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- [1] Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patientEuropean Journal of Human Genetics, 2015, 23 : 870 - 873Denise Emmerich论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryTomasz Zemojtel论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryJochen Hecht论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryPeter Krawitz论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryMalte Spielmann论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryJirko Kühnisch论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryKarolina Kobus论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryMonika Osswald论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryVerena Heinrich论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryPeter Berlien论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryUte Müller论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryVictor-F Mautner论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryKatharina Wimmer论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryPeter N Robinson论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryMartin Vingron论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgerySigrid Tinschert论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryStefan Mundlos论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial SurgeryMateusz Kolanczyk论文数: 0 引用数: 0 h-index: 0机构: FG Development & Disease,Department of Maxillofacial Surgery
- [2] Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patientEUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (06) : 870 - 873Emmerich, Denise论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyZemojtel, Tomasz论文数: 0 引用数: 0 h-index: 0机构: Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, Computat Mol Biol, D-14195 Berlin, Germany Polish Acad Sci, Inst Bioorgan Chem, Poznan, Poland Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyHecht, Jochen论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Berlin Brandenburg Ctr Regenerat Therapies BCRT, Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyKrawitz, Peter论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanySpielmann, Malte论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyKuehnisch, Jirko论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyKobus, Karolina论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyOsswald, Monika论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyHeinrich, Verena论文数: 0 引用数: 0 h-index: 0机构: Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyBerlien, Peter论文数: 0 引用数: 0 h-index: 0机构: Evangel Elisabeth Clin, Ctr Laser Med, Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyMueller, Ute论文数: 0 引用数: 0 h-index: 0机构: Evangel Elisabeth Clin, Ctr Laser Med, Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyMautner, Victor-F论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Eppendorf, Dept Maxillofacial Surg, Hamburg, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyWimmer, Katharina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyRobinson, Peter N.论文数: 0 引用数: 0 h-index: 0机构: Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyVingron, Martin论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Computat Mol Biol, D-14195 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyTinschert, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria Tech Univ, Carl Gustav Carus Med Acad, Inst Clin Genet, Dresden, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyMundlos, Stefan论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Berlin Brandenburg Ctr Regenerat Therapies BCRT, Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, GermanyKolanczyk, Mateusz论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Bereich Med Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany
- [3] Somatic NF1 inactivation is a frequent event in sporadic pheochromocytomaHUMAN MOLECULAR GENETICS, 2012, 21 (26) : 5397 - 5405Burnichon, Nelly论文数: 0 引用数: 0 h-index: 0机构: Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, F-75006 Paris, France Hop Europeen Georges Pompidou, Assistance Publ Hop Paris, Serv Genet, F-75015 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceBuffet, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, F-75006 Paris, France Hop Europeen Georges Pompidou, Assistance Publ Hop Paris, Serv Genet, F-75015 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceParfait, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Fac Sci Pharmaceut & Biol, INSERM,UMR745, F-75006 Paris, France Hop Cochin, Assistance Publ Hop Paris, Serv Biochim & Genet Mol, F-75014 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceLetouze, Eric论文数: 0 引用数: 0 h-index: 0机构: Ligue Natl Canc, Programme Cartes Ident Tumeurs, F-75013 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceLaurendeau, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, Assistance Publ Hop Paris, Serv Biochim & Genet Mol, F-75014 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceLoriot, Celine论文数: 0 引用数: 0 h-index: 0机构: Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, F-75006 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FrancePasmant, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Fac Sci Pharmaceut & Biol, INSERM,UMR745, F-75006 Paris, France Hop Cochin, Assistance Publ Hop Paris, Serv Biochim & Genet Mol, F-75014 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceAbermil, Nassera论文数: 0 引用数: 0 h-index: 0机构: Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, F-75006 Paris, France Hop Europeen Georges Pompidou, Assistance Publ Hop Paris, Serv Genet, F-75015 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceValeyrie-Allanore, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, Assistance Publ Hop Paris, Ctr Reference Neurofibromatoses, F-94010 Creteil, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Vidaud, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Fac Sci Pharmaceut & Biol, INSERM,UMR745, F-75006 Paris, France Hop Cochin, Assistance Publ Hop Paris, Serv Biochim & Genet Mol, F-75014 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceFavier, Judith论文数: 0 引用数: 0 h-index: 0机构: Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, F-75006 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, FranceGimenez-Roqueplo, Anne-Paule论文数: 0 引用数: 0 h-index: 0机构: Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, F-75006 Paris, France Hop Europeen Georges Pompidou, Assistance Publ Hop Paris, Serv Genet, F-75015 Paris, France Natl Canc Inst, Rare Adrenal Canc Network Cortico Medullosurrenal, F-75014 Paris, France Paris Cardiovasc Res Ctr, INSERM, UMR970, F-75015 Paris, France
- [4] Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum DeformityHUMAN MUTATION, 2023, 2023Chelleri, Cristina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyDe Marco, Patrizia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyGuerriero, Vittorio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Thorac & Airway Surg Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Surg Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyOgnibene, Marzia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyMadia, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyGuerrisi, Sara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyDi Duca, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyTorre, Michele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Thorac & Airway Surg Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Surg Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyTamburro, Serena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyScudieri, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyPiccolo, Gianluca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyMattioli, Girolamo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Thorac & Airway Surg Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyBuffelli, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Clin Pathol Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyUva, Paolo论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Genom Facil, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyVozzi, Diego论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unita Bioinformat Clin, Direz Sci, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyFulcheri, Ezio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Clin Pathol Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyDiana, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, ItalyZara, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy
- [5] Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytomaGENOME RESEARCH, 2013, 23 (03) : 431 - 439Gutmann, David H.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Washington Univ, Sch Med, Alvin J Siteman Canc Ctr, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAMcLellan, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAHussain, Ibrahim论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAWallis, John W.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAFulton, Lucinda L.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAFulton, Robert S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAMagrini, Vincent论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USADemeter, Ryan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA论文数: 引用数: h-index:机构:Kandoth, Cyriac论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USALeonard, Jeffrey R.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Div Neurosurg, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAGuha, Abhijit论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Labatt Brain Tumor Ctr, Dept Neurosurg, Toronto, ON M5G 1X8, Canada Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAMiller, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USADing, Li论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USAMardis, Elaine R.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Alvin J Siteman Canc Ctr, St Louis, MO 63110 USA Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA
- [6] Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibromaINTERNATIONAL JOURNAL OF CANCER, 2005, 117 (06) : 1055 - 1057Storlazzi, CT论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Genet & Microbiol, I-70126 Bari, Italy Univ Bari, Dept Genet & Microbiol, I-70126 Bari, ItalyVon Steyern, FV论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Genet & Microbiol, I-70126 Bari, ItalyDomanski, HA论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Genet & Microbiol, I-70126 Bari, ItalyMandahl, N论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Genet & Microbiol, I-70126 Bari, ItalyMertens, F论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Genet & Microbiol, I-70126 Bari, Italy
- [7] Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasEuropean Journal of Human Genetics, 2012, 20 : 411 - 419Laura Thomas论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsGill Spurlock论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsClaire Eudall论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsNick S Thomas论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsMatthew Mort论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsStephen E Hamby论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsNadia Chuzhanova论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsHilde Brems论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsEric Legius论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsDavid N Cooper论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human GeneticsMeena Upadhyaya论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical Genetics,Department of Human Genetics
- [8] The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromasneurogenetics, 2009, 10 : 251 - 263Meena Upadhyaya论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsGill Spurlock论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsLan Kluwe论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsNadia Chuzhanova论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsEmma Bennett论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsNick Thomas论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsAbhijit Guha论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical GeneticsVictor Mautner论文数: 0 引用数: 0 h-index: 0机构: Cardiff University,Institute of Medical Genetics
- [9] The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromasNEUROGENETICS, 2009, 10 (03) : 251 - 263Upadhyaya, Meena论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesSpurlock, Gill论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesKluwe, Lan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Eppendorf, Lab Tumor Biol & Dev Disorders, Dept Maxillofacial Surg, D-20246 Hamburg, Germany Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales论文数: 引用数: h-index:机构:Bennett, Emma论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesThomas, Nick论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesGuha, Abhijit论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Western Hosp, Toronto, ON M5G 1X8, Canada Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesMautner, Victor论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Eppendorf, Lab Tumor Biol & Dev Disorders, Dept Maxillofacial Surg, D-20246 Hamburg, Germany Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
- [10] Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastomaAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 118A (04): : 309 - 313Origone, P论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Ric Canc, Adv Biotechnol Ctr, Lab Tumor Genet, I-16132 Genoa, ItalyDefferrari, R论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Ric Canc, Adv Biotechnol Ctr, Lab Tumor Genet, I-16132 Genoa, ItalyMazzocco, K论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Ric Canc, Adv Biotechnol Ctr, Lab Tumor Genet, I-16132 Genoa, ItalyLo Cunsolo, C论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Ric Canc, Adv Biotechnol Ctr, Lab Tumor Genet, I-16132 Genoa, ItalyDe Bernardi, B论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Ric Canc, Adv Biotechnol Ctr, Lab Tumor Genet, I-16132 Genoa, ItalyTonini, GP论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Ric Canc, Adv Biotechnol Ctr, Lab Tumor Genet, I-16132 Genoa, Italy