结节性硬化症的表型及诊断标准修订 - Suppr

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Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria.

作者信息

Gomez M R

机构信息

Mayo Clinic, Rochester, Minnesota 55905.

出版信息

Ann N Y Acad Sci. 1991;615:1-7. doi: 10.1111/j.1749-6632.1991.tb37742.x.

DOI:10.1111/j.1749-6632.1991.tb37742.x

PMID:2039135

Abstract

摘要

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Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria.

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Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria.

作者信息

Gomez M R

机构信息

Mayo Clinic, Rochester, Minnesota 55905.

出版信息

Ann N Y Acad Sci. 1991;615:1-7. doi: 10.1111/j.1749-6632.1991.tb37742.x.

DOI:10.1111/j.1749-6632.1991.tb37742.x

PMID:2039135

Abstract

摘要

相似文献

Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria.

Ann N Y Acad Sci. 1991;615:1-7. doi: 10.1111/j.1749-6632.1991.tb37742.x.

Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.

J Child Neurol. 2015 Dec;30(14):1871-6. doi: 10.1177/0883073815600871. Epub 2015 Aug 24.

Varieties of expression of tuberous sclerosis.

Neurofibromatosis. 1988;1(5-6):330-8.

Tuberous sclerosis complex and neonatal seizures.

J Child Neurol. 1998 Dec;13(12):619-23. doi: 10.1177/088307389801301205.

Tuberous sclerosis complex: future research directions.

J Child Neurol. 2004 Sep;19(9):631. doi: 10.1177/08830738040190090101.

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association.

J Child Neurol. 1992 Apr;7(2):221-4. doi: 10.1177/088307389200700219.

Tubers, epileptogenic foci, and epileptogenic networks in tuberous sclerosis.

Epilepsia. 2010 Nov;51(11):2357-9. doi: 10.1111/j.1528-1167.2010.02713.x.

Arterial spin labeling shows pre-epileptic tuber hyperperfusion in tuberous sclerosis complex.

Neurology. 2016 May 3;86(18):1744-5. doi: 10.1212/WNL.0000000000002636.

[A case of tuberous sclerosis].

G Ital Dermatol Venereol. 1987 May;122(5):233-8.

Clinical findings of the phakomatoses: tuberous sclerosis.

Neurology. 2005 Nov 22;65(10):E22-3. doi: 10.1212/01.wnl.0000185111.89432.95.

引用本文的文献

Renal angiomyolipomatosis and bleeding aneurysms in a tuberous sclerosis context: selective artery embolization in a girl with end-stage renal failure.

Pediatr Rep. 2020 Aug 6;12(2):8352. doi: 10.4081/pr.2020.8352.

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ACS Omega. 2020 Jul 24;5(30):19131-19139. doi: 10.1021/acsomega.0c02480. eCollection 2020 Aug 4.

Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.

Genes (Basel). 2017 Jan 25;8(2):48. doi: 10.3390/genes8020048.

A novel mouse model of tuberous sclerosis complex (TSC): eye-specific Tsc1-ablation disrupts visual-pathway development.

Dis Model Mech. 2015 Dec;8(12):1517-29. doi: 10.1242/dmm.021972. Epub 2015 Oct 8.

Bilateral Multifocal Renal Angiomyolipoma Associated with Wunderlich's Syndrome in A Tuberous Sclerosis Patient.

J Clin Diagn Res. 2015 Aug;9(8):ED01-3. doi: 10.7860/JCDR/2015/13349.6289. Epub 2015 Aug 1.

Potential for therapeutic manipulation of the UPR in disease.

Semin Immunopathol. 2013 May;35(3):351-73. doi: 10.1007/s00281-013-0370-z. Epub 2013 Apr 10.

Infrared imaging and optical coherence tomography reveal early-stage astrocytic hamartomas not detectable by fundoscopy.

Am J Ophthalmol. 2012 May;153(5):883-889.e2. doi: 10.1016/j.ajo.2011.10.033. Epub 2012 Feb 4.

Vascular involvement in tuberous sclerosis.

Pediatr Nephrol. 2010 Aug;25(8):1555-61. doi: 10.1007/s00467-010-1466-5. Epub 2010 Mar 13.

AMPK as a metabolic tumor suppressor: control of metabolism and cell growth.

Future Oncol. 2010 Mar;6(3):457-70. doi: 10.2217/fon.09.174.

Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.

PLoS One. 2010 Feb 16;5(2):e9239. doi: 10.1371/journal.pone.0009239.