Journal of Peking University(Health Sciences) ›› 2017, Vol. 49 ›› Issue (5): 760-767. doi: 10.3969/j.issn.1671-167X.2017.05.004
• Article • Previous Articles Next Articles
WANG Fang, ZHANG Yan-qin, DING Jie, YU Li-xia
CLC Number:
[1] Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males[J]. J Am Soc Nephrol, 2000, 11(4): 649-657. [2] Wang F, Zhao D, Ding J, et al. Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport’s syndrome[J]. J Mol Diagn, 2012, 14(6): 586-593. [3] Kashtan CE, Ding J, Gregory M, et al. Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport syndrome research collaborative[J]. Pediatr Nephrol, 2013, 28(1): 5-11. [4] Bekheirnia MR, Reed B, Gregory MC, et al. Genotype-phenotype correlation in X-linked Alport syndrome[J]. J Am Soc Nephrol, 2010, 21(5): 876-883. [5] Cheong HI, Park HW, Ha IS, et al. Mutational analysis of COL4A5 gene in Korean Alport syndrome[J]. Pediatr Nephrol, 2000, 14(2): 117-121. [6] Kawai S, Nomura S, Harano T. The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network[J]. Kidney Int, 1996, 49(3): 814-822. [7] Ceulemans S, van der Ven K, del-Favero J. Targeted screening and validation of copy number variations[J]. Methods Mol Biol, 2012, 838: 311-328. [8] 张琰琴,赵丹,俞礼霞, 等. 多重连接依赖性探针扩增技术在X连锁Alport综合征基因诊断中的应用[J].中华医学杂志, 2012, 92(40): 2825-2829. [9] Hertz JM, Juncker I, Marcussen N. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome[J]. Clin Genet, 2008, 74(6): 522-530. [10] Nabais Sá MJ, Fieremans N, de Brouwer APM, et al. Deletion of the 5' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome[J]. J Med Genet, 2013, 50(11): 745-753. [11] Nozu K, Minamikawa S, Yamada S, et al. Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis[J]. J Hum Genet, 2017, 62(7): 733-735. [12] Nabais Sá MJ, Sampaio S, Oliveira A, et al. Collagen type Ⅳ-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families[J]. Clin Genet, 2015, 88(5): 462-467. [13] Weber S, Strasser K, Rath S, et al. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy[J]. Pediatr Nephrol, 2016, 31(6): 941-955. [14] Du R, Lu C, Jiang Z, et al. Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification[J]. J Hum Genet, 2012, 57(8): 545-551. [15] Wang F, Ding J, Guo S, et al. Phenotypic and genotypic features of Alport syndrome in Chinese children[J]. Pediatr Nephrol, 2000, 17(12): 1013-1020. [16] Martin P, Heiskari N, Zhou J, et al. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing[J]. J Am Soc Nephrol, 1998, 9(12): 2291-2301. [17] Savige J, Gregory M, Gross O, et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy[J]. J Am Soc Nephrol, 2013, 24(3): 364-375. [18] Dahan K, Heidet L, Zhou J, et al. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females[J]. Kidney Int, 1995, 48(6): 1900-1906. [19] Thielen BK, Barker DF, Nelson RD, et al. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth[J]. Hum Mutat, 2003, 22(5): 419. |
[1] | . [J]. Journal of Peking University(Health Sciences), 2017, 49(5): 927-929. |
[2] | WANG Fang, ZHANG Yan-qin, DING Jie, YU Li-xia. Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction [J]. Journal of Peking University(Health Sciences), 0, (): 760-767. |
[3] | HAN Ye, DU Si-qian, XIAO Hui-jie, ZHOU Ying, DING Jie, DING Juan-juan, CUI Yi-min. Pharmacokinetics of once daily prolonged-release formulation of tacrolimus in child-ren with primary nephrotic syndrome#br# [J]. Journal of Peking University(Health Sciences), 0, (): 807-813. |
[4] | HAN Ye, DU Si-qian, XIAO Hui-jie, ZHOU Yin, DING Jie, DING Juan-juan, CUI Yi-min. Pharmacokinetics of once daily prolonged-release formulation of tacrolimus in child-ren with primary nephrotic syndrome [J]. Journal of Peking University(Health Sciences), 2017, 49(5): 807-813. |
[5] | . [J]. Journal of Peking University(Health Sciences), 0, (): 0-封三. |
|