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    Wyświetlanie 1-81 z 81
    Podgląd okładki
    Tytuł :
    Expanding the Phenotype, Genotype and Biochemical Knowledge of ALG3-CDG.
    Autorzy :
    Alsharhan H; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.
    Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
    Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Friedman J; Division of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA.
    Pivnick EK; Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Science Center (UTHSC), Memphis, Tennessee, USA.
    Al-Hashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
    Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
    Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
    Engelhardt NM; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Keller KN; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Chen J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Mazzeo PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
    Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute, Seattle, WA, USA.
    Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute, Seattle, WA, USA.
    Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
    Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
    He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Center of Integrated Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
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    Corporate Authors :
    University of Washington Center for Mendelian Genomics (UW-CMG)
    Źródło :
    Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Feb 13. Date of Electronic Publication: 2021 Feb 13.
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
    Autorzy :
    Starosta RT; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. .; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. .; Department of Pediatrics, Washington University in Saint Louis, St. Louis, MO, USA. .
    Boyer S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
    Tahata S; Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
    Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
    Lee HE; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
    Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, USA.
    Lam C; Division of Genetic Medicine, University of Washington, Seattle, WA, USA.; Center of Integrated Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
    Edmondson AC; Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Schwartz IVD; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; Service of Medical Genetics, Hospital de Clínicas de Porto Alegre, UFRGS, Porto Alegre, RS, Brazil.
    Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
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    Źródło :
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jan 07; Vol. 16 (1), pp. 20. Date of Electronic Publication: 2021 Jan 07.
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły Pełny tekst Pełny tekst
    Podgląd okładki
    Tytuł :
    X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.
    Autorzy :
    Terzic B; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
    Cui Y; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
    Edmondson AC; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
    Tang S; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Child Neurology and CHOP Research Institute, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
    Sarmiento N; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
    Zaitseva D; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
    Marsh ED; Departments of Neuroscience, Neurology, and Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Child Neurology and CHOP Research Institute, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
    Coulter DA; Departments of Neuroscience, Neurology, and Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Child Neurology and CHOP Research Institute, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
    Zhou Z; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address: .
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    Źródło :
    Neurobiology of disease [Neurobiol Dis] 2021 Jan; Vol. 148, pp. 105176. Date of Electronic Publication: 2020 Nov 13.
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
    Autorzy :
    Altassan R; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
    Radenkovic S; Metabolomics Expertise Center, Center for Cancer Biology, VIB, Leuven, Belgium.; Metabolomics Expertise Center, Department of Oncology, KU Leuven, Leuven, Belgium.; Laboratory of Hepatology, Department CHROMETA, KU Leuven, Leuven, Belgium.; Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, Minnesota, USA.
    Edmondson AC; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Barone R; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
    Brasil S; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
    Cechova A; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
    Coman D; Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
    Donoghue S; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.
    Falkenstein K; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
    Ferreira V; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.
    Ferreira C; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
    Fiumara A; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
    Francisco R; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
    Freeze H; Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.
    Grunewald S; Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
    Honzik T; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
    Jaeken J; Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
    Krasnewich D; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
    Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
    Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.
    Lefeber D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
    Marques-da-Silva D; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
    Pascoal C; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
    Quelhas D; Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.
    Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
    Rymen D; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
    Seroczynska M; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
    Serrano M; Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
    Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
    Thiel C; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
    Tort F; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
    Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
    Videira P; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
    Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
    Witters P; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
    Morava E; Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, Minnesota, USA.
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    Źródło :
    Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jan; Vol. 44 (1), pp. 148-163. Date of Electronic Publication: 2020 Sep 15.
    Typ publikacji :
    Journal Article; Review
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
    Autorzy :
    Johnstone DL; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
    Nguyen TTM; Research Center, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.
    Zambonin J; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    St-Denis A; Research Center, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.
    Baratang NV; Research Center, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.
    Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
    Geraghty MT; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    Majewski J; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.
    Bareke E; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.
    Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
    Pendziwiat M; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany.
    Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
    Braakman HMH; Department of Neurology, Academic Center for Epileptology Kempenhaeghe & Maastricht University Medical Center, Heeze, The Netherlands.; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
    Gripp KW; Division of Medical Genetics, A. I. DuPont Hospital for Children/Nemours, Wilmington, Delaware, USA.
    Edmondson AC; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
    Eklund EA; Department of Pediatric Neurology, Region Skåne and Clinical Sciences, Lund University Skåne University Hospital (SUS), Lund, Sweden.
    Bayat A; Department of Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.
    McMillan HJ; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    Campeau PM; Research Center, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
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    Źródło :
    Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1321-1332. Date of Electronic Publication: 2020 Aug 03.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Missing the Near Miss: Recognizing Valuable Learning Opportunities in Radiation Oncology.
    Autorzy :
    Kundu P; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, California. Electronic address: .
    Jung OS; Harvard Business School, Cambridge, Massachusetts.
    Valle LF; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, California.
    Edmondson AC; Harvard Business School, Cambridge, Massachusetts.
    Agazaryan N; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, California.
    Hegde J; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, California.
    Steinberg M; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, California.
    Raldow A; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, California.
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    Źródło :
    Practical radiation oncology [Pract Radiat Oncol] 2020 Sep 22. Date of Electronic Publication: 2020 Sep 22.
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Lumen Diameter and Associated Anatomy of the Superior Labial Artery With a Clinical Application to Dermal Filler Injection.
    Autorzy :
    Money SM; Medical College of Georgia at Augusta University, Augusta, Georgia.
    Wall WB; Departments of Dermatology, and.
    Davis LS; Departments of Dermatology, and.
    Edmondson AC; Cellular Biology and Anatomy, Medical College of Georgia at Augusta University, Augusta, Georgia.
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    Źródło :
    Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] [Dermatol Surg] 2020 May; Vol. 46 (5), pp. 678-684.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Anatomic Landmarks*
    Arteries/*anatomy & histology
    Dermal Fillers/*administration & dosage
    Lip/*blood supply
    Aged ; Animals ; Cadaver ; Cats ; Female ; Humans ; Injections ; Male ; Middle Aged
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
    Autorzy :
    Zilmer M; Department of Paediatrics, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.
    Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Khetarpal SA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Alesi V; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
    Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
    Rostasy K; Department of Paediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, 45711 Datteln, Germany.
    Madsen CG; Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, 2650 Hvidovre, Denmark.
    Lepri FR; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
    Sinibaldi L; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
    Cusmai R; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
    Novelli A; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
    Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
    Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.; Amplexa Genetics A/S, 5000 Odense C, Denmark.
    Abou Jamra R; Institute of Human Genetics, University of Leipzig, 04103 Leipzig, Germany.
    Reutter H; Department of Neonatology and Pediatric Intensive Care, University Hospital of Bonn, 53012 Bonn, Germany.; Institute of Human Genetics, University Hospital of Bonn, 53012 Bonn, Germany.
    Briuglia S; Medical Genetics of Messina University, 98125 Messina, Italy.
    Agolini E; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
    Hansen L; Copenhagen Centre for Glycomics, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, 2200 Copenhagen N, Denmark.
    Petäjä-Repo UE; Research Unit of Biomedicine, University of Oulu, 90014 University of Oulu, Finland.
    Hintze J; Copenhagen Centre for Glycomics, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, 2200 Copenhagen N, Denmark.
    Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
    Liedtke K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
    Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, CA 92093, USA.
    Musaev D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, CA 92093, USA.
    Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, CA 92093, USA.
    Vitali C; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    O'Brien WT; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Gardella E; Department of Neurophysiology, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.
    Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.
    Rader DJ; Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Schjoldager KT; Copenhagen Centre for Glycomics, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, 2200 Copenhagen N, Denmark.
    Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5000 Odense C, Denmark.
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    Źródło :
    Brain : a journal of neurology [Brain] 2020 Apr 01; Vol. 143 (4), pp. 1114-1126.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Apolipoprotein C-III/*blood
    Developmental Disabilities/*genetics
    N-Acetylgalactosaminyltransferases/*genetics
    Adolescent ; Animals ; Apolipoprotein C-III/genetics ; Child ; Child, Preschool ; Female ; Glycosylation ; Humans ; Loss of Function Mutation ; Male ; Mice ; Pedigree ; Rats ; Young Adult
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
    Autorzy :
    Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
    Sosicka P; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
    Agadi S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
    Barone R; Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
    Botto LD; Departments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
    Burton JE; Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.
    Carlston C; Department of Pathology, University of Utah, Salt Lake City, Utah.
    Chung BH; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
    Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
    Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Brisbane, Australia.
    Dipple KM; Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.; Department of Human Genetics, UCLA, Los Angeles, California.
    Dorrani N; Department of Pediatrics, UCLA, Los Angeles, California.
    Dobyns WB; Departments of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
    Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
    Epstein L; Northwestern University Feinberg School of Medicine, Chicago, Illinois.
    Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland.
    Garozzo D; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
    Hammer TB; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.
    Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
    Héron D; APHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.
    Herzog M; Department of Human Genetics, UCLA, Los Angeles, California.
    Hoganson GE; Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.
    Hunter JM; Ambry Genetics, Aliso Viejo, California.
    Jain M; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
    Juusola J; GeneDx, Gaithersburg, Maryland.
    Lakhani S; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.
    Lee H; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, California.
    Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
    Lewis K; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
    Longo N; Departments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
    Lourenço CM; Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil.
    Mak CCY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
    McKnight D; GeneDx, Gaithersburg, Maryland.
    Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
    Mignot C; APHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.
    Mirzaa G; Departments of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
    Mitchell W; Neurology Division Children's Hospital Los Angeles, Los Angeles, California.; Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, California.
    Muhle H; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany.
    Nelson SF; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, California.; Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, California.
    Olczak M; Laboratory of Biochemistry, Faculty of Biotechnology, University of Wroclaw, Wroclaw, Poland.
    Palmer CGS; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, California.; Institute for Society and Genetics, UCLA, Los Angeles, California.
    Partikian A; Departments of Pediatrics & Neurology, Keck School of Medicine of University of Southern California, Los Angeles, California.
    Patterson MC; Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota.
    Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
    Quinonez SC; Division of Genetics, Department of Pediatrics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan.
    Regan BM; The University of Melbourne, Austin Health, Melbourne, Australia.
    Ross ME; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.
    Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland.
    Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong SAR.
    Scheffer IE; The University of Melbourne, Austin Health, Melbourne, Australia.; The University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia.
    Segal D; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.; Department of Pediatrics, Division of Child Neurology, Weill Cornell Medicine, New York, New York.
    Singhal NS; Neurology & Pediatrics, University of California, San Francisco, California.
    Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, University of Genoa, Genova, Italy.
    Sturiale L; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
    Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, UK.
    Tang S; Ambry Genetics, Aliso Viejo, California.
    Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Columbia, Washington.
    Willis M; Department of Pediatrics, Naval Medical Center, San Diego, California.
    Wolfe LA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland.
    Yang H; GeneDx, Gaithersburg, Maryland.
    Yano S; Department of Pediatrics, Genetics Division, LAC+USC Medical Center, University of Southern California, Los Angeles, California.
    Powis Z; Ambry Genetics, Aliso Viejo, California.
    Suchy SF; Ambry Genetics, Aliso Viejo, California.
    Rosenfeld JA; GeneDx, Gaithersburg, Maryland.
    Edmondson AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Grunewald S; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Freeze HH; Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.
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    Źródło :
    Human mutation [Hum Mutat] 2019 Jul; Vol. 40 (7), pp. 908-925. Date of Electronic Publication: 2019 Apr 24.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Congenital Disorders of Glycosylation/*genetics
    Monosaccharide Transport Proteins/*genetics
    Monosaccharide Transport Proteins/*metabolism
    Uridine Diphosphate Galactose/*metabolism
    Animals ; Biopsy ; CHO Cells ; Cells, Cultured ; Congenital Disorders of Glycosylation/metabolism ; Congenital Disorders of Glycosylation/pathology ; Cricetulus ; Female ; Humans ; Male ; Mutation
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Business Strategies to Promote Health-Reply.
    Autorzy :
    Koh HK; Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
    Singer SJ; Stanford University School of Medicine, Stanford, California.
    Edmondson AC; Harvard Business School, Boston, Massachusetts.
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    Źródło :
    JAMA [JAMA] 2019 Jun 04; Vol. 321 (21), pp. 2134.
    Typ publikacji :
    Letter; Comment
    MeSH Terms :
    Commerce*
    Opinia redakcyjna
    Szczegóły
    Podgląd okładki
    Tytuł :
    The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
    Autorzy :
    Radenkovic S; Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
    Bird MJ; Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Clinical Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium.
    Emmerzaal TL; Department of Anatomy, Radboud University Medical Centre, Donders Institute for Brain Cognition and Behaviour, 6535 HR Nijmegen, the Netherlands.
    Wong SY; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA.
    Felgueira C; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
    Stiers KM; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
    Sabbagh L; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA.
    Himmelreich N; Center for Child and Adolescent Medicine, Department I, University of Heidelberg, 69120 Heidelberg, Germany.
    Poschet G; Centre for Organismal Studies, University of Heidelberg, 69120 Heidelberg, Germany.
    Windmolders P; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
    Verheijen J; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
    Witters P; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
    Altassan R; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium; Medical Genetics Department, Montréal Children's Hospital, McGill University, Montreal, QC H4A3J1, Canada.
    Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague, Czech Republic.
    Eminoglu TF; Department of Pediatric Metabolism and Nutrition, Ankara University School of Medicine, 06560 Ankara, Turkey.
    James PM; Phoenix Children's Medical Group, Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
    Edmondson AC; Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
    Hertecant J; Department of Pediatrics, United Arab Emirates University, Al Ain, United Arab Emirates.
    Kozicz T; Department of Anatomy, Radboud University Medical Centre, Donders Institute for Brain Cognition and Behaviour, 6535 HR Nijmegen, the Netherlands; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
    Thiel C; Center for Child and Adolescent Medicine, Department I, University of Heidelberg, 69120 Heidelberg, Germany.
    Vermeersch P; Clinical Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium; Department of Cardiovascular Sciences, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
    Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
    Beamer L; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
    Morava E; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium. Electronic address: .
    Ghesquière B; Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address: .
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    Źródło :
    American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 835-846. Date of Electronic Publication: 2019 Apr 11.
    Typ publikacji :
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Congenital Disorders of Glycosylation/*metabolism
    Fibroblasts/*metabolism
    Galactose/*administration & dosage
    Phosphoglucomutase/*deficiency
    Uridine Diphosphate Galactose/*metabolism
    Uridine Diphosphate Glucose/*metabolism
    Cells, Cultured ; Cohort Studies ; Congenital Disorders of Glycosylation/drug therapy ; Congenital Disorders of Glycosylation/pathology ; Fibroblasts/drug effects ; Fibroblasts/pathology ; Glycosylation ; Humans
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Burnout in Surgery Viewed Through the Lens of Psychological Safety.
    Autorzy :
    Swendiman RA; Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia, PA.
    Edmondson AC; Harvard Business School, Boston, MA.
    Mahmoud NN; Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia, PA.
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    Źródło :
    Annals of surgery [Ann Surg] 2019 Feb; Vol. 269 (2), pp. 234-235.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Burnout, Professional*/psychology
    General Surgery*
    Occupational Health*
    Humans
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
    Autorzy :
    Yap KL; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
    Johnson AEK; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Fischer D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Kandikatla P; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Deml J; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Nelakuditi V; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Halbach S; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Jeha GS; Pediatric Diabetes and Endocrinology, Texas Children's Hospital, Houston, Texas, USA.
    Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Benavides VC; Division of Pediatric Endocrinology, University of Illinois College of Medicine, Peoria, Illinois, USA.
    Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Newcastle upon Tyne, UK.
    Shah P; Great Ormond Street Hospital, London, UK.
    Cody D; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
    Diaz A; Pediatric Endocrinology, Pediatric Specialists of America, Nicklaus Children's Hospital, Miami, Florida, USA.
    Devarajan A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Truong L; Cook Children's Medical Center, Fort Worth, Texas, USA.
    Greeley SAW; Department of Pediatrics and Medicine, The University of Chicago Medicine, Chicago, Illinois, USA.
    De Leó-Crutchlow DD; Department of Pediatrics, Divisions of Endocrinology and Genetics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
    Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Das S; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Thornton P; Cook Children's Medical Center, Fort Worth, Texas, USA.
    Waggoner D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Del Gaudio D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA. .
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    Źródło :
    Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 233-242. Date of Electronic Publication: 2018 Jun 15.
    Typ publikacji :
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Abnormalities, Multiple/*genetics
    Congenital Hyperinsulinism/*genetics
    DNA-Binding Proteins/*genetics
    Face/*abnormalities
    Hematologic Diseases/*genetics
    Histone Demethylases/*genetics
    Neoplasm Proteins/*genetics
    Nuclear Proteins/*genetics
    Vestibular Diseases/*genetics
    Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/physiopathology ; Child, Preschool ; Congenital Hyperinsulinism/complications ; Congenital Hyperinsulinism/diagnosis ; Congenital Hyperinsulinism/physiopathology ; Face/physiopathology ; Female ; Genetic Predisposition to Disease ; Hematologic Diseases/complications ; Hematologic Diseases/diagnosis ; Hematologic Diseases/physiopathology ; Humans ; Infant ; Intellectual Disability/complications ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Mutation ; Pathology, Molecular ; Retrospective Studies ; Vestibular Diseases/complications ; Vestibular Diseases/diagnosis ; Vestibular Diseases/physiopathology
    SCR Disease Name :
    Kabuki syndrome
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Health as a Way of Doing Business.
    Autorzy :
    Koh HK; Harvard T.H. Chan School of Public Health, Boston, Massachusetts.; Harvard Kennedy School, Cambridge, Massachusetts.
    Singer SJ; Stanford University School of Medicine, Stanford, California.; Graduate School of Business, Stanford, California.
    Edmondson AC; Harvard Business School, Boston, Massachusetts.
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    Źródło :
    JAMA [JAMA] 2019 Jan 01; Vol. 321 (1), pp. 33-34.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Commerce*
    Health Services*
    Community Health Services ; Conservation of Natural Resources ; Humans ; Occupational Health Services
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
    Autorzy :
    Yap KL; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
    Johnson AEK; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Fischer D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Kandikatla P; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Deml J; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Nelakuditi V; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Halbach S; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Jeha GS; Pediatric Diabetes and Endocrinology, Texas Children's Hospital, Houston, Texas, USA.
    Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Benavides VC; Division of Pediatric Endocrinology, University of Illinois College of Medicine, Peoria, Illinois, USA.
    Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Newcastle upon Tyne, UK.
    Shah P; Great Ormond Street Hospital, London, UK.
    Cody D; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
    Diaz A; Pediatric Endocrinology, Pediatric Specialists of America, Nicklaus Children's Hospital, Miami, Florida, USA.
    Devarajan A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Truong L; Cook Children's Medical Center, Fort Worth, Texas, USA.
    Greeley SAW; Department of Pediatrics and Medicine, The University of Chicago Medicine, Chicago, Illinois, USA.
    De Leon DD; Department of Pediatrics, Divisions of Endocrinology and Genetics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
    Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Das S; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Thornton P; Cook Children's Medical Center, Fort Worth, Texas, USA.
    Waggoner D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
    Del Gaudio D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA. .
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    Źródło :
    Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 262-265.
    Typ publikacji :
    Journal Article; Published Erratum
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    A human case of SLC35A3-related skeletal dysplasia.
    Autorzy :
    Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
    Bedoukian EC; Section of Genetic Counseling, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Deardorff MA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
    McDonald-McGinn DM; Section of Genetic Counseling, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Li X; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    He M; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
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    Źródło :
    American journal of medical genetics. Part A [Am J Med Genet A] 2017 Oct; Vol. 173 (10), pp. 2758-2762. Date of Electronic Publication: 2017 Aug 04.
    Typ publikacji :
    Case Reports; Journal Article
    MeSH Terms :
    Mutation, Missense*
    Nucleotide Transport Proteins/*genetics
    Osteochondrodysplasias/*pathology
    Adult ; Female ; Glycosylation ; Homozygote ; Humans ; Infant, Newborn ; Osteochondrodysplasias/genetics ; Prognosis
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
    Autorzy :
    Edmondson AC; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
    Salant J; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
    Ierardi-Curto LA; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
    Ficicioglu C; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA. .; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA. .
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    Źródło :
    JIMD reports [JIMD Rep] 2017; Vol. 33, pp. 93-97. Date of Electronic Publication: 2016 Apr 12.
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Erratum.
    Autorzy :
    Edmondson AC; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
    Salant J; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
    Ierardi-Curto LA; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
    Ficicioglu C; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA. .; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA. .
    Pokaż więcej
    Źródło :
    JIMD reports [JIMD Rep] 2017; Vol. 33, pp. 109-110.
    Typ publikacji :
    Journal Article; Published Erratum
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
    Autorzy :
    Long A; Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
    Sinkovskaya ES; Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
    Edmondson AC; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Zackai E; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
    Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
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    Źródło :
    American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3333-3337. Date of Electronic Publication: 2016 Aug 29.
    Typ publikacji :
    Case Reports; Journal Article
    MeSH Terms :
    Abnormalities, Multiple/*diagnosis
    Abnormalities, Multiple/*genetics
    Ascites/*etiology
    Face/*abnormalities
    Hematologic Diseases/*diagnosis
    Hematologic Diseases/*genetics
    Hydrops Fetalis/*etiology
    Vestibular Diseases/*diagnosis
    Vestibular Diseases/*genetics
    Adult ; Alleles ; Ascites/diagnosis ; Chromosome Banding ; DNA-Binding Proteins/genetics ; Facies ; Female ; Hematologic Diseases/complications ; Humans ; Hydrops Fetalis/diagnosis ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Mutation ; Neoplasm Proteins/genetics ; Phenotype ; Physical Examination ; Pregnancy ; Prenatal Diagnosis ; Quantitative Trait Loci ; Vestibular Diseases/complications
    SCR Disease Name :
    Kabuki syndrome
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
    Autorzy :
    Lin AE; Genetics Unit, Massachusetts General Hospital, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts. .
    Michot C; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.
    Cormier-Daire V; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.
    L'Ecuyer TJ; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
    Matherne GP; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
    Barnes BH; Division of Gastroenterology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
    Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
    Edmondson AC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    O'Connor MJ; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
    Ebeid MR; Division of Cardiology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
    Krier J; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
    Krieg E; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
    Ghoshhajra B; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
    Lindsay ME; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Pediatric Cardiology, Department of Pediatrics, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
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    Źródło :
    American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2617-31. Date of Electronic Publication: 2016 Jun 14.
    Typ publikacji :
    Case Reports; Journal Article; Review
    MeSH Terms :
    Mutation*
    Phenotype*
    Cardiovascular Abnormalities/*diagnosis
    Cardiovascular Abnormalities/*genetics
    Cryptorchidism/*diagnosis
    Cryptorchidism/*genetics
    Growth Disorders/*diagnosis
    Growth Disorders/*genetics
    Hand Deformities, Congenital/*diagnosis
    Hand Deformities, Congenital/*genetics
    Intellectual Disability/*diagnosis
    Intellectual Disability/*genetics
    Smad4 Protein/*genetics
    Adolescent ; Adult ; Cardiovascular Abnormalities/therapy ; Child ; Cryptorchidism/therapy ; Echocardiography ; Exons ; Facies ; Female ; Genetic Association Studies ; Growth Disorders/therapy ; Hand Deformities, Congenital/therapy ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/therapy ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed ; Treatment Outcome ; Ultrasonography ; Young Adult
    SCR Disease Name :
    Growth mental deficiency syndrome of Myhre
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
    Autorzy :
    Khetarpal SA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Schjoldager KT; Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Institute of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark. Electronic address: .
    Christoffersen C; Department of Clinical Biochemistry, Rigshospitalet and Department of Biomedical Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark.
    Raghavan A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Edmondson AC; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Reutter HM; Institute of Human Genetics, University of Bonn, Bonn 53012, Germany; Department of Neonatology and Pediatric Intensive Care, University of Bonn, Bonn 53012, Germany.
    Ahmed B; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco.
    Ouazzani R; Neurophysiology Division, Hospital of Specialities, CHIS Ibn Sina, 6402 Rabat, Morocco.
    Peloso GM; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA.
    Vitali C; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Zhao W; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Somasundara AV; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Millar JS; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Park Y; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Fernando G; Department of Cardiovascular Drug Discovery, Bristol-Myers Squibb, Pennington, NJ 08534, USA.
    Livanov V; Department of Applied Genomics, Bristol-Myers Squibb, Pennington, NJ 08534, USA.
    Choi S; Gacheon Cardiovascular Research Institute, Gachon University, 21565 Incheon, Korea.
    Noé E; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, and AP-HP, Department of Genetics, Pitié-La Salpêtrière Hospital, 75013 Paris, France.
    Patel P; Department of Applied Genomics, Bristol-Myers Squibb, Pennington, NJ 08534, USA.
    Ho SP; Department of Applied Genomics, Bristol-Myers Squibb, Pennington, NJ 08534, USA.
    Kirchgessner TG; Department of Cardiovascular Drug Discovery, Bristol-Myers Squibb, Pennington, NJ 08534, USA.
    Wandall HH; Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Institute of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark.
    Hansen L; Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Institute of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark.
    Bennett EP; Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Institute of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark.
    Vakhrushev SY; Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Institute of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark.
    Saleheen D; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, CB1 8RN Cambridge, UK; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Centre for Non-Communicable Diseases, 75300 Karachi, Pakistan.
    Kathiresan S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Medicine, Harvard Medical School, Boston, MA 02114, USA.
    Brown CD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Abou Jamra R; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
    LeGuern E; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, and AP-HP, Department of Genetics, Pitié-La Salpêtrière Hospital, 75013 Paris, France.
    Clausen H; Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Institute of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen 2200, Denmark.
    Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: .
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    Corporate Authors :
    Myocardial Infarction Exome Sequencing Study
    Źródło :
    Cell metabolism [Cell Metab] 2016 Aug 09; Vol. 24 (2), pp. 234-45.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Lipoproteins, HDL/*metabolism
    N-Acetylgalactosaminyltransferases/*deficiency
    Amino Acid Sequence ; Angiopoietin-like Proteins ; Angiopoietins/metabolism ; Animals ; Base Sequence ; Cholesterol, HDL/blood ; Gene Knockdown Techniques ; Glycoproteins/metabolism ; Homozygote ; Humans ; Liver/enzymology ; Mice ; Mice, Knockout ; Models, Animal ; Mutation/genetics ; N-Acetylgalactosaminyltransferases/chemistry ; N-Acetylgalactosaminyltransferases/genetics ; N-Acetylgalactosaminyltransferases/metabolism ; Phenotype ; Phospholipid Transfer Proteins/metabolism ; Polymorphism, Single Nucleotide/genetics ; Primates ; Proteomics ; Rats ; Triglycerides/metabolism
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Overgrowth Syndromes.
    Autorzy :
    Edmondson AC; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
    Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
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    Źródło :
    Journal of pediatric genetics [J Pediatr Genet] 2015 Sep; Vol. 4 (3), pp. 136-43. Date of Electronic Publication: 2015 Sep 25.
    Typ publikacji :
    Journal Article; Review
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    An 8-year-old girl with abdominal pain and mental status changes.
    Autorzy :
    Ahrens-Nicklas RC; Section of Metabolic Disease The Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia, PA.
    Edmondson AC
    Ficicioglu C
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    Źródło :
    Pediatric emergency care [Pediatr Emerg Care] 2015 Jun; Vol. 31 (6), pp. 459-62.
    Typ publikacji :
    Case Reports; Journal Article; Review
    MeSH Terms :
    Abdominal Pain/*etiology
    Consciousness Disorders/*etiology
    Hyperammonemia/*etiology
    Liver Failure/*etiology
    Reye Syndrome/*diagnosis
    Acute Disease ; Ankle Injuries/complications ; Arthralgia/etiology ; Aspirin/adverse effects ; Child ; Diagnosis, Differential ; Fatigue/etiology ; Female ; Hemorrhagic Disorders/etiology ; Humans ; Hypoglycemia/etiology ; Hypotension/etiology ; Lactulose/therapeutic use ; Liver Failure/blood ; Liver Failure/diagnosis ; Reye Syndrome/complications ; Rheumatic Fever/diagnosis ; Vitamin K/therapeutic use
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Measuring teamwork in health care settings: a review of survey instruments.
    Autorzy :
    Valentine MA; Harvard Business School, Boston, MA †Yale University School of Public Health and School of Management, New Haven, CT.
    Nembhard IM
    Edmondson AC
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    Źródło :
    Medical care [Med Care] 2015 Apr; Vol. 53 (4), pp. e16-30.
    Typ publikacji :
    Journal Article; Review; Systematic Review
    MeSH Terms :
    Psychometrics*
    Surveys and Questionnaires*
    Continuity of Patient Care/*organization & administration
    Patient Care Team/*organization & administration
    Quality of Health Care/*organization & administration
    Communication ; Cooperative Behavior ; Group Processes ; Humans ; Reproducibility of Results
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
    Autorzy :
    Izumi K; 1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.
    Nakato R; Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.
    Zhang Z; Center for Biomedical Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Edmondson AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Noon S; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Dulik MC; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Rajagopalan R; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Venditti CP; National Human Genome Research Institute (NHGRI), US National Institutes of Health, Bethesda, Maryland, USA.
    Gripp K; Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA.
    Samanich J; Department of Pediatrics, Division of Genetics, Montefiore Medical Center, Bronx, New York, USA.
    Zackai EH; 1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
    Deardorff MA; 1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
    Clark D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Allen JL; 1] The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. [2] Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Dorsett D; Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri, USA.
    Misulovin Z; Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri, USA.
    Komata M; Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.
    Bando M; Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.
    Kaur M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Katou Y; Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.
    Shirahige K; 1] Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan. [2] Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency, Kawaguchi, Japan.
    Krantz ID; 1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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    Źródło :
    Nature genetics [Nat Genet] 2015 Apr; Vol. 47 (4), pp. 338-44. Date of Electronic Publication: 2015 Mar 02.
    Typ publikacji :
    Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Germ-Line Mutation*
    De Lange Syndrome/*genetics
    Repressor Proteins/*genetics
    Amino Acid Sequence ; Cell Cycle Proteins/metabolism ; Child ; Chromosomal Proteins, Non-Histone/metabolism ; DNA-Directed RNA Polymerases/metabolism ; Female ; Genetic Predisposition to Disease ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Multiprotein Complexes/genetics ; Multiprotein Complexes/metabolism ; Mutation, Missense ; Transcriptional Elongation Factors/genetics ; Transcriptional Elongation Factors/metabolism
    Czasopismo naukowe
    Szczegóły Pełny tekst
    Podgląd okładki
    Tytuł :
    Teaming: an approach to the growing complexities in health care: AOA critical issues.
    Autorzy :
    Nawaz H; Departments of Internal Medicine and Surgery (H.N.) and Division of Orthopaedics and Rehabilitation (T.H.T and K.J.S.), P.O. Box 19679, Southern Illinois University School of Medicine, Springfield, IL 62794-9679. E-mail address for K.J. Saleh: .
    Edmondson AC; Harvard Business School, Harvard University, Morgan Hall, Room 439, Boston, MA 02163.
    Tzeng TH; Departments of Internal Medicine and Surgery (H.N.) and Division of Orthopaedics and Rehabilitation (T.H.T and K.J.S.), P.O. Box 19679, Southern Illinois University School of Medicine, Springfield, IL 62794-9679. E-mail address for K.J. Saleh: .
    Saleh JK; Department of Orthopaedic Surgery, University of California, San Francisco, 500 Parnassus Avenue, MU 320W, San Francisco, CA 94158-0728.
    Bozic KJ; Department of Orthopaedic Surgery, University of California, San Francisco, 500 Parnassus Avenue, MU 320W, San Francisco, CA 94158-0728.
    Saleh KJ; Departments of Internal Medicine and Surgery (H.N.) and Division of Orthopaedics and Rehabilitation (T.H.T and K.J.S.), P.O. Box 19679, Southern Illinois University School of Medicine, Springfield, IL 62794-9679. E-mail address for K.J. Saleh: .
    Pokaż więcej
    Źródło :
    The Journal of bone and joint surgery. American volume [J Bone Joint Surg Am] 2014 Nov 05; Vol. 96 (21), pp. e184.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Orthopedics*
    Patient Care Team*
    Goals ; United States
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Informal Peer Interaction and Practice Type as Predictors of Physician Performance on Maintenance of Certification Examinations.
    Autorzy :
    Valentine MA; Harvard Business School, Harvard University, Boston, Massachusetts2now with Department of Management Science and Engineering, Stanford University, Stanford, California.
    Barsade S; Wharton School, University of Pennsylvania, Philadelphia.
    Edmondson AC; Harvard Business School, Harvard University, Boston, Massachusetts.
    Gal A; Recanati Business School, Tel Aviv University, Tel Aviv, Israel.
    Rhodes R; American Board of Surgery, Philadelphia, Pennsylvania.
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    Źródło :
    JAMA surgery [JAMA Surg] 2014 Jun; Vol. 149 (6), pp. 597-603.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Certification*
    Clinical Competence*
    Educational Measurement*
    Peer Group*
    General Surgery/*education
    General Surgery/*standards
    Adult ; Aged ; Female ; Group Practice ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Private Practice ; Specialty Boards ; United States
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.
    Autorzy :
    Strong A; Institute for Translational Medicine and Therapeutics, Cardiovascular Institute, and Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
    Ding Q
    Edmondson AC
    Millar JS
    Sachs KV
    Li X
    Kumaravel A
    Wang MY
    Ai D
    Guo L
    Alexander ET
    Nguyen D
    Lund-Katz S
    Phillips MC
    Morales CR
    Tall AR
    Kathiresan S
    Fisher EA
    Musunuru K
    Rader DJ
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    Źródło :
    The Journal of clinical investigation [J Clin Invest] 2012 Aug; Vol. 122 (8), pp. 2807-16. Date of Electronic Publication: 2012 Jul 02.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Adaptor Proteins, Vesicular Transport/*metabolism
    Apolipoproteins B/*metabolism
    Lipoproteins, LDL/*metabolism
    Liver/*metabolism
    APOBEC-1 Deaminase ; Adaptor Proteins, Vesicular Transport/genetics ; Animals ; Apolipoproteins B/genetics ; Base Sequence ; Cell Line ; Cytidine Deaminase/deficiency ; Cytidine Deaminase/genetics ; DNA Primers/genetics ; Humans ; Hydrogen-Ion Concentration ; Kinetics ; Lipoproteins, VLDL/metabolism ; Lysosomes/metabolism ; Mice ; Mice, Knockout ; Mice, Transgenic ; Models, Biological ; Mutagenesis, Site-Directed ; Receptors, LDL/deficiency ; Receptors, LDL/genetics ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    Autorzy :
    Dastani Z; Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada.
    Hivert MF
    Timpson N
    Perry JR
    Yuan X
    Scott RA
    Henneman P
    Heid IM
    Kizer JR
    Lyytikäinen LP
    Fuchsberger C
    Tanaka T
    Morris AP
    Small K
    Isaacs A
    Beekman M
    Coassin S
    Lohman K
    Qi L
    Kanoni S
    Pankow JS
    Uh HW
    Wu Y
    Bidulescu A
    Rasmussen-Torvik LJ
    Greenwood CM
    Ladouceur M
    Grimsby J
    Manning AK
    Liu CT
    Kooner J
    Mooser VE
    Vollenweider P
    Kapur KA
    Chambers J
    Wareham NJ
    Langenberg C
    Frants R
    Willems-Vandijk K
    Oostra BA
    Willems SM
    Lamina C
    Winkler TW
    Psaty BM
    Tracy RP
    Brody J
    Chen I
    Viikari J
    Kähönen M
    Pramstaller PP
    Evans DM
    St Pourcain B
    Sattar N
    Wood AR
    Bandinelli S
    Carlson OD
    Egan JM
    Böhringer S
    van Heemst D
    Kedenko L
    Kristiansson K
    Nuotio ML
    Loo BM
    Harris T
    Garcia M
    Kanaya A
    Haun M
    Klopp N
    Wichmann HE
    Deloukas P
    Katsareli E
    Couper DJ
    Duncan BB
    Kloppenburg M
    Adair LS
    Borja JB
    Wilson JG
    Musani S
    Guo X
    Johnson T
    Semple R
    Teslovich TM
    Allison MA
    Redline S
    Buxbaum SG
    Mohlke KL
    Meulenbelt I
    Ballantyne CM
    Dedoussis GV
    Hu FB
    Liu Y
    Paulweber B
    Spector TD
    Slagboom PE
    Ferrucci L
    Jula A
    Perola M
    Raitakari O
    Florez JC
    Salomaa V
    Eriksson JG
    Frayling TM
    Hicks AA
    Lehtimäki T
    Smith GD
    Siscovick DS
    Kronenberg F
    van Duijn C
    Loos RJ
    Waterworth DM
    Meigs JB
    Dupuis J
    Richards JB
    Voight BF
    Scott LJ
    Steinthorsdottir V
    Dina C
    Welch RP
    Zeggini E
    Huth C
    Aulchenko YS
    Thorleifsson G
    McCulloch LJ
    Ferreira T
    Grallert H
    Amin N
    Wu G
    Willer CJ
    Raychaudhuri S
    McCarroll SA
    Hofmann OM
    Segrè AV
    van Hoek M
    Navarro P
    Ardlie K
    Balkau B
    Benediktsson R
    Bennett AJ
    Blagieva R
    Boerwinkle E
    Bonnycastle LL
    Boström KB
    Bravenboer B
    Bumpstead S
    Burtt NP
    Charpentier G
    Chines PS
    Cornelis M
    Crawford G
    Doney AS
    Elliott KS
    Elliott AL
    Erdos MR
    Fox CS
    Franklin CS
    Ganser M
    Gieger C
    Grarup N
    Green T
    Griffin S
    Groves CJ
    Guiducci C
    Hadjadj S
    Hassanali N
    Herder C
    Isomaa B
    Jackson AU
    Johnson PR
    Jørgensen T
    Kao WH
    Kong A
    Kraft P
    Kuusisto J
    Lauritzen T
    Li M
    Lieverse A
    Lindgren CM
    Lyssenko V
    Marre M
    Meitinger T
    Midthjell K
    Morken MA
    Narisu N
    Nilsson P
    Owen KR
    Payne F
    Petersen AK
    Platou C
    Proença C
    Prokopenko I
    Rathmann W
    Rayner NW
    Robertson NR
    Rocheleau G
    Roden M
    Sampson MJ
    Saxena R
    Shields BM
    Shrader P
    Sigurdsson G
    Sparsø T
    Strassburger K
    Stringham HM
    Sun Q
    Swift AJ
    Thorand B
    Tichet J
    Tuomi T
    van Dam RM
    van Haeften TW
    van Herpt T
    van Vliet-Ostaptchouk JV
    Walters GB
    Weedon MN
    Wijmenga C
    Witteman J
    Bergman RN
    Cauchi S
    Collins FS
    Gloyn AL
    Gyllensten U
    Hansen T
    Hide WA
    Hitman GA
    Hofman A
    Hunter DJ
    Hveem K
    Laakso M
    Morris AD
    Palmer CN
    Rudan I
    Sijbrands E
    Stein LD
    Tuomilehto J
    Uitterlinden A
    Walker M
    Watanabe RM
    Abecasis GR
    Boehm BO
    Campbell H
    Daly MJ
    Hattersley AT
    Pedersen O
    Barroso I
    Groop L
    Sladek R
    Thorsteinsdottir U
    Wilson JF
    Illig T
    Froguel P
    van Duijn CM
    Stefansson K
    Altshuler D
    Boehnke M
    McCarthy MI
    Soranzo N
    Wheeler E
    Glazer NL
    Bouatia-Naji N
    Mägi R
    Randall J
    Elliott P
    Rybin D
    Dehghan A
    Hottenga JJ
    Song K
    Goel A
    Lajunen T
    Doney A
    Cavalcanti-Proença C
    Kumari M
    Timpson NJ
    Zabena C
    Ingelsson E
    An P
    O'Connell J
    Luan J
    Elliott A
    McCarroll SA
    Roccasecca RM
    Pattou F
    Sethupathy P
    Ariyurek Y
    Barter P
    Beilby JP
    Ben-Shlomo Y
    Bergmann S
    Bochud M
    Bonnefond A
    Borch-Johnsen K
    Böttcher Y
    Brunner E
    Bumpstead SJ
    Chen YD
    Chines P
    Clarke R
    Coin LJ
    Cooper MN
    Crisponi L
    Day IN
    de Geus EJ
    Delplanque J
    Fedson AC
    Fischer-Rosinsky A
    Forouhi NG
    Franzosi MG
    Galan P
    Goodarzi MO
    Graessler J
    Grundy S
    Gwilliam R
    Hallmans G
    Hammond N
    Han X
    Hartikainen AL
    Hayward C
    Heath SC
    Hercberg S
    Hillman DR
    Hingorani AD
    Hui J
    Hung J
    Kaakinen M
    Kaprio J
    Kesaniemi YA
    Kivimaki M
    Knight B
    Koskinen S
    Kovacs P
    Kyvik KO
    Lathrop GM
    Lawlor DA
    Le Bacquer O
    Lecoeur C
    Li Y
    Mahley R
    Mangino M
    Martínez-Larrad MT
    McAteer JB
    McPherson R
    Meisinger C
    Melzer D
    Meyre D
    Mitchell BD
    Mukherjee S
    Naitza S
    Neville MJ
    Orrù M
    Pakyz R
    Paolisso G
    Pattaro C
    Pearson D
    Peden JF
    Pedersen NL
    Pfeiffer AF
    Pichler I
    Polasek O
    Posthuma D
    Potter SC
    Pouta A
    Province MA
    Rayner NW
    Rice K
    Ripatti S
    Rivadeneira F
    Rolandsson O
    Sandbaek A
    Sandhu M
    Sanna S
    Sayer AA
    Scheet P
    Seedorf U
    Sharp SJ
    Shields B
    Sigurðsson G
    Sijbrands EJ
    Silveira A
    Simpson L
    Singleton A
    Smith NL
    Sovio U
    Swift A
    Syddall H
    Syvänen AC
    Tönjes A
    Uitterlinden AG
    van Dijk KW
    Varma D
    Visvikis-Siest S
    Vitart V
    Vogelzangs N
    Waeber G
    Wagner PJ
    Walley A
    Ward KL
    Watkins H
    Wild SH
    Willemsen G
    Witteman JC
    Yarnell JW
    Zelenika D
    Zethelius B
    Zhai G
    Zhao JH
    Zillikens MC
    Borecki IB
    Meneton P
    Magnusson PK
    Nathan DM
    Williams GH
    Silander K
    Bornstein SR
    Schwarz P
    Spranger J
    Karpe F
    Shuldiner AR
    Cooper C
    Serrano-Ríos M
    Lind L
    Palmer LJ
    Hu FB 1st
    Franks PW
    Ebrahim S
    Marmot M
    Kao WH
    Pramstaller PP
    Wright AF
    Stumvoll M
    Hamsten A
    Buchanan TA
    Valle TT
    Rotter JI
    Penninx BW
    Boomsma DI
    Cao A
    Scuteri A
    Schlessinger D
    Uda M
    Ruokonen A
    Jarvelin MR
    Peltonen L
    Mooser V
    Sladek R
    Musunuru K
    Smith AV
    Edmondson AC
    Stylianou IM
    Koseki M
    Pirruccello JP
    Chasman DI
    Johansen CT
    Fouchier SW
    Peloso GM
    Barbalic M
    Ricketts SL
    Bis JC
    Feitosa MF
    Orho-Melander M
    Melander O
    Li X
    Li M
    Cho YS
    Go MJ
    Kim YJ
    Lee JY
    Park T
    Kim K
    Sim X
    Ong RT
    Croteau-Chonka DC
    Lange LA
    Smith JD
    Ziegler A
    Zhang W
    Zee RY
    Whitfield JB
    Thompson JR
    Surakka I
    Spector TD
    Smit JH
    Sinisalo J
    Scott J
    Saharinen J
    Sabatti C
    Rose LM
    Roberts R
    Rieder M
    Parker AN
    Pare G
    O'Donnell CJ
    Nieminen MS
    Nickerson DA
    Montgomery GW
    McArdle W
    Masson D
    Martin NG
    Marroni F
    Lucas G
    Luben R
    Lokki ML
    Lettre G
    Launer LJ
    Lakatta EG
    Laaksonen R
    Kyvik KO
    König IR
    Khaw KT
    Kaplan LM
    Johansson Å
    Janssens AC
    Igl W
    Hovingh GK
    Hengstenberg C
    Havulinna AS
    Hastie ND
    Harris TB
    Haritunians T
    Hall AS
    Groop LC
    Gonzalez E
    Freimer NB
    Erdmann J
    Ejebe KG
    Döring A
    Dominiczak AF
    Demissie S
    Deloukas P
    de Faire U
    Crawford G
    Chen YD
    Caulfield MJ
    Boekholdt SM
    Assimes TL
    Quertermous T
    Seielstad M
    Wong TY
    Tai ES
    Feranil AB
    Kuzawa CW
    Taylor HA Jr
    Gabriel SB
    Holm H
    Gudnason V
    Krauss RM
    Ordovas JM
    Munroe PB
    Kooner JS
    Tall AR
    Hegele RA
    Kastelein JJ
    Schadt EE
    Strachan DP
    Reilly MP
    Samani NJ
    Schunkert H
    Cupples LA
    Sandhu MS
    Ridker PM
    Rader DJ
    Kathiresan S
    Pokaż więcej
    Corporate Authors :
    DIAGRAM+ Consortium
    MAGIC Consortium
    GLGC Investigators
    MuTHER Consortium
    DIAGRAM Consortium
    GIANT Consortium
    Global B Pgen Consortium
    Procardis Consortium
    MAGIC investigators
    GLGC Consortium
    Źródło :
    PLoS genetics [PLoS Genet] 2012; Vol. 8 (3), pp. e1002607. Date of Electronic Publication: 2012 Mar 29.
    Typ publikacji :
    Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Genome-Wide Association Study*
    Adiponectin/*blood
    Diabetes Mellitus, Type 2/*genetics
    Adiponectin/genetics ; African Americans ; Asian Continental Ancestry Group ; Cholesterol, HDL/genetics ; European Continental Ancestry Group ; Female ; Gene Expression ; Genetic Predisposition to Disease ; Glucose Tolerance Test ; Humans ; Insulin Resistance/genetics ; Male ; Metabolic Networks and Pathways ; Polymorphism, Single Nucleotide ; Waist-Hip Ratio
    Czasopismo naukowe
    Szczegóły Pełny tekst
    Podgląd okładki
    Tytuł :
    Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.
    Autorzy :
    Khetarpal SA; Institute for Translational Medicine and Therapeutics, Institute for Diabetes, Obesity, and Metabolism, and Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.
    Edmondson AC
    Raghavan A
    Neeli H
    Jin W
    Badellino KO
    Demissie S
    Manning AK
    DerOhannessian SL
    Wolfe ML
    Cupples LA
    Li M
    Kathiresan S
    Rader DJ
    Pokaż więcej
    Źródło :
    PLoS genetics [PLoS Genet] 2011 Dec; Vol. 7 (12), pp. e1002393. Date of Electronic Publication: 2011 Dec 08.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Cholesterol, HDL/*genetics
    Cholesterol, HDL/*metabolism
    Lipase/*genetics
    Lipase/*metabolism
    Lipid Metabolism/*genetics
    5' Untranslated Regions ; Adult ; Aged ; Alleles ; Cholesterol, HDL/blood ; Female ; Gene Expression ; Gene Frequency ; Genes, Regulator/genetics ; Genome-Wide Association Study ; Genotype ; Haplotypes/genetics ; High-Throughput Nucleotide Sequencing ; Human Umbilical Vein Endothelial Cells ; Humans ; Lipase/blood ; Male ; Middle Aged ; Mutagenesis, Site-Directed ; Phenotype ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic
    Czasopismo naukowe
    Szczegóły Pełny tekst
    Podgląd okładki
    Tytuł :
    Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.
    Autorzy :
    Wang K; Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA.
    Edmondson AC
    Li M
    Gao F
    Qasim AN
    Devaney JM
    Burnett MS
    Waterworth DM
    Mooser V
    Grant SF
    Epstein SE
    Reilly MP
    Hakonarson H
    Rader DJ
    Pokaż więcej
    Źródło :
    Frontiers in genetics [Front Genet] 2011 Jul 05; Vol. 2, pp. 41. Date of Electronic Publication: 2011 Jul 05 (Print Publication: 2011).
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.
    Autorzy :
    Edmondson AC; Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6160, USA.
    Braund PS
    Stylianou IM
    Khera AV
    Nelson CP
    Wolfe ML
    Derohannessian SL
    Keating BJ
    Qu L
    He J
    Tobin MD
    Tomaszewski M
    Baumert J
    Klopp N
    Döring A
    Thorand B
    Li M
    Reilly MP
    Koenig W
    Samani NJ
    Rader DJ
    Pokaż więcej
    Źródło :
    Circulation. Cardiovascular genetics [Circ Cardiovasc Genet] 2011 Apr; Vol. 4 (2), pp. 145-55. Date of Electronic Publication: 2011 Feb 08.
    Typ publikacji :
    Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Genetic Loci*
    Cholesterol, HDL/*genetics
    Adult ; Aged ; Case-Control Studies ; Cholesterol, HDL/blood ; Cohort Studies ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Polymorphism, Single Nucleotide
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Gene-based interaction analysis by incorporating external linkage disequilibrium information.
    Autorzy :
    He J; Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
    Wang K
    Edmondson AC
    Rader DJ
    Li C
    Li M
    Pokaż więcej
    Źródło :
    European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Feb; Vol. 19 (2), pp. 164-72. Date of Electronic Publication: 2010 Oct 06.
    Typ publikacji :
    Evaluation Study; Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms :
    Genetic Markers/*genetics
    Genome-Wide Association Study/*methods
    Linkage Disequilibrium/*genetics
    Quantitative Trait Loci/*genetics
    Cholesterol Ester Transfer Proteins/genetics ; Cholesterol, HDL/genetics ; Cholesterol, HDL/metabolism ; Computer Simulation ; Genetic Predisposition to Disease ; Genome, Human ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Principal Component Analysis ; Software ; Transaminases/genetics
    Czasopismo naukowe
    Szczegóły Pełny tekst
    Podgląd okładki
    Tytuł :
    Biological, clinical and population relevance of 95 loci for blood lipids.
    Autorzy :
    Teslovich TM; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.
    Musunuru K
    Smith AV
    Edmondson AC
    Stylianou IM
    Koseki M
    Pirruccello JP
    Ripatti S
    Chasman DI
    Willer CJ
    Johansen CT
    Fouchier SW
    Isaacs A
    Peloso GM
    Barbalic M
    Ricketts SL
    Bis JC
    Aulchenko YS
    Thorleifsson G
    Feitosa MF
    Chambers J
    Orho-Melander M
    Melander O
    Johnson T
    Li X
    Guo X
    Li M
    Shin Cho Y
    Jin Go M
    Jin Kim Y
    Lee JY
    Park T
    Kim K
    Sim X
    Twee-Hee Ong R
    Croteau-Chonka DC
    Lange LA
    Smith JD
    Song K
    Hua Zhao J
    Yuan X
    Luan J
    Lamina C
    Ziegler A
    Zhang W
    Zee RY
    Wright AF
    Witteman JC
    Wilson JF
    Willemsen G
    Wichmann HE
    Whitfield JB
    Waterworth DM
    Wareham NJ
    Waeber G
    Vollenweider P
    Voight BF
    Vitart V
    Uitterlinden AG
    Uda M
    Tuomilehto J
    Thompson JR
    Tanaka T
    Surakka I
    Stringham HM
    Spector TD
    Soranzo N
    Smit JH
    Sinisalo J
    Silander K
    Sijbrands EJ
    Scuteri A
    Scott J
    Schlessinger D
    Sanna S
    Salomaa V
    Saharinen J
    Sabatti C
    Ruokonen A
    Rudan I
    Rose LM
    Roberts R
    Rieder M
    Psaty BM
    Pramstaller PP
    Pichler I
    Perola M
    Penninx BW
    Pedersen NL
    Pattaro C
    Parker AN
    Pare G
    Oostra BA
    O'Donnell CJ
    Nieminen MS
    Nickerson DA
    Montgomery GW
    Meitinger T
    McPherson R
    McCarthy MI
    McArdle W
    Masson D
    Martin NG
    Marroni F
    Mangino M
    Magnusson PK
    Lucas G
    Luben R
    Loos RJ
    Lokki ML
    Lettre G
    Langenberg C
    Launer LJ
    Lakatta EG
    Laaksonen R
    Kyvik KO
    Kronenberg F
    König IR
    Khaw KT
    Kaprio J
    Kaplan LM
    Johansson A
    Jarvelin MR
    Janssens AC
    Ingelsson E
    Igl W
    Kees Hovingh G
    Hottenga JJ
    Hofman A
    Hicks AA
    Hengstenberg C
    Heid IM
    Hayward C
    Havulinna AS
    Hastie ND
    Harris TB
    Haritunians T
    Hall AS
    Gyllensten U
    Guiducci C
    Groop LC
    Gonzalez E
    Gieger C
    Freimer NB
    Ferrucci L
    Erdmann J
    Elliott P
    Ejebe KG
    Döring A
    Dominiczak AF
    Demissie S
    Deloukas P
    de Geus EJ
    de Faire U
    Crawford G
    Collins FS
    Chen YD
    Caulfield MJ
    Campbell H
    Burtt NP
    Bonnycastle LL
    Boomsma DI
    Boekholdt SM
    Bergman RN
    Barroso I
    Bandinelli S
    Ballantyne CM
    Assimes TL
    Quertermous T
    Altshuler D
    Seielstad M
    Wong TY
    Tai ES
    Feranil AB
    Kuzawa CW
    Adair LS
    Taylor HA Jr
    Borecki IB
    Gabriel SB
    Wilson JG
    Holm H
    Thorsteinsdottir U
    Gudnason V
    Krauss RM
    Mohlke KL
    Ordovas JM
    Munroe PB
    Kooner JS
    Tall AR
    Hegele RA
    Kastelein JJ
    Schadt EE
    Rotter JI
    Boerwinkle E
    Strachan DP
    Mooser V
    Stefansson K
    Reilly MP
    Samani NJ
    Schunkert H
    Cupples LA
    Sandhu MS
    Ridker PM
    Rader DJ
    van Duijn CM
    Peltonen L
    Abecasis GR
    Boehnke M
    Kathiresan S
    Pokaż więcej
    Źródło :
    Nature [Nature] 2010 Aug 05; Vol. 466 (7307), pp. 707-13.
    Typ publikacji :
    Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Genome-Wide Association Study*
    Genetic Loci/*genetics
    Lipid Metabolism/*genetics
    Lipids/*blood
    African Americans/genetics ; Animals ; Asian Continental Ancestry Group/genetics ; Cholesterol, HDL/blood ; Cholesterol, LDL/blood ; Coronary Artery Disease/blood ; Coronary Artery Disease/genetics ; Coronary Artery Disease/therapy ; Europe/ethnology ; European Continental Ancestry Group/genetics ; Female ; Genotype ; Humans ; Liver/metabolism ; Male ; Mice ; N-Acetylgalactosaminyltransferases/genetics ; N-Acetylgalactosaminyltransferases/metabolism ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Protein Phosphatase 1/genetics ; Protein Phosphatase 1/metabolism ; Reproducibility of Results ; Triglycerides/blood
    Czasopismo naukowe
    Szczegóły Pełny tekst
    Podgląd okładki
    Tytuł :
    p130Cas substrate domain signaling promotes migration, invasion, and survival of estrogen receptor-negative breast cancer cells.
    Autorzy :
    Cunningham-Edmondson AC; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA ; Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta, GA, USA.
    Hanks SK; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA.
    Pokaż więcej
    Źródło :
    Breast cancer (Dove Medical Press) [Breast Cancer (Dove Med Press)] 2009 Dec 07; Vol. 1, pp. 39-52. Date of Electronic Publication: 2009 Dec 07 (Print Publication: 2009).
    Typ publikacji :
    Journal Article
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis.
    Autorzy :
    Brown RJ; Department of Medicine and Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104.
    Edmondson AC
    Griffon N
    Hill TB
    Fuki IV
    Badellino KO
    Li M
    Wolfe ML
    Reilly MP
    Rader DJ
    Pokaż więcej
    Źródło :
    Journal of lipid research [J Lipid Res] 2009 Sep; Vol. 50 (9), pp. 1910-6. Date of Electronic Publication: 2009 May 03.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Mutation*
    Cholesterol, HDL/*biosynthesis
    Cholesterol, HDL/*metabolism
    Lipase/*genetics
    Lipase/*metabolism
    Mutant Proteins/*genetics
    Mutant Proteins/*metabolism
    African Americans/genetics ; Animals ; Biocatalysis ; Cell Line ; Cholesterol, HDL/blood ; Female ; Gene Expression Regulation, Enzymologic ; Humans ; Lipase/chemistry ; Male ; Middle Aged ; Mutant Proteins/chemistry
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations.
    Autorzy :
    Jensen MK; Department of Clinical Epidemiology, Aarhus University Hospital, Aalborg, Denmark. />Rimm EB
    Mukamal KJ
    Edmondson AC
    Rader DJ
    Vogel U
    Tjønneland A
    Sørensen TI
    Schmidt EB
    Overvad K
    Pokaż więcej
    Źródło :
    European heart journal [Eur Heart J] 2009 Jul; Vol. 30 (13), pp. 1584-9. Date of Electronic Publication: 2009 May 02.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Coronary Disease/*genetics
    Lipase/*genetics
    Adult ; Aged ; Case-Control Studies ; Cholesterol, HDL/blood ; Coronary Disease/blood ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Humans ; Lipids/blood ; Male ; Middle Aged ; Risk Factors
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
    Autorzy :
    Edmondson AC; Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6160, USA.
    Brown RJ
    Kathiresan S
    Cupples LA
    Demissie S
    Manning AK
    Jensen MK
    Rimm EB
    Wang J
    Rodrigues A
    Bamba V
    Khetarpal SA
    Wolfe ML
    Derohannessian S
    Li M
    Reilly MP
    Aberle J
    Evans D
    Hegele RA
    Rader DJ
    Pokaż więcej
    Źródło :
    The Journal of clinical investigation [J Clin Invest] 2009 Apr; Vol. 119 (4), pp. 1042-50. Date of Electronic Publication: 2009 Mar 16.
    Typ publikacji :
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Genetic Variation*
    Cholesterol, HDL/*blood
    Lipase/*deficiency
    Lipase/*genetics
    Adult ; Aged ; Amino Acid Substitution ; Animals ; Atherosclerosis/blood ; Atherosclerosis/enzymology ; Atherosclerosis/etiology ; Atherosclerosis/genetics ; Cohort Studies ; Cross-Sectional Studies ; Exons ; Female ; Humans ; Lipase/chemistry ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Middle Aged ; Mutation ; Polymorphism, Single Nucleotide ; Sequence Deletion
    Czasopismo naukowe
    Szczegóły
    Podgląd okładki
    Tytuł :
    Genome-wide approaches to finding novel genes for lipid traits: the start of a long road.
    Autorzy :
    Edmondson AC
    Rader DJ
    Pokaż więcej
    Źródło :
    Circulation. Cardiovascular genetics [Circ Cardiovasc Genet] 2008 Oct; Vol. 1 (1), pp. 3-6.
    Typ publikacji :
    Editorial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms :
    Quantitative Trait, Heritable*
    Genome-Wide Association Study/*methods
    Lipid Metabolism/*genetics
    Animals ; Cardiovascular Diseases/drug therapy ; Cardiovascular Diseases/genetics ; Humans ; Lipoproteins/metabolism ; Risk Factors
    Raport
    Szczegóły
    Podgląd okładki
    Tytuł :
    The competitive imperative of learning.
    Autorzy :
    Edmondson AC; Harvard Bussiness School, Boston, USA.
    Pokaż więcej
    Źródło :
    Harvard business review [Harv Bus Rev] 2008 Jul-Aug; Vol. 86 (7-8), pp. 60-7, 160.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Delivery of Health Care, Integrated/*organization & administration
    Inservice Training/*methods
    Personnel Management/*methods
    Decision Making ; Efficiency, Organizational ; Humans ; Motivation ; Outcome and Process Assessment, Health Care ; Planning Techniques ; Problem Solving ; Psychology, Industrial ; Safety ; Social Responsibility ; Time Management
    Czasopismo naukowe
    Szczegóły Pełny tekst Pełny tekst
    Podgląd okładki
    Tytuł :
    Is yours a learning organization?
    Autorzy :
    Garvin DA; Harvard Business School, Boston, USA. />Edmondson AC
    Gino F
    Pokaż więcej
    Źródło :
    Harvard business review [Harv Bus Rev] 2008 Mar; Vol. 86 (3), pp. 109-16, 134.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Leadership*
    Learning*
    Staff Development/*methods
    Humans ; Organizational Objectives ; Personnel Management ; Planning Techniques ; United States
    Czasopismo naukowe
    Szczegóły Pełny tekst Pełny tekst
    Podgląd okładki
    Tytuł :
    Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
    Autorzy :
    Keating BJ; The Institute for Translational Medicine and Therapeutics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvannia, USA.
    Tischfield S
    Murray SS
    Bhangale T
    Price TS
    Glessner JT
    Galver L
    Barrett JC
    Grant SF
    Farlow DN
    Chandrupatla HR
    Hansen M
    Ajmal S
    Papanicolaou GJ
    Guo Y
    Li M
    Derohannessian S
    de Bakker PI
    Bailey SD
    Montpetit A
    Edmondson AC
    Taylor K
    Gai X
    Wang SS
    Fornage M
    Shaikh T
    Groop L
    Boehnke M
    Hall AS
    Hattersley AT
    Frackelton E
    Patterson N
    Chiang CW
    Kim CE
    Fabsitz RR
    Ouwehand W
    Price AL
    Munroe P
    Caulfield M
    Drake T
    Boerwinkle E
    Reich D
    Whitehead AS
    Cappola TP
    Samani NJ
    Lusis AJ
    Schadt E
    Wilson JG
    Koenig W
    McCarthy MI
    Kathiresan S
    Gabriel SB
    Hakonarson H
    Anand SS
    Reilly M
    Engert JC
    Nickerson DA
    Rader DJ
    Hirschhorn JN
    Fitzgerald GA
    Pokaż więcej
    Źródło :
    PloS one [PLoS One] 2008; Vol. 3 (10), pp. e3583. Date of Electronic Publication: 2008 Oct 31.
    Typ publikacji :
    Evaluation Study; Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms :
    Polymorphism, Single Nucleotide*
    Cardiovascular Diseases/*genetics
    Genome-Wide Association Study/*methods
    Oligonucleotide Array Sequence Analysis/*methods
    Cardiovascular Diseases/ethnology ; Concept Formation ; Gene Frequency ; Genome-Wide Association Study/instrumentation ; Genotype ; Humans ; Population Groups/genetics ; Quality Control ; Research Design
    Czasopismo naukowe
    Szczegóły Pełny tekst
    Podgląd okładki
    Tytuł :
    Organizational learning in health care.
    Autorzy :
    Bohmer RM; Harvard Business School, Boston, USA.
    Edmondson AC
    Pokaż więcej
    Źródło :
    Health Forum journal [Health Forum J] 2001 Mar-Apr; Vol. 44 (2), pp. 32-5.
    Typ publikacji :
    Journal Article
    MeSH Terms :
    Leadership*
    Learning*
    Organizational Culture*
    Staff Development*
    Delivery of Health Care/*organization & administration
    Education, Continuing ; Hospital Administration ; Humans ; Professional Competence ; United States
    Czasopismo naukowe
    Szczegóły
      Wyświetlanie 1-81 z 81

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