Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex

[1]  Li Li,et al.  Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex , 2016, Chinese medical journal.

[2]  M. Sahin,et al.  Tuberous sclerosis complex. , 2015, Pediatric clinics of North America.

[3]  A. V. D. van den Ouweland,et al.  Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations , 2015, BMC Medical Genetics.

[4]  O. Witt,et al.  Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. , 2014, The Lancet. Oncology.

[5]  T. Temudo,et al.  Esclerosis tuberosa: caracterización clínica e intento de correlación fenotipo/genotipo , 2014 .

[6]  H. Kim,et al.  Managing tuberous sclerosis in the Asia-Pacific region: Refining practice and the role of targeted therapy , 2014, Journal of Clinical Neuroscience.

[7]  W. Kiess,et al.  Wide spectrum of clinical manifestations in children with tuberous sclerosis complex – Follow-up of 20 children , 2014, Brain and Development.

[8]  D. Krueger,et al.  Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference , 2013, Pediatric neurology.

[9]  P. Barsi,et al.  [Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis]. , 2013, Orvosi hetilap.

[10]  S. Tsang,et al.  Infrared imaging and optical coherence tomography reveal early-stage astrocytic hamartomas not detectable by fundoscopy. , 2012, American journal of ophthalmology.

[11]  S. Hong,et al.  Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex. , 2012, Pediatric neurology.

[12]  C. Gomes,et al.  Tuberous sclerosis complex. , 2012, Anais brasileiros de dermatologia.

[13]  K. Kotulska,et al.  Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. , 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[14]  E. Thiele,et al.  Tuberous Sclerosis Complex: Diagnostic Challenges, Presenting Symptoms, and Commonly Missed Signs , 2011, Pediatrics.

[15]  P. Crino,et al.  The tuberous sclerosis complex. , 2006, The New England journal of medicine.

[16]  R. Schwartz,et al.  Tuberous sclerosis complex: advances in diagnosis, genetics, and management. , 2007, Journal of the American Academy of Dermatology.

[17]  C. Bulteau,et al.  SUBEPENDYMAL GIANT‐CELL ASTROCYTOMASIN PEDIATRIC TUBEROUS SCLEROSIS DISEASE: WHEN SHOULD WE OPERATE? , 2007, Neurosurgery.

[18]  Chih-ping Chen,et al.  Molecular and clinical analyses of 84 patients with tuberous sclerosis complex , 2006, BMC Medical Genetics.

[19]  C. Shields,et al.  Optical coherence tomography of retinal astrocytic hamartoma in 15 cases. , 2006, Ophthalmology.

[20]  L. Escovich,et al.  Tuberous sclerosis: presentation of a clinical case with oral manifestations. , 2003, Medicina oral : organo oficial de la Sociedad Espanola de Medicina Oral y de la Academia Iberoamericana de Patologia y Medicina Bucal.

[21]  E. Nanba,et al.  Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex , 2002, Brain and Development.

[22]  D. Kwiatkowski,et al.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. , 2001, American journal of human genetics.

[23]  D. Kwiatkowski,et al.  Molecular genetic advances in tuberous sclerosis , 2000, Human Genetics.

[24]  H. Northrup,et al.  Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation , 1999, Journal of child neurology.

[25]  J. Maynard,et al.  Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. , 1999, American journal of human genetics.

[26]  T. Katsumoto,et al.  Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis , 1999, Brain and Development.

[27]  T. Agata EPIDEMIOLOGY OF TUBEROUS SCLEROSIS IN JAPAN , 1999 .

[28]  M. Delgado,et al.  Renal lesion growth in children with tuberous sclerosis complex. , 1998, The Journal of urology.

[29]  S Povey,et al.  Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. , 1997, Science.

[30]  M. Short,et al.  Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. , 1996, Human molecular genetics.

[31]  I. Zimmer-Galler,et al.  Long-term observation of retinal lesions in tuberous sclerosis. , 1995, American journal of ophthalmology.

[32]  D. Kwiatkowski,et al.  Tuberous sclerosis. , 1994, Archives of dermatology.

[33]  S. Thomas,et al.  Identification and characterization of the tuberous sclerosis gene on chromosome 16 , 1993, Cell.