Literature DB >> 19887840

Tuberous sclerosis: epidemiology, genetics and progress towards treatment.

Patrick J Morrison1.   

Abstract

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Year:  2009        PMID： 19887840     DOI： 10.1159/000254570

Source DB:  PubMed          Journal:  Neuroepidemiology        ISSN： 0251-5350            Impact factor:   3.282


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  10 in total

1.  Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

Authors:  Rachel Hardy; Charles W Shepherd; Deirdre E Donnelly; Shane A McKee; Patrick J Morrison
Journal:  Oncologist       Date:  2012-06-15

Review 2.  [Hereditary tumor syndromes in neuropathology].

Authors:  C Mawrin
Journal:  Pathologe       Date:  2017-05       Impact factor: 1.011

Review 3.  Advances in the genetics of familial renal cancer.

Authors:  Patrick J Morrison; Deirdre E Donnelly; A Brew Atkinson; Alexander P Maxwell
Journal:  Oncologist       Date:  2010-05-19

4.  A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.

Authors:  Zheng Yu; Xin Zhang; Hong Guo; Yun Bai
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

Review 5.  Familial syndromes associated with intracranial tumours: a review.

Authors:  Adrianna M Ranger; Yatri K Patel; Navjot Chaudhary; Ram V Anantha
Journal:  Childs Nerv Syst       Date:  2013-11-06       Impact factor: 1.475

6.  The prevalence of pica in tuberous sclerosis complex.

Authors:  Patrick J Morrison; Tara O'Neill; Rachel Hardy; Charles W Shepherd; Deirdre E Donnelly
Journal:  Springerplus       Date:  2015-02-01

7.  Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.

Authors:  Ruixiao Zhang; Jianhong Wang; Qing Wang; Yue Han; Xuejun Liu; Irene Bottillo; Yanhua Lang; Leping Shao
Journal:  BMC Med Genet       Date:  2018-09-20       Impact factor: 2.103

8.  Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Authors:  Jie Liu; Weiwei Zhao; Xiaohua Ou; Zhen Zhao; Changming Hu; Mingming Sun; Feifei Liu; Junhao Deng; Weili Gu; Jiaying An; Qingling Zhang; Xiaoxian Zhang; Jiaxing Xie; Shiyue Li; Rongchang Chen; Shihui Yu; Nanshan Zhong
Journal:  PLoS One       Date:  2019-12-19       Impact factor: 3.240

9.  Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures.

Authors:  David N Franz; John A Lawson; Zuhal Yapici; Christian Brandt; Michael H Kohrman; Michael Wong; Mathieu Milh; Adelheid Wiemer-Kruel; Maurizio Voi; Neva Coello; Wing Cheung; Kai Grosch; Jacqueline A French
Journal:  Epilepsia       Date:  2018-05-04       Impact factor: 5.864

10.  A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan.

Authors:  Jui-Hui Peng; Hung-Pin Tu; Chien-Hui Hong
Journal:  Orphanet J Rare Dis       Date:  2021-08-03       Impact factor: 4.123
  10 in total

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