OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

Autor: Shrimpton, AE, Hoopes, RR, Knohl, SJ, Hueber, P, Reed, AA, Christie, PT, Igarashi, T, Lee, P, Lehman, A, White, C, Milford, DV, Sanchez, MR, Unwin, R, Wrong, OM, Thakker, RV, Scheinman, SJ

BACKGROUND/AIMS: Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the oculocerebrorenal syndrome of Lowe. METHODS: Dent patients with normal sequence for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5472fe037beb00fcd55845e43418aecb
https://ora.ox.ac.uk/objects/uuid:2c306a04-d359-4384-8bdc-eb1186bec8fa

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

EDUCATE: An international, randomized controlled trial for teaching electrocardiography.

Autor: Kashou AH; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: kashou.anthony@mayo.edu., Noseworthy PA; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA., Beckman TJ; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA., Anavekar NS; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA., Cullen MW; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA., Angstman KB; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA., Sandefur BJ; Department of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA., Shapiro BP; Mayo Clinic, Jacksonville, FL, USA., Wiley BW; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Kates AM; Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Sadhu J; Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Thakker P; Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Huneycutt D; HCA Healthcare, Nashville, TN, USA., Braisted A; HCA Healthcare, Nashville, TN, USA., Smith SW; Hennepin County Medical Center and University of Minnesota, Minneapolis, MN, USA., Baranchuk A; Queen's University, Kingston, ON, Canada., Grauer K; University of Florida, Gainesville, FL, USA., O'Brien K; University of South Florida, Tampa, FL, USA., Kaul V; SUNY Upstate Medical University, Syracuse, NY, USA., Gambhir HS; SUNY Upstate Medical University, Syracuse, NY, USA., Knohl SJ; SUNY Upstate Medical University, Syracuse, NY, USA., Restrepo D; Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., May AM; Washington University School of Medicine in St. Louis, St. Louis, MO, USA.

Publikováno v: Current problems in cardiology [Curr Probl Cardiol] 2024 Mar; Vol. 49 (3), pp. 102409. Date of Electronic Publication: 2024 Jan 15.

Impact of Computer-Interpreted ECGs on the Accuracy of Healthcare Professionals.

Autor: Kashou AH; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN. Electronic address: kashou.anthony@mayo.edu., Noseworthy PA; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Beckman TJ; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Anavekar NS; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Cullen MW; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Angstman KB; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Sandefur BJ; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Shapiro BP; Mayo Clinic, Jacksonville, FL., Wiley BW; Keck School of Medicine, University of Southern California, Los Angeles CA., Kates AM; Washington University School of Medicine in St. Louis, St. Louis, MO., Huneycutt D; HCA Healthcare, Nashville, TN., Braisted A; HCA Healthcare, Nashville, TN., Manoukian SV; HCA Healthcare, Nashville, TN., Kerwin S; GE HealthCare, Wauwatosa, WI., Young B; GE HealthCare, Wauwatosa, WI., Rowlandson I; GE HealthCare, Wauwatosa, WI., Beard JW; GE HealthCare, Wauwatosa, WI., Baranchuk A; Queen's University, Kingston, Ontario, Canada., O'Brien K; University of South Florida, Tampa, FL., Knohl SJ; SUNY Upstate Medical University, Syracuse, NY., May AM; Washington University School of Medicine in St. Louis, St. Louis, MO.

Publikováno v: Current problems in cardiology [Curr Probl Cardiol] 2023 Nov; Vol. 48 (11), pp. 101989. Date of Electronic Publication: 2023 Jul 22.