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- [21] A LMNA splicing mutation in two sisters with severe dunnigan-type familial partial lipodystrophy type 2JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (07): : 2689 - 2695Morel, Chantal F.论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaThomas, Mary Ann论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaCao, Henian论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaO'Neil, Caroline H.论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaPickering, J. Geoffrey论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaFoulkes, William D.论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada
- [22] Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA geneDiabetologia, 2004, 47 : 753 - 756D. B. Savage论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232I. McFarlane论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232I. Barroso论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232M. A. Soos论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232A. Powlson论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232E. L. Thomas论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232J. D. Bell论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232I. Scobie论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232P. E. Belchetz论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232W. F. Kelly论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232D. J. Halsall论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232A. J. Schafer论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232S. O’Rahilly论文数: 0 引用数: 0 h-index: 0机构: Addenbrooke’s Hospital,Department of Medicine and Clinical Biochemistry, University of Cambridge, UK Box 232
- [23] A novel syndrome of partial lipodystrophy and ketosis-prone diabetes due to a homozygous mutation in CIDECHORMONE RESEARCH, 2009, 72 : 39 - 39Rubio-Cabezas, Oscar论文数: 0 引用数: 0 h-index: 0机构: Univ Nino Jesus, Hosp Infantil, Madrid, Spain Univ Autonoma Madrid, Madrid, Spain Inst Salud Carlos III, CIBERobn, Madrid, Spain Univ Nino Jesus, Hosp Infantil, Madrid, SpainPuri, Vishwajeet论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts, Sch Med, Program Mol Med, Worcester, MA USA Univ Nino Jesus, Hosp Infantil, Madrid, SpainCzech, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts, Sch Med, Program Mol Med, Worcester, MA USA Univ Nino Jesus, Hosp Infantil, Madrid, SpainO'Rahilly, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Metab Res Labs, Cambridge CB2 2QQ, England Univ Nino Jesus, Hosp Infantil, Madrid, SpainSavage, David B.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Metab Res Labs, Cambridge CB2 2QQ, England Univ Nino Jesus, Hosp Infantil, Madrid, SpainArgente, Jesus论文数: 0 引用数: 0 h-index: 0机构: Univ Nino Jesus, Hosp Infantil, Madrid, Spain Univ Autonoma Madrid, Madrid, Spain Inst Salud Carlos III, CIBERobn, Madrid, Spain Univ Nino Jesus, Hosp Infantil, Madrid, Spain
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- [25] Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA geneDIABETOLOGIA, 2004, 47 (04) : 753 - 756Savage, DB论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandSoos, MA论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandPowlson, A论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandO'Rahilly, S论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandMcFarlane, I论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandHalsall, DJ论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandBarroso, I论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandThomas, EL论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandBell, JD论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandScobie, I论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandBelchetz, PE论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandKelly, WF论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, EnglandSchafer, AJ论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Dept Med & Clin Biochem, Cambridge CB2 2QQ, England
- [26] Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W MutationJOURNAL OF THE ENDOCRINE SOCIETY, 2020, 4 (10)Magno, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyCeccarini, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyPelosini, Caterina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cisanello, Labs Clin Chem & Endocrinol, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyFerrari, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyProdam, Flavia论文数: 0 引用数: 0 h-index: 0机构: Univ Piemonte Orientale, Dept Med Sci Amedeo Avogadro, Div Pediat, Univ Novara, I-28100 Novara, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyGilio, Donatella论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyMaffei, Margherita论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy CNR, Inst Clin Physiol, Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalySessa, Maria Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cisanello, Labs Clin Chem & Endocrinol, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyBarison, Andrea论文数: 0 引用数: 0 h-index: 0机构: Fdn Toscana Gabriele Monasterio, Pisa, Italy Scuola Super Sant Anna, Inst Life Sci, Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyCiccarone, Annamaria论文数: 0 引用数: 0 h-index: 0机构: Cisanello Hosp, Sect Diabet & Metab Dis, Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyEmdin, Michele论文数: 0 引用数: 0 h-index: 0机构: Fdn Toscana Gabriele Monasterio, Pisa, Italy Scuola Super Sant Anna, Inst Life Sci, Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalyAimaretti, Gianluca论文数: 0 引用数: 0 h-index: 0机构: Univ Piemonte Orientale, Dept Translat Med, Endocrinol, Novara, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, ItalySantini, Ferruccio论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy Univ Hosp Pisa, Obes & Lipodystrophy Ctr, Endocrinol Unit, Via Paradisa 2, I-56126 Pisa, Italy
- [27] A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid FeaturesMOLECULAR SYNDROMOLOGY, 2010, 1 (03) : 127 - 132Saha, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USALessel, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med Cologne, Inst Human Genet, Cologne, Germany Univ Cologne, CECAD, Cologne, Germany Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USAHisama, F. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Div Genet, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USALeistritz, D. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USAFriedrich, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med Cologne, Inst Human Genet, Cologne, Germany Univ Cologne, CECAD, Cologne, Germany Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USAMartin, G. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USA论文数: 引用数: h-index:机构:Oshima, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USA Univ Washington, Dept Pathol, Box 357470 1959 NE Pacific St, Seattle, WA 98195 USA
- [28] Thiazolidinedione Response in Familial Lipodystrophy Patients with LMNA Mutations: A Case SeriesHORMONE AND METABOLIC RESEARCH, 2012, 44 (04) : 306 - 311Luedtke, A.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Med, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Anat & Cell Biol, New York, NY 10032 USA Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyBoschmann, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Charite Campus Buch, Expt & Clin Res Ctr, Franz Volhard Clin Res Ctr, Berlin, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyColpe, C.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyEngeli, S.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyAdams, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Charite Campus Buch, Expt & Clin Res Ctr, Franz Volhard Clin Res Ctr, Berlin, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyBirkenfeld, A. L.论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Endocrinol Diabet & Nutr, Berlin, Germany German Inst Human Nutr, Potsdam, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyHaufe, S.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyRahn, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Charite Campus Buch, Expt & Clin Res Ctr, Franz Volhard Clin Res Ctr, Berlin, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyLuft, F. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Charite Campus Buch, Expt & Clin Res Ctr, Franz Volhard Clin Res Ctr, Berlin, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanySchmidt, H. H. -J.论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Clin Transplant Med, Munster, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, GermanyJordan, J.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, Germany Hannover Med Sch, Inst Clin Pharmacol, D-30625 Hannover, Germany
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- [30] Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/CFRONTIERS IN ENDOCRINOLOGY, 2021, 12Cecchetti, Carolina论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, ItalyD'Apice, M. Rosaria论文数: 0 引用数: 0 h-index: 0机构: Tor Vergata Hosp, Lab Med Genet, Rome, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, ItalyMorini, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Roma Tor Vergata, Dept Biomed & Prevent, Rome, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, ItalyNovelli, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Tor Vergata Hosp, Lab Med Genet, Rome, Italy Univ Roma Tor Vergata, Dept Biomed & Prevent, Rome, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, ItalyPizzi, Carmine论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Bologna, Dept Specialist Diagnost & Expt Med, Unit Cardiol, Bologna, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, ItalyPagotto, Uberto论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, ItalyGambineri, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, Italy Azienda Osped Univ Bologna, Dept Med & Surg Sci DIMEC, Div Endocrinol & Diabet Prevent & Care, Bologna, Italy