Issue 4, p23-42, 20p