Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex-Reference-Cited by-同舟云学术

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Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex

Published:2017-02-22 Issue:5 Volume:91 Page:764-768
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Yang G.¹,Shi Z.N.²,Meng Y.¹,Shi X.Y.¹,Pang L.Y.¹,Ma S.F.¹,Zhang M.N.¹,Wang Y.Y.¹,Zou L.P.¹³

Affiliation:

1. Department of Pediatrics; Chinese PLA General Hospital; Beijing China

2. Bethune Medical Academy; Shijiazhuang China

3. Beijing Institute for Brain Disorders; Beijing China

Funder

Major State Basic Research Development Program (973)

National Natural Science Foundation of China

Beijing Municipal Natural Science Foundation

Natural Science Foundation of Hainan Province

Science and Technology Special Foundation for Social Development in Hainan Province

Sanya Municipal Scientific and Technological Innovation Project in Health Care

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12920/fullpdf

Reference16 articles.

1. Non-penetrance in tuberous sclerosis;Osborne;Lancet,2000

2. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis;Franz;Expert Rev Anticancer Ther,2011

3. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling;Inoki;Nat Cell Biol,2002

4. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis;Jones;Am J Hum Genet,1999

5. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex;Hung;BMC Med Genet,2006

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1. A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC);Anais Brasileiros de Dermatologia;2024-09

2. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group;Nature Reviews Nephrology;2024-03-05

3. Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex;European Journal of Medical Genetics;2022-10

4. Progress of clinical research studies on tuberous sclerosis complex‐related epilepsy in China;Acta Neurologica Scandinavica;2022-08-24

5. The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and meta‐analysis;Developmental Medicine & Child Neurology;2022-06-20

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