共 50 条
- [1] Inherited TP53 Mutations and the Li-Fraumeni SyndromeCOLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2017, 7 (04):Guha, Tanya论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada Univ Toronto, Inst Med Sci, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON M5G 1X8, CanadaMalkin, David论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Hematol Oncol, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Pediat, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Med Biophys, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada
- [2] Germline TP53 mutations and Li-Fraumeni syndromeHUMAN MUTATION, 2003, 21 (03) : 313 - 320Varley, JM论文数: 0 引用数: 0 h-index: 0机构: Christie NHS Trust, Paterson Inst Canc Res, Manchester M20 4BX, Lancs, England Christie NHS Trust, Paterson Inst Canc Res, Manchester M20 4BX, Lancs, England
- [3] Germline TP53 Mutations and the Changing Landscape of Li-Fraumeni SyndromeHUMAN MUTATION, 2014, 35 (06) : 654 - 662Kamihara, Junne论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Hematol Oncol, Boston Childrens Hosp, Boston, MA USA Harvard Univ, Sch Med, Dept Pediat Oncol, Dana Farber Canc Inst, Boston, MA USA Harvard Univ, Sch Med, Div Hematol Oncol, Boston Childrens Hosp, Boston, MA USARana, Huma Q.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Med Oncol, Dana Farber Canc Inst, Boston, MA USA Harvard Univ, Sch Med, Div Hematol Oncol, Boston Childrens Hosp, Boston, MA USAGarber, Judy E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Med Oncol, Dana Farber Canc Inst, Boston, MA USA Harvard Univ, Sch Med, Div Hematol Oncol, Boston Childrens Hosp, Boston, MA USA
- [4] Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndromeJOURNAL OF MEDICAL GENETICS, 2018, 55 (03) : 173 - 180Renaux-Petel, Mariette论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Rouen Univ Hosp, Dept Paediat Surg, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceCharbonnier, Francoise论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceThery, Jean-Christophe论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Henri Becquerel Ctr, Dept Med Oncol, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceFermey, Pierre论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceLienard, Gwendoline论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceBou, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceCoutant, Sophie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France论文数: 引用数: h-index:机构:Kasper, Edwige论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceFourneaux, Steeve论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceManase, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceBlanluet, Maud论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceLeheup, Bruno论文数: 0 引用数: 0 h-index: 0机构: Nancy Univ Hosp, Dept Clin Genet, Nancy, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceMansuy, Ludovic论文数: 0 引用数: 0 h-index: 0机构: Nancy Univ Hosp, Dept Paediat Oncol, Nancy, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceChampigneulle, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Nancy Univ Hosp, Dept Pathol, Nancy, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceChappe, Celine论文数: 0 引用数: 0 h-index: 0机构: Rennes Univ Hosp, Dept Paediat Oncol, Rennes, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceLongy, Michel论文数: 0 引用数: 0 h-index: 0机构: Bergonie Inst, Dept Mol Genet, Bordeaux, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceSevenet, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Bergonie Inst, Dept Mol Genet, Bordeaux, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceBressac-de Paillerets, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Dept Med Biol & Pathol, Villejuif, France Univ Paris Saclay, Gustave Roussy, Inserm, U1186, Villejuif, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceGuerrini-Rousseau, Lea论文数: 0 引用数: 0 h-index: 0机构: Gustave Roussy Canc Campus, Child & Adolescent Canc Dept, Villejuif, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceBrugieres, Laurence论文数: 0 引用数: 0 h-index: 0机构: Gustave Roussy Canc Campus, Child & Adolescent Canc Dept, Villejuif, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceCaron, Olivier论文数: 0 引用数: 0 h-index: 0机构: Gustave Roussy Canc Campus, Dept Oncol, Villejuif, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France论文数: 引用数: h-index:机构:Tournier, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, FranceBaert-Desurmont, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France论文数: 引用数: h-index:机构:Bougeard, Gaelle论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France Rouen Univ Hosp, Rouen, France Normandie Univ, UNIROUEN, Normandy Ctr Genom & Personalized Med, Dept Genet,Inserm,U1245, Rouen, France
- [5] Two TP53 germline mutations in a classical Li-Fraumeni syndrome familyFAMILIAL CANCER, 2007, 6 (03) : 311 - 316van Hest, Liselotte P.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, NetherlandsRuijs, Marielle W. G.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, NetherlandsWagner, Anja论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, Netherlandsvan der Meer, Conny A.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, NetherlandsVerhoef, Senno论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, Netherlandsvan't Veer, Laura J.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, NetherlandsMeijers-Heijboer, Hanne论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, Netherlands
- [6] Two TP53 germline mutations in a classical Li-Fraumeni syndrome familyFamilial Cancer, 2007, 6 : 311 - 316Liselotte P. van Hest论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical GeneticsMariëlle W. G. Ruijs论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical GeneticsAnja Wagner论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical GeneticsConny A. van der Meer论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical GeneticsSenno Verhoef论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical GeneticsLaura J. van‘t Veer论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical GeneticsHanne Meijers-Heijboer论文数: 0 引用数: 0 h-index: 0机构: Erasmus Medical Center,Department of Clinical Genetics
- [7] The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutationsCANCER GENETICS AND CYTOGENETICS, 2009, 193 (01) : 63 - 66Finkova, Alena论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech RepublicVazna, Alzbeta论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech RepublicHrachovina, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech RepublicBendova, Sarka论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech RepublicProchazkova, Kamila论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech RepublicSedlacek, Zdenek论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech Republic Charles Univ Prague, Dept Biol & Med Genet, Sch Med 2, Prague 15006 5, Czech Republic
- [8] Germline copy number variation in Li-Fraumeni syndrome patients with TP53 mutationsCANCER RESEARCH, 2011, 71Silva, Amanda G. S.论文数: 0 引用数: 0 h-index: 0Achatz, Maria Isabel W.论文数: 0 引用数: 0 h-index: 0Brentani, Ricardo论文数: 0 引用数: 0 h-index: 0Krepischi, Ana Cristina V.论文数: 0 引用数: 0 h-index: 0Rosenberg, Carla论文数: 0 引用数: 0 h-index: 0
- [9] A novel TP53 tandem duplication in a child with Li-Fraumeni syndromeCOLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (03):Xu, Feng论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAAref-Eshghi, Erfan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAWu, Jinhua论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USASchubert, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAWertheim, Gerald论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USABhatti, Tricia论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAPogoriler, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAPatel, Maha论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USACao, Kajia论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USALong, Ariel论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAFan, Zhiqian论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USADenenberg, Elizabeth H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAFanning, Elizabeth A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAWilmoth, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USALuo, Minjie论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAConlin, Laura K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USADain, Aleksandra S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAZelley, Kristin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USABaldino, Sarah论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USABalamuth, Naomi论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAMacFarland, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USALi, Marilyn M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USAZhong, Yiming论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
- [10] Germline TP53 mutations and Li-Fraumeni syndrome (vol 21, pg 313, 2003)HUMAN MUTATION, 2003, 21 (05) : 551 - 551Varley, JM论文数: 0 引用数: 0 h-index: 0机构: Christie NHS Trust, Paterson Inst Canc Res, Manchester M20 4BX, Lancs, England Christie NHS Trust, Paterson Inst Canc Res, Manchester M20 4BX, Lancs, England