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Arch Dis Child Fetal Neonatal Ed 2019 Oct 22. Epub 2019 Oct 22.
Clinical Genetics, CHU Nancy, Nancy, France.
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http://dx.doi.org/10.1136/archdischild-2019-317121 | DOI Listing |
Otol Neurotol 2019 01;40(1):121-129
Department of Genetics.
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http://dx.doi.org/10.1097/MAO.0000000000002054 | DOI Listing |
J Neuromuscul Dis 2018 ;5(2):257-260
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.
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http://dx.doi.org/10.3233/JND-170265 | DOI Listing |
J Am Soc Nephrol 2017 Oct 31;28(10):2901-2914. Epub 2017 May 31.
Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,
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http://www.jasn.org/lookup/doi/10.1681/ASN.2017010043 | Publisher Site |
http://dx.doi.org/10.1681/ASN.2017010043 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619971 | PMC |
J Med Genet 2017 06 13;54(6):371-380. Epub 2017 Mar 13.
FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
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http://dx.doi.org/10.1136/jmedgenet-2016-104436 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557276 | PMC |
N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.
From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).
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http://dx.doi.org/10.1056/NEJMoa1609009 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731 | PMC |
PLoS Biol 2016 Mar 16;14(3):e1002416. Epub 2016 Mar 16.
Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
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http://dx.doi.org/10.1371/journal.pbio.1002416 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4794247 | PMC |
Arthritis Rheumatol 2015 Nov;67(11):3027-36
La Cavale Blanche University Hospital, Brest and EA2216 Brittany University (UBO), Brest, France.
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http://dx.doi.org/10.1002/art.39292 | DOI Listing |
Am J Med Genet A 2015 Jun 21;167(6):1275-84. Epub 2015 Apr 21.
CHU-Reims, HMB, Service de Génétique, France.
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http://doi.wiley.com/10.1002/ajmg.a.36995 | Publisher Site |
http://dx.doi.org/10.1002/ajmg.a.36995 | DOI Listing |
Am J Hum Genet 2015 Jun 21;96(6):955-61. Epub 2015 May 21.
Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia. Electronic address:
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http://dx.doi.org/10.1016/j.ajhg.2015.04.014 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457946 | PMC |
Am J Med Genet A 2014 Nov 8;164A(11):2724-31. Epub 2014 Aug 8.
Service de Génétique et Biologie de la Reproduction, Hôpital Maison Blanche, Centre Hospitalier Universitaire, Reims, France.
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http://dx.doi.org/10.1002/ajmg.a.36720 | DOI Listing |
Eur J Hum Genet 2014 Apr 16;22(4):471-9. Epub 2013 Oct 16.
Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Nimes, Université Montpellier 1, Montpellier, France.
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http://www.nature.com/doifinder/10.1038/ejhg.2013.189 | Publisher Site |
http://dx.doi.org/10.1038/ejhg.2013.189 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953915 | PMC |
Hum Mutat 2014 Apr 5;35(4):478-85. Epub 2014 Mar 5.
Département de Génétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
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http://dx.doi.org/10.1002/humu.22517 | DOI Listing |
Eur J Med Genet 2014 Apr 3;57(5):185-94. Epub 2014 Feb 3.
Department of Genetics, Robert Debre University Hospital, Reims, France; EA3801, URCA, Reims, France.
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http://dx.doi.org/10.1016/j.ejmg.2013.12.009 | DOI Listing |
Acta Neuropathol 2013 Sep 3;126(3):427-42. Epub 2013 Jul 3.
Department of Pathology, Lariboisière Hospital, APHP, 2 Rue Ambroise Paré, 75010, Paris, France.
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http://link.springer.com/content/pdf/10.1007%252Fs00401-013- | Web Search |
http://link.springer.com/10.1007/s00401-013-1146-1 | Publisher Site |
http://dx.doi.org/10.1007/s00401-013-1146-1 | DOI Listing |
Clin J Am Soc Nephrol 2013 Jul 28;8(7):1179-87. Epub 2013 Mar 28.
Assistance Publique Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants malades, Paris, France.
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http://dx.doi.org/10.2215/CJN.10221012 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3700697 | PMC |
Eur J Hum Genet 2013 Jun 17;21(6):602-12. Epub 2012 Oct 17.
CHU-Reims, HMB, Service de génétique, Reims, France.
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http://dx.doi.org/10.1038/ejhg.2012.230 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658200 | PMC |
Hum Mol Genet 2013 Jun 19;22(12):2387-99. Epub 2013 Feb 19.
Service de Biochimie et Génétique, AP-HP, Hôpital H. Mondor - A. Chenevier, Créteil F-94000, France.
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http://dx.doi.org/10.1093/hmg/ddt083 | DOI Listing |
Am J Med Genet C Semin Med Genet 2013 May 18;163C(2):92-105. Epub 2013 Apr 18.
Service de Génétique, Centre Hospitalo‐Universitaire, and UMR INSERM U930, Faculté de Médecine, Université François Rabelais, Tours, France.
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http://doi.wiley.com/10.1002/ajmg.c.31360 | Publisher Site |
http://dx.doi.org/10.1002/ajmg.c.31360 | DOI Listing |
Birth Defects Res A Clin Mol Teratol 2013 Mar;97(3):123-32
Department of Anatomy, Faculté de Médecine de Reims, Université de Reims Champagne-Ardenne, Reims, France.
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http://dx.doi.org/10.1002/bdra.23125 | DOI Listing |
J Med Genet 2012 Dec;49(12):737-46
Unité INSERM U781, Faculté Paris-Descartes, Institut IMAGINE, Paris, France.
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http://dx.doi.org/10.1136/jmedgenet-2012-101173 | DOI Listing |
Eur J Med Genet 2012 Nov 4;55(11):625-9. Epub 2012 Aug 4.
Department of Child and Adolescent Psychiatry, University Hospital of Reims, France.
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http://dx.doi.org/10.1016/j.ejmg.2012.07.009 | DOI Listing |
Am J Hum Genet 2012 Aug;91(2):372-8
INSERM U781, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes, 75006 Paris Sorbonne, France.
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http://dx.doi.org/10.1016/j.ajhg.2012.06.017 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415538 | PMC |
Brain 2012 Feb 9;135(Pt 2):469-82. Epub 2012 Feb 9.
Institut de Pathologie, Centre de Biologie-Pathologie, CHU Lille, 33.3.20446983, France.
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http://dx.doi.org/10.1093/brain/awr357 | DOI Listing |
Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.
Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.
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http://dx.doi.org/10.1038/nature10406 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175 | PMC |
J Med Genet 2011 Jul 13;48(7):497-504. Epub 2011 Apr 13.
Inserm U983, Hôpital Necker, 75015 Paris, France.
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http://www.tara.tcd.ie/bitstream/handle/2262/59404/PEER_stag | Web Search |
http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.088526 | Publisher Site |
http://dx.doi.org/10.1136/jmg.2010.088526 | DOI Listing |
J Clin Endocrinol Metab 2009 Aug 19;94(8):2817-27. Epub 2009 May 19.
Département de Génétique, Hôpital Européen Georges Pompidou, 20-40 rue Leblanc, Paris, France.
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http://dx.doi.org/10.1210/jc.2008-2504 | DOI Listing |
Eur J Med Genet 2008 Nov-Dec;51(6):598-607. Epub 2008 Sep 6.
Service de génétique, IFR53, UFR de médecine, CHRU de Reims, France.
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http://dx.doi.org/10.1016/j.ejmg.2008.08.002 | DOI Listing |
Eur J Hum Genet 2008 Jun 16;16(6):680-7. Epub 2008 Jan 16.
Service de Génétique, UFR de médecine, Reims CHU, Hopital Maison-Blanche, 45 rue Cognacq-Jay, Reims, France.
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http://dx.doi.org/10.1038/sj.ejhg.5201977 | DOI Listing |
Am J Med Genet A 2008 Apr;146A(7):917-24
Service de Génétique, Hôpital Maison-Blanche, CHRU, UFR de Médecine, Reims, France.
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http://dx.doi.org/10.1002/ajmg.a.32195 | DOI Listing |
Acta Obstet Gynecol Scand 2007 6;86(12):1442-6. Epub 2007 Sep 6.
Department of Obstetrics and Gynecology, Institut Mère-Enfant Alix de Champagne, CHU Reims, Reims, France.
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http://dx.doi.org/10.1080/00016340701644843 | DOI Listing |
Am J Med Genet A 2006 Feb;140(3):212-21
Service de Génétique, CHU-Reims, UFR de médecine REIMS, IFR53, Reims, France.
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http://dx.doi.org/10.1002/ajmg.a.31057 | DOI Listing |
Am J Hum Genet 2005 Mar 21;76(3):493-504. Epub 2005 Jan 21.
Département de Génétique et Unité INSERM U-393, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
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http://dx.doi.org/10.1086/428679 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196400 | PMC |
Am J Respir Cell Mol Biol 2005 Feb 2;32(2):87-92. Epub 2004 Dec 2.
INSERM UMR S 514, CHU Maison Blanche, 45 rue Cognacq-Jay, 51092 Reims Cedex, France.
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http://dx.doi.org/10.1165/rcmb.2004-0079RC | DOI Listing |
Dev Dyn 2002 Oct;225(2):176-85
INSERM U514, IFR 53, CHU Maison Blanche, Reims, France.
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http://dx.doi.org/10.1002/dvdy.10147 | DOI Listing |
J Pharmacol Exp Ther 2002 Sep;302(3):1151-7
Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 514, IFR 53, CHU Maison Blanche, Université de Reims, 45 rue Cognacq-Jay, 51092 Reims Cedex, France.
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http://dx.doi.org/10.1124/jpet.102.033407 | DOI Listing |
J Pathol 2002 Sep;198(1):83-91
Department of Pathology, CHU de Grenoble, 38043 Grenoble Cedex 09, France.
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http://doi.wiley.com/10.1002/path.1182 | Publisher Site |
http://dx.doi.org/10.1002/path.1182 | DOI Listing |
Med Pediatr Oncol 2002 Jan;38(1):53-4
Department of Hematology, CHU Reims, France.
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http://dx.doi.org/10.1002/mpo.1264 | DOI Listing |