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Wyświetlanie 1-81 z 81
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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. .
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Źródło :
JIMD reports [JIMD Rep] 2017; Vol. 33, pp. 109-110.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
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
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
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
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
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
Pokaż więcej
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
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
Pokaż więcej
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
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
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: .
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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