Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Edmondson AC"" wg kryterium: Autor


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.
Pokaż więcej
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.
Pokaż więcej
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: .
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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: .
Pokaż więcej
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.
Pokaż więcej
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. .
Pokaż więcej
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.
Pokaż więcej
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. .
Pokaż więcej
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.
Pokaż więcej
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. .
Pokaż więcej
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. .
Pokaż więcej
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.
Pokaż więcej
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

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies