共 7 条
- [1] Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedemaCLINICAL GENETICS, 2018, 94 (01) : 179 - 181Fastre, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumLanteigne, L-E.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumHelaers, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumGiacalone, G.论文数: 0 引用数: 0 h-index: 0机构: AZ Sint Maarten, Lymfectr, Mechelen, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumRevencu, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, Clin Univ St Luc, Ctr Human Genet, Brussels, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumDionyssiou, D.论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Papageorgiou Hosp, Dept Plast Surg, Thessaloniki, Greece Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumDemiri, E.论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Papageorgiou Hosp, Dept Plast Surg, Thessaloniki, Greece Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumBrouillard, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, BelgiumVikkula, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, Belgium Univ Louvain, WELB, Bussels, Belgium Univ Louvain, de Duve Inst, Human Mol Genet, Ave Hippocrate 74,Bp 75-39, B-1200 Brussels, Belgium
- [2] Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancerBMC MEDICAL GENETICS, 2017, 18Bartram, Malte P.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyMishra, Tripti论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyReintjes, Nadine论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyFabretti, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyGharbi, Hakam论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyAdam, Alexander C.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Pathol, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyGoebel, Heike论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyFranke, Mareike论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Pathol, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Radiol, Kerpener Str 62, D-50937 Cologne, Germany Dr Hancken Clin, Harsefelder Str 8, D-21680 Stade, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanySchermer, Bernhard论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, Cologne, Germany Univ Cologne, Syst Biol Ageing Cologne Sybacol, Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyHaneder, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Radiol, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyBenzing, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, Cologne, Germany Univ Cologne, Syst Biol Ageing Cologne Sybacol, Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyBeck, Bodo B.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, GermanyMueller, Roman-Ulrich论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Kerpener Str 62, D-50937 Cologne, Germany Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, Cologne, Germany Univ Cologne, Syst Biol Ageing Cologne Sybacol, Cologne, Germany Univ Cologne, Dept Internal Med 2, Kerpener Str 62, D-50937 Cologne, Germany
- [3] A novel 3′ splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2011, 404 (04) : 1099 - 1104Cher, T. H. Bernard论文数: 0 引用数: 0 h-index: 0机构: Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, Singapore Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeChan, Hwee Sing论文数: 0 引用数: 0 h-index: 0机构: Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, Singapore Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeKlein, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Elisabethinen Hosp, Dept Dermatol, Linz, Austria Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeJabkowski, Joerg论文数: 0 引用数: 0 h-index: 0机构: Elisabethinen Hosp, Dept Dermatol, Linz, Austria Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeSchadenboeck-Kranz, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Hosp Steyr, Dept Pediat, Steyr, Austria Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeZach, Otto论文数: 0 引用数: 0 h-index: 0机构: Elisabethinen Hosp, Dept Internal Med 1, Linz, Austria Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeRoca, Xavier论文数: 0 引用数: 0 h-index: 0机构: Cold Spring Harbor Lab, Cold Spring Harbor, NY USA Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, SingaporeLaw, S. K. Alex论文数: 0 引用数: 0 h-index: 0机构: Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, Singapore Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, Singapore
- [4] Recessive primary congenital lymphoedema caused by a VEGFR3 mutationJOURNAL OF MEDICAL GENETICS, 2009, 46 (06) : 399 - 404Ghalamkarpour, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Catholique Louvain, Duve Inst, Lab Human Mol Genet, BCHM GEHU, B-1200 Brussels, BelgiumHolnthoner, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Lab Mol Canc Biol, Helsinki, Finland Univ Helsinki, Ludwig Inst Canc Res, Biomedicum Helsinki, Haartman Inst, Helsinki, Finland Univ Helsinki, Helsinki Univ Cent Hosp, Helsinki, Finland Univ Catholique Louvain, Duve Inst, Lab Human Mol Genet, BCHM GEHU, B-1200 Brussels, BelgiumSaharinen, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Lab Mol Canc Biol, Helsinki, Finland Univ Helsinki, Ludwig Inst Canc Res, Biomedicum Helsinki, Haartman Inst, Helsinki, Finland Univ Helsinki, Helsinki Univ Cent Hosp, Helsinki, Finland Univ Catholique Louvain, Duve Inst, Lab Human Mol Genet, BCHM GEHU, B-1200 Brussels, BelgiumBoon, L. M.论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Div Plast Surg, Ctr Vasc Anomalies, B-1200 Brussels, Belgium Univ Catholique Louvain, Duve Inst, Lab Human Mol Genet, BCHM GEHU, B-1200 Brussels, BelgiumMulliken, J. B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Childrens Hosp, Sch Med, Vasc Anomalies Ctr,Dept Plast Surg, Boston, MA 02115 USA Univ Catholique Louvain, Duve Inst, Lab Human Mol Genet, BCHM GEHU, B-1200 Brussels, BelgiumAlitalo, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Lab Mol Canc Biol, Helsinki, Finland Univ Helsinki, Ludwig Inst Canc Res, Biomedicum Helsinki, Haartman Inst, Helsinki, Finland Univ Helsinki, Helsinki Univ Cent Hosp, Helsinki, Finland Univ Catholique Louvain, Duve Inst, Lab Human Mol Genet, BCHM GEHU, B-1200 Brussels, Belgium论文数: 引用数: h-index:机构:
- [5] Decreased Expression in Nuclear Factor-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with ImmunodeficiencyJOURNAL OF CLINICAL IMMUNOLOGY, 2011, 31 (05) : 762 - 772Karakawa, Shuhei论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanTsumura, Miyuki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanMizoguchi, Yoko论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanOhno, Norioki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanYasunaga, Shin'ichiro论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Stem Cell Biol, Res Inst Radiat Biol & Med, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanOhtsubo, Motoaki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Stem Cell Biol, Res Inst Radiat Biol & Med, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanKawai, Tomoki论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pediat, Grad Sch Med, Kyoto, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanNishikomori, Ryuta论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pediat, Grad Sch Med, Kyoto, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanSakaguchi, Takemasa论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Virol, Grad Sch Biomed Sci, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanTakihara, Yoshihiro论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Stem Cell Biol, Res Inst Radiat Biol & Med, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, JapanKobayashi, Masao论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed Sci, Minami Ku, Hiroshima 7348551, Japan
- [6] A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedemaJOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2018, 46 (08) : 3162 - 3171Dai, Ting论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaLi, Bohan论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaHe, Bo论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaYan, Liwei论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaGu, Liqiang论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaLiu, Xiaolin论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaQi, Jian论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaLi, Ping论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R ChinaZhou, Xiang论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg Trauma & Hand Surg, 58 Zhongshan 2nd Rd, Guangzhou 510080, Guangdong, Peoples R China Guangzhou Med Univ, GMU GIBH Joint Sch Life Sci, Guangzhou, Guangdong, Peoples R China
- [7] A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitaliaEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2012, 167 (02) : 209 - 216Breuer, Oded论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, IsraelAbdulhadi-Atwan, Maha论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, IsraelZeligson, Sharon论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Inst Med Genet, Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, IsraelFridman, Hila论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Inst Med Genet, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, IsraelRenbaum, Paul论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Inst Med Genet, Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, IsraelLevy-Lahad, Ephrat论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Inst Med Genet, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, IsraelZangen, David H.论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, Israel Hadassah Hebrew Univ, Div Pediat Endocrinol, Dept Pediat, Med Ctr, IL-91240 Jerusalem, Israel