| [1] |
段小红. 口腔遗传病学[M]. 北京: 人民卫生出版社, 2012: 15-16.
|
| [2] |
|
| [3] |
段小红. 骨硬化症和CLCN7[J]. 口腔生物医学, 2017, 8(2): 57-59.
|
| [4] |
Zhang Y, Ji D, Li L, et al. ClC-7 regulates the pattern and early development of craniofacial bone and tooth[J]. Theranostics, 2019, 9(5): 1387-1400.
doi: 10.7150/thno.29761
pmid: 30867839
|
| [5] |
Tan TY, Kilpatrick N, Farlie PG. Developmental and genetic perspectives on Pierre Robin sequence[J]. Am J Med Genet C Semin Med Genet, 2013, 163C(4): 295-305.
|
| [6] |
Stalker HJ, Gray BA, Zori RT. Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects[J]. Am J Med Genet, 2001, 103(4): 339-341.
doi: 10.1002/(ISSN)1096-8628
URL
|
| [7] |
Hill-Harfe KL, Kaplan L, Stalker HJ, et al. Fine mapping of chromosome 17 translocation breakpoints >or=900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia[J]. Am J Hum Genet, 2005, 76(4): 663-671.
pmid: 15717285
|
| [8] |
Hagleitner MM, Lankester A, Maraschio P, et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)[J]. J Med Genet, 2008, 45(2): 93-99.
doi: 10.1136/jmg.2007.053397
pmid: 17893117
|
| [9] |
段小红. 口腔遗传性疾病的临床诊断[J]. 中华口腔医学杂志, 2015, 50(1):50-52.
|
| [10] |
Kaye CI, Martin AO, Rollnick BR, et al. Oculoauriculovertebral anomaly: segregation analysis[J]. Am J Med Genet, 1992, 43(6):913-917.
doi: 10.1002/ajmg.v43:6
URL
|
| [11] |
Lopez E, Berenguer M, Tingaud-Sequeira A, et al. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS[J]. J Med Genet, 2016, 53(11):752-760.
doi: 10.1136/jmedgenet-2016-103774
URL
|
| [12] |
Fischer S, Lüdecke HJ, Wieczorek D, et al. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum[J]. Hum Mol Genet, 2006, 15(4):581-587.
pmid: 16407370
|
| [13] |
Pallos D, Hart PS, Cortelli JR, et al. Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta[J]. Arch Oral Biol, 2001, 46(5): 459-470.
doi: 10.1016/s0003-9969(00)00130-8
pmid: 11286811
|
| [14] |
Duan X, Liu Z, Gan Y, et al. Mutations in COL1A1 gene change dentin nanostructure[J]. Anat Rec (Hoboken), 2016, 299(4): 511-519.
doi: 10.1002/ar.v299.4
URL
|
| [15] |
Mannens M, Hoovers JM, Redeker E, et al. Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia[J]. Eur J Hum Genet, 1994, 2(1): 3-23.
pmid: 7913866
|
| [16] |
Ohlsson R, Nystrom A, Pfeifer-Ohlsson S, et al. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome[J]. Nat Genet, 1993, 4(1): 94-97.
pmid: 8513333
|
| [17] |
Gicquel C, Rossignol S, Cabrol S, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome[J]. Nat Genet, 2005, 37(9): 1003-1007.
pmid: 16086014
|
| [18] |
Bosch X. European researchers, drug companies join forces against rare diseases[J]. JAMA, 2005, 294(16): 2014-2015.
pmid: 16249407
|
| [19] |
Mailankody S, Prasad V. Pharmaceutical marketing for rare diseases: regulating drug company promotion in an era of unprecedented advertisement[J]. JAMA, 2017, 317(24): 2479-2480.
doi: 10.1001/jama.2017.5784
pmid: 28520871
|
| [20] |
Aubourg P. Gene therapy for rare central nervous system diseases comes to age[J]. Endocr Dev, 2016, 30: 141-146.
doi: 10.1159/000439339
pmid: 26684481
|
| [21] |
O'Reilly M, Kohn DB, Bartlett J, et al. Gene therapy for rare diseases: summary of a national institutes of health workshop, September 13, 2012[J]. Hum Gene Ther, 2013, 24(4): 355-362.
doi: 10.1089/hum.2013.064
pmid: 23517518
|
| [22] |
Stirnadel-Farrant H, Kudari M, Garman N, et al. Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in Ada-SCID[J]. Orphanet J Rare Dis, 2018, 13(1): 49.
doi: 10.1186/s13023-018-0791-9
pmid: 29625577
|
| [23] |
Neural stem cell-mediated therapy for rare brain diseases: perspectives in the near future for LSDs and MNDs[J]. Histol Histopathol, 2011, 26(8): 1093-1109.
doi: 10.14670/HH-26.1093
pmid: 21692041
|
| [24] |
Freeman SN, Burke KA, Imoisili MA, et al. The Orphan Drug Act and the development of stem cell-based products for rare diseases[J]. Cell Stem Cell, 2010, 7(3): 283-287.
doi: 10.1016/j.stem.2010.08.003
pmid: 20804965
|
| [25] |
Xue Y, Wang W, Mao T, et al. Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia[J]. J Craniomaxillofac Surg, 2012, 40(5): 416-420.
doi: 10.1016/j.jcms.2011.07.014
pmid: 21962762
|
| [26] |
段小红. 常见遗传性颅颌骨疾病[J]. 中华口腔医学杂志, 2015, 50(5):315-317.
|
| [27] |
Jiao Y, Zhou M, Yang Y, et al. Cherubism misdiagnosed as giant cell tumor: a case report and review of literature[J]. Int J Clin Exp Med, 2015, 8(3): 4656-4663.
pmid: 26064398
|
| [28] |
Sieff CA, Chessells JM, Levinsky RJ, et al. Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis[J]. Lancet, 1983, 1(8322): 437-441.
pmid: 6131166
|
| [29] |
Fischer A, Griscelli C, Friedrich W, et al. Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985[J]. Lancet, 1986, 2(8515): 1080-1084.
pmid: 2877234
|
| [30] |
邬伶仟, 张学. 医学遗传学[M]. 北京: 人民卫生出版社, 2016: 78-79.
|