Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gee, Heon Yung"'
Autor:
Schueler M; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Halbritter J; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Divison of Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig, Germany., Phelps IG; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Braun DA; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Otto EA; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA., Porath JD; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Gee HY; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Shendure J; University of Washington, Genome Sciences, Seattle, Washington, USA., O'Roak BJ; Oregon Health and Science University, Molecular and Medical Genetics, Portland, Oregon, USA., Lawson JA; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Nabhan MM; Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt., Soliman NA; Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt., Doherty D; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Hildebrandt F; Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Publikováno v:
Journal of medical genetics [J Med Genet] 2016 Mar; Vol. 53 (3), pp. 208-14. Date of Electronic Publication: 2015 Dec 16.
Autor:
Schueler M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chandrasekar G; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Huddinge, Sweden., Gee HY; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Klasson TD; Department of Nephrology and Hypertension, University Medical Center Utrecht, 3584CX Utrecht, the Netherlands., Halbritter J; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bieder A; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Huddinge, Sweden., Porath JD; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Airik R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Zhou W; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA., LoTurco JJ; Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT 06269, USA., Che A; Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT 06269, USA., Otto EA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA., Böckenhauer D; University College London, Institute of Child Health and Pediatric Nephrology, Great Ormond Street Hospital, London WC1N3JH, UK., Sebire NJ; Department of Histopathology, Great Ormond Street Hospital, London WC1N3JH, UK., Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, Prague 2, 128 08 Czech Republic., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Koon SJ; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Saunier S; Inserm U574 and Department of Genetics, Paris 5 University, Necker Hospital, 75015 Paris, France., Zerres K; Institute of Human Genetics, University Hospital, RWTH Aachen, 52074 Aachen, Germany., Bruechle NO; Institute of Human Genetics, University Hospital, RWTH Aachen, 52074 Aachen, Germany., Drenth JP; Department of Gastroenterology and Hepatology, Radboud UMC, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands., Pelletier L; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada., Tapia-Páez I; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Huddinge, Sweden., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, 3584CX Utrecht, the Netherlands., Kere J; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Huddinge, Sweden; Molecular Neurology Research Program, University of Helsinki, and Folkhälsan Institute of Genetics, 00014 Helsinki, Finland; Science for Life Laboratory, Karolinska Institutet, 171 21 Solna, Sweden. Electronic address: juha.kere@ki.se., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2015 Jan 08; Vol. 96 (1), pp. 81-92. Date of Electronic Publication: 2014 Dec 31.
Autor:
Failler M; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Gee HY; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Krug P; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Department of Pediatric Nephrology, Necker Hospital, AP-HP, 75015 Paris, France., Joo K; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Korea., Halbritter J; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Belkacem L; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Filhol E; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Porath JD; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Braun DA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Schueler M; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Frigo A; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Alibeu O; Genomic Core Facility, Imagine Institute, 75015 Paris, France., Masson C; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Brochard K; Department of Pediatrics, Toulouse Hospital, 31400 Toulouse, France., Hurault de Ligny B; Department of Nephrology, Clemenceau Hospital, 14033 Caen, France., Novo R; Department of Pediatric Nephrology, Jeanne de Flandre Hospital, 59037 Lille, France., Pietrement C; Department of Pediatrics, American Memorial Hospital, 51092 Reims, France., Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, İstanbul University 34093 Istanbul, Turkey., Salomon R; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Department of Pediatric Nephrology, Necker Hospital, AP-HP, 75015 Paris, France; AP-HP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Necker Hospital, 75015 Paris, France., Gubler MC; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Department of Pediatric Nephrology, Necker Hospital, AP-HP, 75015 Paris, France., Otto EA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48019, USA., Antignac C; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; AP-HP, Genetic Department, Necker Hospital, 75015 Paris, France., Kim J; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Korea., Benmerah A; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu., Saunier S; INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France. Electronic address: sophie.saunier@inserm.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2014 Jun 05; Vol. 94 (6), pp. 905-14. Date of Electronic Publication: 2014 May 29.
Autor:
Gee HY; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Otto EA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Hurd TW; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Ashraf S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Chaki M; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Cluckey A; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Vega-Warner V; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Saisawat P; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Diaz KA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Fang H; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kohl S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Allen SJ; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Airik R; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zhou W; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Ramaswami G; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Janssen S; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Fu C; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Innis JL; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Weber S; Department of Pediatrics, University Children's Hospital, University Essen, Essen, Germany., Vester U; Department of Pediatrics, University Children's Hospital, University Essen, Essen, Germany., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Fathy HM; The Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt., Jeck N; Zentrum für Kinder- und Jugendmedizin am UKGM, Marburg, Germany., Klaus G; Zentrum für Kinder- und Jugendmedizin am UKGM, Marburg, Germany., Nayir A; Department of Pediatric Nephrology, Faculty of Medicine, University of Istanbul, Istanbul, Turkey., Rahim KA; Department of Pediatric Nephrology, Children's Hospital King Fahad Medical City, Riyadh, Saudi Arabia., Al Attrach I; Division of Pediatric Nephrology, Tawam Hospital, UAE University, Al Ain, UAE., Al Hassoun I; King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Ozturk S; Nephrology, Haseki Training and Research Hospital, Bezmialem Vakif University Faculty of Medicine, Istanbul, Turkey., Drozdz D; Dialysis Unit, Polish-American Children's Hospital, Collegium Medicum of Jagiellonian University, Cracow, Poland., Helmchen U; Universitätsklinikum Hamburg-Eppendorf, III. Medizinische Klinik, University of Hamburg, Hamburg, Germany., O'Toole JF; Division of Nephrology, Department of Internal Medicine, MetroHealth Medical Center, and Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Attanasio M; Department of Internal Medicine and Eugene McDermott Center for Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Lewis RA; Departments of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA., Nürnberg G; Cologne Center for Genomics, Center for Molecular Medicine Cologne, and Cologne Excellence Cluster on Cellular Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics, Center for Molecular Medicine Cologne, and Cologne Excellence Cluster on Cellular Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany., Washburn J; Biomedical Research Core Facilities, University of Michigan, Ann Arbor, Michigan, USA., MacDonald J; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Innis JW; 1] Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA [2] HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Levy S; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Hildebrandt F; 1] Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Publikováno v:
Kidney international [Kidney Int] 2014 Apr; Vol. 85 (4), pp. 880-7. Date of Electronic Publication: 2013 Nov 20.
Autor:
Hurd TW; University of Edinburgh, Edinburgh, UK., Otto EA, Mishima E, Gee HY, Inoue H, Inazu M, Yamada H, Halbritter J, Seki G, Konishi M, Zhou W, Yamane T, Murakami S, Caridi G, Ghiggeri G, Abe T, Hildebrandt F
Publikováno v:
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2013 May; Vol. 24 (6), pp. 967-77. Date of Electronic Publication: 2013 May 09.
Autor:
Chaki M; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA., Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
Publikováno v:
Cell [Cell] 2012 Aug 03; Vol. 150 (3), pp. 533-48.
Autor:
Halbritter, Jan, Bizet, Albane A, Schmidts, Miriam, Porath, Jonathan D, Braun, Daniela A, Gee, Heon Yung, McInerney-Leo, Aideen M, Krug, Pauline, Filhol, Emilie, Davis, Erica E, Airik, Rannar, Czarnecki, Peter G, Lehman, Anna M, Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J, Tory, Kálmán, Leo, Paul J, Gardiner, Brooke, McKenzie, Fiona A, Zankl, Andreas, Brown, Matthew A, Hartley, Jane L, Maher, Eamonn R, Li, Chunmei, Leroux, Michel R, Scambler, Peter J, Zhan, Shing H, Jones, Steven J, Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N, Constantinescu, Alexandru, Krantz, Ian D, Kaplan, Bernard S, Shah, Jagesh V, Hurd, Toby W, Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L, Otto, Edgar A, Beales, Philip L, Mitchison, Hannah M, Saunier, Sophie, Hildebrandt, Friedhelm
Publikováno v:
Halbritter, J, Bizet, A A, Schmidts, M, Porath, J D, Braun, D A, Gee, H Y, McInerney-Leo, A M, Krug, P, Filhol, E, Davis, E E, Airik, R, Czarnecki, P G, Lehman, A M, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, A J, Tory, K, Leo, P J, Gardiner, B, McKenzie, F A, Zankl, A, Brown, M A, Hartley, J L, Maher, E R, Li, C, Leroux, M R, Scambler, P J, Zhan, S H, Jones, S J, Kayserili, H, Tuysuz, B, Moorani, K N, Constantinescu, A, Krantz, I D, Kaplan, B S, Shah, J V, Hurd, T W, Doherty, D, Katsanis, N, Duncan, E L, Otto, E A, Beales, P L, Mitchison, H M & Saunier, S & Hildebrandt, F 2013, ' Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans ', American Journal of Human Genetics, vol. 93, no. 5, pp. 915-25 . https://doi.org/10.1016/j.ajhg.2013.09.012
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::51d35ce878444a0e862517bb12088440
https://europepmc.org/articles/PMC3824130/
https://europepmc.org/articles/PMC3824130/