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J Invest Dermatol 2019 Nov 11. Epub 2019 Nov 11.
Service de dermatologie, CHU Dijon Bourgogne, Dijon, France; Equipe INSERM UMR1231, Génétique des Anomalies du développement, Université Bourgogne Franche-Comté, Dijon, France; Centre de référence MAGEC-Mosaique CHU de Dijon, Dijon, France.
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http://dx.doi.org/10.1016/j.jid.2019.08.455 | DOI Listing |
J Invest Dermatol 2019 Nov 29. Epub 2019 Nov 29.
Service de Dermatologie Pédiatrique, Université de Bordeaux, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France; Université de Bordeaux, INSERM, U1211, Bordeaux, France.
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http://dx.doi.org/10.1016/j.jid.2019.10.014 | DOI Listing |
Acta Derm Venereol 2019 Oct 21. Epub 2019 Oct 21.
Dermatology Department, Reference Center for Rare Skin Diseases, CHU Larrey, Université Paul Sabatier, FR-31000 Toulouse, France.
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http://dx.doi.org/10.2340/00015555-3359 | DOI Listing |
Br J Ophthalmol 2019 Sep 24;103(9):1239-1247. Epub 2018 Nov 24.
Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.
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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2018-3127 | Publisher Site |
http://dx.doi.org/10.1136/bjophthalmol-2018-312729 | DOI Listing |
Acta Derm Venereol 2019 09;99(10):921-922
Dermatology Department, Reference Center for Rare Skin Diseases, CHU Larrey, Université Paul Sabatier, 31000 Toulouse, France.
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http://dx.doi.org/10.2340/00015555-3218 | DOI Listing |
J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.
Service de Génétique, Hospices Civils de Lyon, Bron, France.
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http://dx.doi.org/10.1136/jmedgenet-2018-105778 | DOI Listing |
Am J Med Genet A 2019 Jun 23;179(6):1030-1033. Epub 2019 Mar 23.
Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61127 | Publisher Site |
http://dx.doi.org/10.1002/ajmg.a.61127 | DOI Listing |
Pediatr Dermatol 2019 Mar 21;36(2):260-261. Epub 2019 Feb 21.
Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, INSERM U 1035, University of Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1111/pde.13740 | DOI Listing |
Pigment Cell Melanoma Res 2019 01 13;32(1):25-40. Epub 2018 Jul 13.
Univ. Bordeaux, Inserm, BMGIC, UMR 1035, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12720 | DOI Listing |
Orphanet J Rare Dis 2018 09 18;13(1):162. Epub 2018 Sep 18.
EA EpiDermE, UPE-Université Paris-Est, Créteil, France.
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http://dx.doi.org/10.1186/s13023-018-0894-3 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145119 | PMC |
Pigment Cell Melanoma Res 2018 07 14;31(4):466-474. Epub 2018 Feb 14.
Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12688 | DOI Listing |
J Clin Endocrinol Metab 2018 07;103(7):2436-2446
Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, Assistance Publique - Hôpitaux de Paris (APHP), Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.
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http://dx.doi.org/10.1210/jc.2017-02152 | DOI Listing |
Pigment Cell Melanoma Res 2018 03 21;31(2):318-329. Epub 2017 Oct 21.
Paediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, Hôpital Pellegrin-Enfants, Bordeaux University Hospitals, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12651 | DOI Listing |
J Hum Genet 2018 Mar 20;63(3):257-261. Epub 2017 Dec 20.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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http://www.nature.com/articles/s10038-017-0375-x | Publisher Site |
http://dx.doi.org/10.1038/s10038-017-0375-x | DOI Listing |
Nat Med 2017 Oct 4;23(10):1226-1233. Epub 2017 Sep 4.
Paris Descartes University, Sorbonne Paris Cité, Paris, France.
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http://dx.doi.org/10.1038/nm.4368 | DOI Listing |
Genet Med 2017 09 2;19(9):989-997. Epub 2017 Feb 2.
Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.
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http://dx.doi.org/10.1038/gim.2016.220 | DOI Listing |
Presse Med 2017 Jul - Aug;46(7-8 Pt 1):648-654. Epub 2017 Jul 19.
CHU de Bordeaux, service de dermatologie, 33076 Bordeaux, France.
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https://linkinghub.elsevier.com/retrieve/pii/S07554982173025 | Publisher Site |
http://dx.doi.org/10.1016/j.lpm.2017.05.020 | DOI Listing |
Pigment Cell Melanoma Res 2017 Jan 20;30(6):563-570. Epub 2017 Oct 20.
Service Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12608 | DOI Listing |
Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.
Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
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http://dx.doi.org/10.1002/pd.4965 | DOI Listing |
Eur J Hum Genet 2016 06 23;24(6):830-7. Epub 2015 Sep 23.
Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU, Dijon, France.
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http://dx.doi.org/10.1038/ejhg.2015.202 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867444 | PMC |
PLoS One 2015 28;10(10):e0141067. Epub 2015 Oct 28.
INSERM UMR 1043, CNRS UMR 5282, Université Toulouse III Paul Sabatier, Toulouse, France.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0141067 | PLOS |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624846 | PMC |
Am J Med Genet A 2016 06 7;170(6):1570-2. Epub 2016 Mar 7.
Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital Saint-André, CHU Bordeaux, France.
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http://dx.doi.org/10.1002/ajmg.a.37601 | DOI Listing |
Acta Derm Venereol 2016 May;96(4):473-8
Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.
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http://dx.doi.org/10.2340/00015555-2299 | DOI Listing |
PLoS One 2015 30;10(11):e0144323. Epub 2015 Nov 30.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0144323 | PLOS |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664274 | PMC |
FEBS J 2016 Feb 4;283(3):498-509. Epub 2016 Jan 4.
INSERM U-1100 "Centre d'Etude des Pathologies Respiratoires", Tours, France.
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http://dx.doi.org/10.1111/febs.13605 | DOI Listing |
Pigment Cell Melanoma Res 2016 Jan 24;29(1):107-9. Epub 2015 Oct 24.
Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, University Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12408 | DOI Listing |
Pigment Cell Melanoma Res 2016 Jan 3;29(1):104-6. Epub 2015 Nov 3.
Genetics, University Hospital Center, Bordeaux, France.
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http://doi.wiley.com/10.1111/pcmr.12425 | Publisher Site |
http://dx.doi.org/10.1111/pcmr.12425 | DOI Listing |
Eur J Hum Genet 2016 01 19;25(1):52-58. Epub 2016 Oct 19.
Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.
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http://dx.doi.org/10.1038/ejhg.2016.139 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159772 | PMC |
Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.
1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France
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http://dx.doi.org/10.1093/brain/awv143 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756 | PMC |
Exp Dermatol 2015 Mar;24(3):222-4
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.
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http://dx.doi.org/10.1111/exd.12624 | DOI Listing |
Pediatr Dermatol 2013 Nov-Dec;30(6):665-73
Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France; Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France.
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http://doi.wiley.com/10.1111/pde.12171 | Publisher Site |
http://dx.doi.org/10.1111/pde.12171 | DOI Listing |
J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.
Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:
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http://dx.doi.org/10.1038/jid.2013.360 | DOI Listing |
Pigment Cell Melanoma Res 2014 Jan 17;27(1):11-8. Epub 2013 Oct 17.
Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.
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http://doi.wiley.com/10.1111/pcmr.12167 | Publisher Site |
http://dx.doi.org/10.1111/pcmr.12167 | DOI Listing |
Pigment Cell Melanoma Res 2014 Jan 23;27(1):59-71. Epub 2013 Oct 23.
Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12173 | DOI Listing |
Hum Mol Genet 2013 Dec 1;22(25):5121-35. Epub 2013 Aug 1.
Institut für Humangenetik and.
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http://dx.doi.org/10.1093/hmg/ddt366 | DOI Listing |
Am J Hum Genet 2013 Oct 26;93(4):752-7. Epub 2013 Sep 26.
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
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http://dx.doi.org/10.1016/j.ajhg.2013.08.007 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791268 | PMC |
Pigment Cell Melanoma Res 2013 May 30;26(3):402-7. Epub 2013 Jan 30.
Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin Disorders, Hôpital Pellegrin, Bordeaux, France.
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http://dx.doi.org/10.1111/pcmr.12065 | DOI Listing |
Nat Genet 2012 Feb 26;44(4):445-9, S1. Epub 2012 Feb 26.
Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium.
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http://dx.doi.org/10.1038/ng.1105 | DOI Listing |
Epilepsia 2011 Oct 18;52(10):1820-7. Epub 2011 Jul 18.
Clinical Genetic Unit Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
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http://dx.doi.org/10.1111/j.1528-1167.2011.03163.x | DOI Listing |
Eur J Med Genet 2011 May-Jun;54(3):292-4. Epub 2011 Jan 5.
Laboratoire de Cytogénétique, Service de Génétique Médicale, Hôpital Pellegrin (Maternité), CHU de Bordeaux, France.
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http://dx.doi.org/10.1016/j.ejmg.2010.12.005 | DOI Listing |
Arch Dermatol 2011 Sep;147(9):1073-6
Service de Génétique Médicale, Université de Bordeaux 2, Centre Hôpitalier Universitaire de Bordeaux, Bordeaux, France.
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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc | Publisher Site |
http://dx.doi.org/10.1001/archdermatol.2011.230 | 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 |
Cancer Genet 2011 Jun;204(6):340-3
Service de Génétique Médicale, CHU de Bordeaux, France.
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http://dx.doi.org/10.1016/j.cancergen.2011.05.003 | DOI Listing |
Hum Genet 2011 Feb 18;129(2):199-208. Epub 2010 Nov 18.
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux, France.
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http://link.springer.com/10.1007/s00439-010-0913-5 | Publisher Site |
http://dx.doi.org/10.1007/s00439-010-0913-5 | DOI Listing |
Am J Med Genet A 2010 Dec;152A(12):3016-21
Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France.
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http://dx.doi.org/10.1002/ajmg.a.33761 | DOI Listing |
J Am Acad Dermatol 2010 Oct;63(4):607-41
Department of Dermatology, University Hospital Münster, Münster, Germany.
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http://dx.doi.org/10.1016/j.jaad.2009.11.020 | DOI Listing |
Am J Med Genet A 2010 Oct;152A(10):2664-5
National Reference Centre for Rare Skin Disorders, INSERM U876, CHU de Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1002/ajmg.a.33648 | DOI Listing |
Acta Derm Venereol 2010 Sep;90(5):450-3
National Reference Centre for Rare Skin Disorders, Hôpital Pellegrin-Enfants, CHU de Bordeaux, France.
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http://dx.doi.org/10.2340/00015555-0941 | DOI Listing |
Am J Med Genet A 2010 Jun;152A(6):1347-8
St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
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http://doi.wiley.com/10.1002/ajmg.a.33455 | Publisher Site |
http://dx.doi.org/10.1002/ajmg.a.33455 | DOI Listing |
Arch Dermatol 2009 Nov;145(11):1341-3
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http://dx.doi.org/10.1001/archdermatol.2009.274 | DOI Listing |
Am J Med Genet A 2009 Sep;149A(9):2020-30
Department of Pediatric Dermatology, National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France.
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http://dx.doi.org/10.1002/ajmg.a.32902 | DOI Listing |
Am J Med Genet A 2009 Aug;149A(8):1628-40
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
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http://dx.doi.org/10.1002/ajmg.a.32956 | DOI Listing |
Clin Dysmorphol 2009 Apr;18(2):116-9
Department of Medical genetics, National Reference Center for Congenital Anomalies of Development, Université Victor Segalen Bordeaux, Paris, France.
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http://dx.doi.org/10.1097/MCD.0b013e32831da7ab | DOI Listing |
Pigment Cell Melanoma Res 2008 Dec 28;21(6):646-52. Epub 2008 Oct 28.
Service de Dermatologie et Dermatologie Pédiatrique, Centre de Référence des Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France.
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http://dx.doi.org/10.1111/j.1755-148X.2008.00511.x | DOI Listing |
Am J Med Genet A 2008 Nov;146A(21):2762-9
Department of Pediatric Dermatology (National Reference Center for Rare Skin Disorders), Pellegrin University Hospitals, Bordeaux, France.
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http://dx.doi.org/10.1002/ajmg.a.32524 | DOI Listing |
Pigment Cell Melanoma Res 2008 Oct;21(5):583-7
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http://dx.doi.org/10.1111/j.1755-148X.2008.00496.x | DOI Listing |
Nat Genet 2008 Sep;40(9):1119-23
Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 75015 Paris, France.
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http://dx.doi.org/10.1038/ng.199 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675613 | PMC |