The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Autor: Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 574-584. Date of Electronic Publication: 2024 Jul 11.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Autor: Niclass T; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France., Le Guyader G; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; EA 3808 NEUVACOD, Université de Poitiers, Poitiers, France., Beneteau C; Department of Medical Genetics, Centre Hospitalier Universitaire de Nantes, Nantes, France., Joubert M; Department of Anatomic and Fetal Pathology, Centre Hospitalier Universitaire de Nantes, Nantes, France., Pizzuti A; Department of Medical Genetics, Policlinico di Roma, Rome, Italy., Giuffrida MG; Fondazione IRCCS Casa Sollievo della Sofferenza, Cytogenetics Unit, San Giovanni Rotondo, FG, Italy., Bernardini L; Fondazione IRCCS Casa Sollievo della Sofferenza, Cytogenetics Unit, San Giovanni Rotondo, FG, Italy., Gilbert-Dussardier B; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; EA 3808 NEUVACOD, Université de Poitiers, Poitiers, France., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; EA 3808 NEUVACOD, Université de Poitiers, Poitiers, France., Egloff M; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Experimentales et Cliniques, INSERM, Poitiers, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2133-2138. Date of Electronic Publication: 2020 Jul 06.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Autor: Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Redaelli, Serena, Massimello, Marta, Maitz, Silvia Beatrice, Gentile, Mattia, Ponzi, Emanuela, Orsini, Paola, Zilio, Anna, Montaldi, Annamaria, Calò, Annapaola, Capra, Anna Paola, Briuglia, Silvana, La Rosa, Maria Angela, Grillo, Lucia, Romano, Corrado, Bianca, Sebastiano, Malacarne, Michela, Busè, Martina

Publikováno v: Genes; May2022, Vol. 13 Issue 5, p780-780, 12p