共 5 条
- [1] The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders[J]. HUMAN MUTATION, 2008, 29 (08) : 992 - 1006Aoki, Yoko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan论文数: 引用数: h-index:机构:Narumi, Yoko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanKure, Shigeo论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanMatsubara, Yoichi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan
- [2] Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair[J]. NATURE GENETICS, 2009, 41 (09) : 1022 - U95Cordeddu, Viviana论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyDi Schiavi, Elia论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet & Biofis A Buzzati Traverso, Naples, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyPennacchio, Len A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Berkeley, Lawrence Berkeley Lab, Genom Div, Berkeley, CA 94720 USA US DOE, Joint Genome Inst, Walnut Creek, CA USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyMa'ayan, Avi论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Pharmacol & Syst Therapeut, SBCNY, New York, NY USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalySarkozy, Anna论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Rotondo & Ist Mendel, Ist Ricovero & Cura Carattere Sci Casa Sollievo S, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyFodale, Valentina论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Expt Med, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyCecchetti, Serena论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Biol Cellulare & Neurosci, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyCardinale, Alessio论文数: 0 引用数: 0 h-index: 0机构: IRCCS San Raffaele Pisana, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyMartin, Joel论文数: 0 引用数: 0 h-index: 0机构: US DOE, Joint Genome Inst, Walnut Creek, CA USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalySchackwitz, Wendy论文数: 0 引用数: 0 h-index: 0机构: US DOE, Joint Genome Inst, Walnut Creek, CA USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyLipzen, Anna论文数: 0 引用数: 0 h-index: 0机构: US DOE, Joint Genome Inst, Walnut Creek, CA USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyZampino, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Ist Clin Pediat, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyMazzanti, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Pediat, Bologna, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyDigilio, Maria C.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Sez Genet Med, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyMartinelli, Simone论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyFlex, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyLepri, Francesca论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Rotondo & Ist Mendel, Ist Ricovero & Cura Carattere Sci Casa Sollievo S, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyBartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Hamburg Eppendorf, Inst Humangenet, Hamburg, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy论文数: 引用数: h-index:机构:Anichini, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dipartimento Pediat Ostetr & Med Riproduz, I-53100 Siena, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Milano, IRCCS, Clin Pediat 1, Milan, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyRossi, Cesare论文数: 0 引用数: 0 h-index: 0机构: St Orsola Marcello Malpighi Hosp, Unita Operat Genet Med, Bologna, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyTenconi, Romano论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dipartimento Pediat, I-35128 Padua, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Univ Hosp Erlangen, D-8520 Erlangen, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyMerlo, Daniela论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Biol Cellulare & Neurosci, I-00161 Rome, Italy IRCCS San Raffaele Pisana, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyDallapiccola, Bruno论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Rotondo & Ist Mendel, Ist Ricovero & Cura Carattere Sci Casa Sollievo S, Rome, Italy Univ Roma La Sapienza, Dept Expt Med, Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyIyengar, Ravi论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Pharmacol & Syst Therapeut, SBCNY, New York, NY USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyBazzicalupo, Paolo论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet & Biofis A Buzzati Traverso, Naples, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyGelb, Bruce D.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Ctr Mol Cardiol, New York, NY USA Mt Sinai Sch Med, Dept Pediat, New York, NY USA Mt Sinai Sch Med, Dept Genet, New York, NY USA Mt Sinai Sch Med, Dept Genom Sci, New York, NY USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy
- [3] Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome[J]. HUMAN MOLECULAR GENETICS, 2019, 28 (03) : 501 - 514Jang, Hyein论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USAOakley, Erin论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USAForbes-Osborne, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Biol, Lexington, KY 40506 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USAKesler, Melissa V.论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Div Pathol & Lab Med, Lexington, KY 40536 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USANorcross, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USAMorris, Ann C.论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Biol, Lexington, KY 40506 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USAGalperin, Emilia论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA
- [4] Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies[J]. JOURNAL OF HUMAN GENETICS, 2010, 55 (12) : 801 - 809Komatsuzaki, Shoko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanAoki, Yoko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan论文数: 引用数: h-index:机构:Okamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Med Genet, Osaka, Japan Res Inst Maternal & Child Hlth, Osaka, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanHennekam, Raoul C. M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Clin & Mol Genet Unit, Inst Child Hlth, Great Ormond St Hosp Children, London, England Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanHopman, Saskia论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Pediat Oncol, Emma Childrens Hosp, NL-1105 AZ Amsterdam, Netherlands Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanOhashi, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Saitama Childrens Med Ctr, Div Med Genet, Saitama, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanMizuno, Seiji论文数: 0 引用数: 0 h-index: 0机构: Cent Hosp, Aichi Human Serv Ctr, Dept Pediat, Aichi, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanWatanabe, Yoriko论文数: 0 引用数: 0 h-index: 0机构: Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 830, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanKamasaki, Hotaka论文数: 0 引用数: 0 h-index: 0机构: Sapporo Med Univ, Dept Pediat, Sapporo, Hokkaido, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanKondo, Ikuko论文数: 0 引用数: 0 h-index: 0机构: Oida Hosp, Div Pediat, Kochi, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanMoriyama, Nobuko论文数: 0 引用数: 0 h-index: 0机构: Mito Gen Hosp, Hitachi Ltd, Dept Pediat, Ibaraki, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanKurosawa, Kenji论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanKawame, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Ochanomizu Univ, Dept Genet Counseling, Tokyo 112, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanOkuyama, Ryuhei论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Dermatol, Matsumoto, Nagano 390, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanImaizumi, Masue论文数: 0 引用数: 0 h-index: 0机构: Miyagi Childrens Hosp, Dept Hematol & Oncol, Sendai, Miyagi, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanRikiishi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanTsuchiya, Shigeru论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanKure, Shigeo论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, JapanMatsubara, Yoichi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan
- [5] Mutation and Phenotypic Spectrum of Patients With RASopathies[J]. INDIAN PEDIATRICS, 2021, 58 (01) : 30 - 33Lallar, Meenakshi论文数: 0 引用数: 0 h-index: 0机构: Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, IndiaBijarnia-Mahay, Sunita论文数: 0 引用数: 0 h-index: 0机构: Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, IndiaVerma, I. C.论文数: 0 引用数: 0 h-index: 0机构: Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, IndiaMandal, Kaushik论文数: 0 引用数: 0 h-index: 0机构: Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Lucknow, Uttar Pradesh, India Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, IndiaPuri, Ratna Dua论文数: 0 引用数: 0 h-index: 0机构: Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India