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- [21] A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotypeJOURNAL OF MEDICAL GENETICS, 2013, 50 (12) : 838 - 847Zweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyKraus, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyBrueton, Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyCole, Trevor论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp Healthcare NHS Trust, Birmingham, W Midlands, England Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyDegenhardt, Franziska论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyGraul-Neumann, Luitgard论文数: 0 引用数: 0 h-index: 0机构: Charite Campus Virchow, Ambulantes Gesundheitszentrum, Berlin, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyHorn, Denise论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med & Human Genet, D-13353 Berlin, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyHoyer, Juliane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyJust, Walter论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, D-89069 Ulm, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany论文数: 引用数: h-index:机构:Reis, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyWollnik, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, CMMC, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyZeschnigk, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyLuedecke, Hermann-Josef论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany
- [22] PHF6 mutations in T-cell acute lymphoblastic leukemiaNature Genetics, 2010, 42 : 338 - 342Pieter Van Vlierberghe论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyTeresa Palomero论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyHossein Khiabanian论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyJoni Van der Meulen论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyMireia Castillo论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyNadine Van Roy论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyBarbara De Moerloose论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyJan Philippé论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologySara González-García论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyMaría L Toribio论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyTom Taghon论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyLinda Zuurbier论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyBarbara Cauwelier论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyChristine J Harrison论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyClaire Schwab论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyMarkus Pisecker论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologySabine Strehl论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyAnton W Langerak论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyJozef Gecz论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyEdwin Sonneveld论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyRob Pieters论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyElisabeth Paietta论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyJacob M Rowe论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyPeter H Wiernik论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyYves Benoit论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyJean Soulier论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyBruce Poppe论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyXiaopan Yao论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyCarlos Cordon-Cardo论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyJules Meijerink论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyRaul Rabadan论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyFrank Speleman论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/HematologyAdolfo Ferrando论文数: 0 引用数: 0 h-index: 0机构: Institute for Cancer Genetics,Department of Pediatric Oncology/Hematology
- [23] PHF6 mutations in T-cell acute lymphoblastic leukemiaNATURE GENETICS, 2010, 42 (04) : 338 - U95论文数: 引用数: h-index:机构:Palomero, Teresa论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USA Columbia Univ, Dept Pathol, Med Ctr, New York, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAKhiabanian, Hossein论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Ctr Computat Biol & Bioinformat, New York, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USA论文数: 引用数: h-index:机构:Castillo, Mireia论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol, Med Ctr, New York, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAVan Roy, Nadine论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USADe Moerloose, Barbara论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pediat Hemato Oncol, B-9000 Ghent, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAPhilippe, Jan论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Clin Chem Immunol & Microbiol, B-9000 Ghent, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAGonzalez-Garcia, Sara论文数: 0 引用数: 0 h-index: 0机构: UAM, CSIC, Ctr Biol Mol Severo Ochoa, Madrid, Spain Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAToribio, Maria L.论文数: 0 引用数: 0 h-index: 0机构: UAM, CSIC, Ctr Biol Mol Severo Ochoa, Madrid, Spain Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USA论文数: 引用数: h-index:机构:Zuurbier, Linda论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Pediat Oncol Hematol, Rotterdam, Netherlands Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USACauwelier, Barbara论文数: 0 引用数: 0 h-index: 0机构: Hosp St Jan, Dept Hematol, Brugge, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAHarrison, Christine J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Leukaemia Res Cytogenet Grp, No Inst Canc Res, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USASchwab, Claire论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Leukaemia Res Cytogenet Grp, No Inst Canc Res, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAPisecker, Markus论文数: 0 引用数: 0 h-index: 0机构: St Anna Childrens Hosp, Childrens Canc Res Inst, A-1090 Vienna, Austria Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAStrehl, Sabine论文数: 0 引用数: 0 h-index: 0机构: St Anna Childrens Hosp, Childrens Canc Res Inst, A-1090 Vienna, Austria Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USALangerak, Anton W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Immunol, Rotterdam, Netherlands Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAGecz, Jozef论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Dept Genet & Mol Pathol, Adelaide, SA, Australia Univ Adelaide, Dept Pediat, Adelaide, SA, Australia Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USASonneveld, Edwin论文数: 0 引用数: 0 h-index: 0机构: DCOG, The Hague, Netherlands Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAPieters, Rob论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Pediat Oncol Hematol, Rotterdam, Netherlands DCOG, The Hague, Netherlands Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAPaietta, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Montefiore Med Ctr N, Bronx, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USARowe, Jacob M.论文数: 0 引用数: 0 h-index: 0机构: Rambam Med Ctr, Haifa, Israel Technion Israel Inst Technol, Haifa, Israel Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAWiernik, Peter H.论文数: 0 引用数: 0 h-index: 0机构: Montefiore Med Ctr N, Bronx, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USABenoit, Yves论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pediat Hemato Oncol, B-9000 Ghent, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USASoulier, Jean论文数: 0 引用数: 0 h-index: 0机构: Hop St Louis, APHP, INSERM, Hematol Lab,U944, Paris, France Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAPoppe, Bruce论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAYao, Xiaopan论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Biostat & Computat Biol, Boston, MA 02115 USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USACordon-Cardo, Carlos论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol, Med Ctr, New York, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAMeijerink, Jules论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Pediat Oncol Hematol, Rotterdam, Netherlands Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USARabadan, Raul论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Ctr Computat Biol & Bioinformat, New York, NY USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USASpeleman, Frank论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USAFerrando, Adolfo论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USA Columbia Univ, Dept Pathol, Med Ctr, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10027 USA
- [24] 1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome familyEUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (10) : 787 - 789Lower, KM论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaSolders, G论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaBondeson, ML论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaNelson, J论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaBrun, A论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaCrawford, J论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaMalm, G论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaBörjeson, M论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaTurner, G论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaPartington, M论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, AustraliaGécz, J论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, Australia
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- [26] Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome -: art. no. e50JOURNAL OF MEDICAL GENETICS, 2003, 40 (04)Baumstark, A论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, GermanyLower, KM论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, GermanySinkus, A论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, GermanyAndriuskeviciute, I论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, GermanyJurkeniene, L论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, GermanyGécz, J论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, GermanyJust, W论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Abt Humangenet, D-89081 Ulm, Germany
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