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Central conducting lymphatic anomaly: from bench to bedside.

Autor: Garlisi Torales LD; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Sempowski BA; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Krikorian GL; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Woodis KM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Paulissen SM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Smith CL; Division of Cardiology, Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sheppard SE; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Apr 15; Vol. 134 (8). Date of Electronic Publication: 2024 Apr 15.

Updates in Genetic Testing for Head and Neck Vascular Anomalies.

Autor: Woodis KM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA., Garlisi Torales LD; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA., Wolf A; Department of Pathology and ARUP Laboratories, University of Utah, 2000 Circle of Hope, Room 3100, Salt Lake City, UT 84112, USA., Britt A; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sheppard SE; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA. Electronic address: sarah.sheppard@nih.gov.

Publikováno v: Oral and maxillofacial surgery clinics of North America [Oral Maxillofac Surg Clin North Am] 2024 Feb; Vol. 36 (1), pp. 1-17. Date of Electronic Publication: 2023 Oct 20.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Autor: Gracia-Diaz C; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Yang Q; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Espana-Bonilla P; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Lee CH; Department of Biomedical Sciences and Pharmacology, Seoul National University, College of Medicine, Seoul, South Korea., Zhang S; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain., Fueyo R; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Waxman EA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lei S; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Otrimski G; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mark P; Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Powel C; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Mohammed S; Guy's Hospital, London, UK., Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzaidan H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Turchetti V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Rahman F; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Ibrahim SH; Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., di Rosa G; Child Neuropsychiatry Unit, Department of Pediatrics, University of Messina, Messina, 98100, Italy., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Alharbi MN; Maternity and Children Hospital Buraidah, Qassim Health Cluster, Buraydah, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Bauer P; Centogene GmbH, Rostock, Germany., Zifarelli G; Centogene GmbH, Rostock, Germany., Estaras C; Center for Translational Medicine, Department of Cardiovascular Sciences, Temple University, Philadelphia, PA, USA., Hurst ACE; University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Chassevent A; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks CL; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Holtz AM; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, 20877, USA., Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., French DL; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Heller EA; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Saade M; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Song H; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Ming GL; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Agrawal PB; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Holtz Children's Hospital, Jackson Heath System, Miami, FL, USA., Reinberg D; HHMI/NYU Langone School of Medicine, New York, NY, USA., Bhoj EJ; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Martínez-Balbás MA; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. aquizun@chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. aquizun@chop.edu.

Publikováno v: Nature communications [Nat Commun] 2023 Jul 11; Vol. 14 (1), pp. 4109. Date of Electronic Publication: 2023 Jul 11.

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Autor: Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Lid2@chop.edu., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Battig MR; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Surrey LF; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Srinivasan AS; Division of Interventional Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Matsuoka LS; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Tian L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang F; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Seiler C; Zebrafish Core, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dayneka J; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Borst AJ; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Matos MC; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Paulissen SM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Krishnamurthy G; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nriagu B; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sikder T; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Casey M; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Williams L; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rangu S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., O'Connor N; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Thomas A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pinto E; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hou C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nguyen K; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pellegrino da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chehimi SN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kao C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Biroc L; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Britt AD; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Queenan M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Reid JR; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Napoli JA; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Low DM; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vatsky S; Division of Interventional Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Treat J; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smith CL; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cahill AM; Division of Interventional Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Snyder KM; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Adams DM; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dori Y; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@chop.edu.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@chop.edu.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. hakonarson@chop.edu.

Publikováno v: Nature medicine [Nat Med] 2023 Jun; Vol. 29 (6), pp. 1530-1539. Date of Electronic Publication: 2023 Jun 01.