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- [42] Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the twoCLINICAL IMMUNOLOGY, 2017, 179 : 77 - 80Bravo Garcia-Morato, M.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, Spain La Paz Inst Biomed Res, Lymphocyte Pathophysiol Grp, IdiPAZ, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainGarcia-Minaur, S.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Clin Genet Sect, IdiPAZ, Madrid, Spain Hlth Inst Carlos III, CIBERER, Biomed Res Networking Ctr Rare Dis, Unit 753, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainMolina Garicano, J.论文数: 0 引用数: 0 h-index: 0机构: Navarra Hosp Ctr, Dept Pediat, Pediat Oncol Unit, Pamplona, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainSantos Simarro, F.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Clin Genet Sect, IdiPAZ, Madrid, Spain Hlth Inst Carlos III, CIBERER, Biomed Res Networking Ctr Rare Dis, Unit 753, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainDel Pino Molina, L.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, Spain La Paz Inst Biomed Res, Lymphocyte Pathophysiol Grp, IdiPAZ, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainLopez-Granados, E.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, Spain La Paz Inst Biomed Res, Lymphocyte Pathophysiol Grp, IdiPAZ, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainFerreira Cerdan, A.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, Spain La Paz Inst Biomed Res, Lymphocyte Pathophysiol Grp, IdiPAZ, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, SpainRodriguez Pena, R.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, Spain La Paz Inst Biomed Res, Lymphocyte Pathophysiol Grp, IdiPAZ, Madrid, Spain La Paz Univ Hosp, Dept Clin Immunol, IdiPAZ, Madrid, Spain
- [43] Defining How Oncogenic and Developmental Mutations of PIK3R1 Alter the Regulation of Class IA Phosphoinositide 3-KinasesSTRUCTURE, 2020, 28 (02) : 145 - +Dornan, Gillian L.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, CanadaStariha, Jordan T. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, CanadaRathinaswamy, Manoj K.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, CanadaPowell, Cameron J.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, CanadaBoulanger, Martin J.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, CanadaBurke, John E.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8W 2Y2, Canada
- [44] Epithelial-specific loss of PIK3R1 in a murine model result in endometrial hyperplasiaCLINICAL CANCER RESEARCH, 2024, 30 (05)Harkins, Shannon K.论文数: 0 引用数: 0 h-index: 0Skalski, Hilary J.论文数: 0 引用数: 0 h-index: 0Arendt, Amelia论文数: 0 引用数: 0 h-index: 0Pavliscak, Laura论文数: 0 引用数: 0 h-index: 0Wilson, Mike R.论文数: 0 引用数: 0 h-index: 0Chandler, Ronald L.论文数: 0 引用数: 0 h-index: 0
- [45] De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesNATURE GENETICS, 2012, 44 (08) : 934 - +Riviere, Jean-Baptiste论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAMirzaa, Ghayda M.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAO'Roak, Brian J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USABeddaoui, Margaret论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAAlcantara, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton, E Sussex, England Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAConway, Robert L.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Pediat & Human Dev, E Lansing, MI 48824 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USASt-Onge, Judith论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USASchwartzentruber, Jeremy A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Genome Quebec Innovat Ctr, Montreal, PQ, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USANikkel, Sarah M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Div Genet, Ottawa, ON K1H 8L1, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAWorthylake, Thea论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USASullivan, Christopher T.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAWard, Thomas R.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAButler, Hailly E.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAKramer, Nancy A.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAAlbrecht, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Essen, Dept Human Genet, Essen, Germany Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAArmour, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Queens Univ, Dept Paediat, Kingston, ON, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAArmstrong, Linlea论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USACaluseriu, Oana论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USACytrynbaum, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USADrolet, Beth A.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USALauzon, Julie L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USALin, Angela E.论文数: 0 引用数: 0 h-index: 0机构: MassGen Hosp Children, Dept Med Genet, Boston, MA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAMeschino, Wendy S.论文数: 0 引用数: 0 h-index: 0机构: N York Gen Hosp, Dept Genet, Toronto, ON, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAReggin, James D.论文数: 0 引用数: 0 h-index: 0机构: Providence Sacred Heart Med Ctr, Spokane, WA USA Childrens Hosp, Spokane, WA USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USASaggar, Anand K.论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, Dept Clin Genet, London, England Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USALerman-Sagie, Tally论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Pediat Neurol Unit, Holon, Israel Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAUyanik, Goekhan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAWeksberg, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAZirn, Birgit论文数: 0 引用数: 0 h-index: 0机构: Univ Goettingen, Dept Neuropediat, Gottingen, Germany Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USABeaulieu, Chandree L.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAMajewski, Jacek论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USABulman, Dennis E.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Ottawa Hosp, Res Inst, Ottawa, ON, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAO'Driscoll, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton, E Sussex, England Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAShendure, Jay论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USAGraham, John M., Jr.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USABoycott, Kym M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Div Genet, Ottawa, ON K1H 8L1, Canada Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USADobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Neurol, Seattle, WA 98195 USA Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA
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