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- [1] A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2[J]. NATURE GENETICS, 2005, 37 (03) : 275 - 281Loeys, BL论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAChen, JJ论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USANeptune, ER论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAJudge, DP论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAPodowski, M论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAHolm, T论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAMeyers, J论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USALeitch, CC论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAKatsanis, N论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USASharifi, N论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAXu, FL论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAMyers, LA论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USASpevak, PJ论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USACameron, DE论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USADe Backer, J论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAHellemans, J论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAChen, Y论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USADavis, EC论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAWebb, CL论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAKress, W论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USACoucke, P论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USARifkin, DB论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USADe Paepe, AM论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USADietz, HC论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA
- [2] HNPCC associated with germline mutation in the TGF-β type II receptor gene[J]. NATURE GENETICS, 1998, 19 (01) : 17 - 18Lu, SL论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, JapanKawabata, M论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, JapanImamura, T论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, JapanAkiyama, Y论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, JapanNomizu, T论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, JapanMiyazono, K论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, JapanYuasa, Y论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Bunkyo Ku, Tokyo 113, Japan
- [3] Heterozygous TGFBR2 mutations in Marfan syndrome[J]. NATURE GENETICS, 2004, 36 (08) : 855 - 860Mizuguchi, T论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanCollod-Beroud, G论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanAkiyama, T论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanAbifadel, M论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanHarada, N论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanMorisaki, T论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanAllard, D论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanVarret, M论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanClaustres, M论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanMorisaki, H论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanIhara, M论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanKinoshita, A论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanYoshiura, K论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanJunien, C论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanKajii, T论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanJondeau, G论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanOhta, T论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanKishino, T论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanFurukawa, Y论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanNakamura, Y论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanNiikawa, N论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanBoileau, C论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, Japan Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, JapanMatsumoto, N论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, Japan
- [4] Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome[J]. PEDIATRICS INTERNATIONAL, 2000, 42 (05) : 488 - 491Oh, MR论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, Seoul 135710, South KoreaKim, JS论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, Seoul 135710, South KoreaBeck, NS论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, Seoul 135710, South KoreaLee, HJ论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, Seoul 135710, South KoreaKohsaka, T论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, Seoul 135710, South KoreaJin, DK论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, Seoul 135710, South Korea