复合型结节性硬化病

Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.

de Vries P, Humphrey A, McCartney D, et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry. 2005 Jul;14(4):183-90.

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Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010 Nov 4;363(19):1801-11.

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McCormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595-606.

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Dabora S; Dana-Farber Cancer Institute. Sirolimus in treating patients with angiomyolipoma of the kidney. October 2008 [internet publication].

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Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007 Apr;48(4):617-30.

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Jansen FE, van Huffelen AC, Algra A, et al. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia. 2007 Aug;48(8):1477-84.

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Berhouma M. Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr. 2010 May;6(2):103-10.

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1.  Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.

2.  Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5.

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3.  European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305-1315.

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4.  van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-808.

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5.  Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet. 2001;68:64-80.

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6.  Cheadle J, Reeve M, Samson J, et al. Molecular genetic advances in tuberous sclerosis. Hum Genet. 2000;62:345-357.

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7.  Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88-100.

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8.  Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571-13576.

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9.  Mak BC, Yeung RS. The tuberous sclerosis complex genes in tumor development. Cancer Invest. 2004;22:588-603.

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10.  Gipson TT, Johnston MV. Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders. Neural Plast. 2012;2012:486402.

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11.  Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):680-6.

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12.  Koh S, Hayaker P, Dunoyer C, et al. Epilepsy surgery in children with tuberous sclerosis complex: presurgical evaluation and outcome. Epilepsia. 2000 Sep;41(9):1206-13.

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13.  DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):650-7.

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14.  Devroede G, Lemieux B, Masse S, et al. Colonic hamartomas in tuberous sclerosis. Gastroenterology. 1988 Jan;94(1):182-8.

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15.  Wiznitzer M. Autism and tuberous sclerosis. J Child Neurol. 2004 Sep;19(9):675-9.

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16.  Prather P, de Vries PJ. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):666-74.

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17.  The European Consortium on MEN1: Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics. 1997 Aug 15;44(1):94-100.

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18.  Franz DN. Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):690-8.

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19.  Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255-65.

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20.  de Vries P, Humphrey A, McCartney D, et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry. 2005 Jul;14(4):183-90.

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21.  Jie L, Volney S. Periventricular heterotopia. Epilepsy Behav. 2005;9:143-149.

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22.  Parrini E. Periventricular heterotopia; phenotypic heterogeneity and correlation with filamin A mutations. Brain. 2006;129:1892-1906.

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23.  Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Derm. 1997;133:853-857.

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24.  Spring P, Fellmann F, Giraud S, et al. Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases. Am J Dermatopathol. 2013;35:241-245.

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25.  Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):243-54.

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26.  Crane JP, LeFevre ML, Winborn RC, et al. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group. Am J Obstet Gynecol. 1994 Aug;171(2):392-9.

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27.  Gagnon A, Wilson RD, Allen VM, et al; Society of Obstetricians and Gynaecologists of Canada. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009 Sep;31(9):875-881.

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28.  Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010 Nov 4;363(19):1801-11.

• 全文
• 摘要

29.  McCormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595-606.

• 摘要

30.  Dabora S; Dana-Farber Cancer Institute. Sirolimus in treating patients with angiomyolipoma of the kidney. October 2008 [internet publication].

• 全文

31.  Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013 Jan 12;381(9861):125-32.

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32.  Krueger DA, Care MM, Agricola K, et al. Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. Neurology. 2013 Feb 5;80(6):574-80.

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33.  Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet. 2013 Mar 9;381(9869):817-24.

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34.  Koenig MK, Hebert AA, Roberson J, et al. Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs R D. 2012 Sep 1;12(3):121-6.

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35.  Kenerson HL, Aicher LD, True LD, et al. Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res. 2002 Oct 15;62(20):5645-50.

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36.  Garber K. Rapamycin's resurrection: a new way to target the cancer cell cycle. J Natl Cancer Inst. 2001 Oct 17;93(20):1517-9.

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37.  Hidalgo M, Rowinsky EK. The rapamycin-sensitive signal transduction pathway as a target for cancer therapy. Oncogene. 2000 Dec 27;19(56):6680-6.

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38.  Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008 Jan 10;358(2):140-51.

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39.  Sasongko TH, Ismail NF, Zabidi-Hussin Z. Rapamycin and rapalogs for tuberous sclerosis complex. Cochrane Database Syst Rev. 2016;(7):CD011272.

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40.  Dabora SL, Franz DN, Ashwal S, et al. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF-D levels decrease. PLoS One. 2011;6(9):e23379.

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41.  Bissler J, Franz DN, McCormack FX, et al. Rapamycin therapy of angiomyolipomas in patients with TSC and sporadic LAM. Unpublished data presented at TSC Conference. September 2004; Cambridge, UK.

42.  Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest. 1998 Dec;114(6):1689-703.

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43.  Niedermeyer J. Rapamycin for recurrent LAM following lung transplantation - a first experience. Paper presented at LAM Foundation Research Conference. April 2003; Cincinnati, OH.

44.  Young L, Lee HS, Inoue Y, et al. Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial. Lancet Respir Med. 2013 Aug;1(6):445-52.

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45.  Karbowniczek M, Astrinidis A, Balsara BR, et al. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med. 2003 Apr 1;167(7):976-82.

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46.  Franz DN, Leonard J, Tudor C. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Neurology. 2006 Mar;59(3):490-8.

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47.  Roth J, Roach ES, Bartels U, et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment - recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr Neurol. 2013 Dec;49(6):439-44.

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48.  Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007 Apr;48(4):617-30.

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49.  Jansen FE, van Huffelen AC, Algra A, et al. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia. 2007 Aug;48(8):1477-84.

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50.  Romanelli P, Verdecchia M, Curatolo P, et al. Epilepsy surgery for tuberous sclerosis. Pediatr Neurol. 2004 Oct;31(4):239-47.

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51.  Weiner HL, Ferraris N, Lajoie J, et al. Epilepsy surgery for children with tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):687-9.

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52.  Zhang K, Hu WH, Zhang C, et al. Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis. Epilepsy Res. 2013 Aug;105(3):377-83.

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53.  Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013;(6):CD001770.

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54.  Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999 Feb;14(2):71-4.

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55.  McCracken JT, McGough J, Shah B, et al. Risperidone in children with autism and serious behavioral problems. N Engl J Med. 2002 Aug 1;347(5):314-21.

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56.  Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 2007 Dec;11(4):506-13.

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57.  Berhouma M. Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr. 2010 May;6(2):103-10.

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58.  Hancock E, O'Callaghan F, English J, et al. Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin. J Child Neurol. 2005;20:21-25.

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59.  Wienecke R, Fackler I, Akdeli N, et al. Effective treatment of TSC with rapamycin. Unpublished data presented at TSC Conference. September 2004; Cambridge, UK.