Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Guenzel AJ"'
Autor:
Zhagnay J, Michael A. Barry, M. Nedergaard, Guenzel Aj, Michael Chen, Cotrina Ml, James E. Goldman, Wei Sun
Propionic acidemia (PA) is an inborn error of metabolism (IEM) caused by mutations in the enzyme propionyl CoA carboxylase (PCC). It is characterized by the inability to break down branched chain amino acids and odd chain fatty acids, causing a build
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bc400ea67850b6bf687db35e68a1958
https://doi.org/10.1101/2021.02.07.428966
https://doi.org/10.1101/2021.02.07.428966
Autor:
Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jul 11. Date of Electronic Publication: 2024 Jul 11.
Autor:
Guenzel AJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Smadbeck JB; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, United States of America., Golden CL; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Williamson CM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Benevides Demasi JC; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Vasmatzis G; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, United States of America., Pearce KE; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Olteanu H; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Xu X; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Hoppman NL; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Greipp PT; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Baughn LB; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Ketterling RP; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Peterson JF; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America. Electronic address: Peterson.Jess@mayo.edu.
Publikováno v:
Annals of diagnostic pathology [Ann Diagn Pathol] 2021 Aug; Vol. 53, pp. 151761. Date of Electronic Publication: 2021 May 10.
Autor:
Guenzel AJ; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Hall PL; Department of Human Genetics Emory University Atlanta Georgia USA., Scott AI; Biochemical Genetics Laboratory Seattle Children's Hospital Seattle Washington USA., Lam C; Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA., Chang IJ; Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA., Thies J; Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA., Ferreira CR; National Human Genome Research Institute (NHGRI) Bethesda Maryland USA., Pichurin P; Division of Clinical Genomics Mayo Clinic Rochester Minnesota USA., Laxen W; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Raymond K; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Gavrilov DK; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Oglesbee D; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Rinaldo P; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Matern D; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA., Tortorelli S; Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA.
Publikováno v:
JIMD reports [JIMD Rep] 2021 Apr 05; Vol. 60 (1), pp. 67-74. Date of Electronic Publication: 2021 Apr 05 (Print Publication: 2021).
Autor:
Guenzel AJ; Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., DeBarber A; Department of Chemical Physiology and Biochemistry Oregon Health and Science University Portland Oregon USA., Raymond K; Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Dhamija R; Department of Clinical Genomics and Neurology Mayo Clinic Scottsdale Arizona USA.
Publikováno v:
JIMD reports [JIMD Rep] 2021 Jan 08; Vol. 59 (1), pp. 3-9. Date of Electronic Publication: 2021 Jan 08 (Print Publication: 2021).
Autor:
Guenzel AJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Turgeon CT; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pino GB; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Studinski AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Prasad VK; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kurtzberg J; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Escolar ML; Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lasio MLD; Department of Pediatrics, Washington University, St. Louis, MO, USA., Pellegrino JE; Department of Pediatrics, Upstate Medical University, Syracuse, NY, USA., Sakonju A; Department of Pediatrics, Upstate Medical University, Syracuse, NY, USA., Hickey RE; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Shallow NM; Vanderbilt University Medical Center, Nashville, TN, USA., Ream MA; Nationwide Children's Hospital, Columbus, OH, USA., Orsini JJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA, USA., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Gavrilov DK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. matern@mayo.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jun; Vol. 22 (6), pp. 1108-1118. Date of Electronic Publication: 2020 Feb 24.
Autor:
Fulgencio-Covián A; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Alonso-Barroso E; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Guenzel AJ; Mayo Clinic, Rochester, Minnesota., Rivera-Barahona A; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain., Pérez B; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Barry MA; Mayo Clinic, Rochester, Minnesota., Pérez-Cerdá C; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Richard E; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Desviat LR; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address: lruiz@cbm.csic.es.
Publikováno v:
Translational research : the journal of laboratory and clinical medicine [Transl Res] 2020 Apr; Vol. 218, pp. 43-56. Date of Electronic Publication: 2019 Dec 27.
Autor:
Saiki H; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Moulay G; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Guenzel AJ; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Liu W; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Decklever TD; Division of Nuclear Medicine, Mayo Clinic, Rochester, Minnesota., Classic KL; Division of Medical Physics, Mayo Clinic, Rochester, Minnesota., Pham L; Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota; and., Chen HH; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Burnett JC; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Russell SJ; Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota; and.; Division of Hematology, Mayo Clinic, Rochester, Minnesota., Redfield MM; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota; redfield.margaret@mayo.edu.
Publikováno v:
American journal of physiology. Heart and circulatory physiology [Am J Physiol Heart Circ Physiol] 2017 Aug 01; Vol. 313 (2), pp. H392-H407. Date of Electronic Publication: 2017 May 26.
Autor:
Chaanine AH; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Sreekumaran Nair K; Division of Endocrinology, Mayo Clinic, Rochester, MN., Bergen RH 3rd; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN., Klaus K; Division of Endocrinology, Mayo Clinic, Rochester, MN., Guenzel AJ; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Hajjar RJ; Division of Cardiovascular Diseases, Mount Sinai Icahn School of Medicine, New York, NY., Redfield MM; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN redfield.margaret@mayo.edu.
Publikováno v:
Journal of the American Heart Association [J Am Heart Assoc] 2017 Jun 15; Vol. 6 (6). Date of Electronic Publication: 2017 Jun 15.
Autor:
Chaanine AH; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Kohlbrenner E; Division of Cardiovascular Diseases, Mount Sinai School of Medicine, New York, New York., Gamb SI; Microscopy and Cell Analysis Core, Department of Biochemistry and Cell Biology, Mayo Clinic, Rochester, Minnesota; and., Guenzel AJ; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Klaus K; Division of Endocrinology, Mayo Clinic, Rochester, Minnesota., Fayyaz AU; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota., Nair KS; Division of Endocrinology, Mayo Clinic, Rochester, Minnesota., Hajjar RJ; Division of Cardiovascular Diseases, Mount Sinai School of Medicine, New York, New York., Redfield MM; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota; redfield.margaret@mayo.edu.
Publikováno v:
American journal of physiology. Heart and circulatory physiology [Am J Physiol Heart Circ Physiol] 2016 Dec 01; Vol. 311 (6), pp. H1540-H1559. Date of Electronic Publication: 2016 Sep 30.