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1. Tuberous sclerosis
by Gomez, Manuel R
1988, 2nd ed., ISBN 0881673978, xviii, 269
Tuberous sclerosis
Book
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2. Full Text Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis
by Ramesh, Vijaya and Han, Sangyeul and Shilyansky, Carrie and Ehninger, Dan and Silva, Alcino J and Kwiatkowski, David J and Zhou, Yu and Li, Weidong
Nature Medicine, ISSN 1078-8956, 08/2008, Volume 14, Issue 8, pp. 843 - 848
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with... 
MEDICINE, RESEARCH & EXPERIMENTAL | COMPLEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRAGILE-X | TSC1 | TRANSLATION | IDENTIFICATION | SYNAPTIC PLASTICITY | RAT MODEL | CELL BIOLOGY | HIPPOCAMPUS | MEMORY | COGNITIVE DEFICITS | Protein Kinases - metabolism | Signal Transduction | Mice, Inbred C57BL | Male | Cognition Disorders - genetics | Sirolimus - pharmacology | Tuberous Sclerosis - genetics | Behavior, Animal | Learning | Hippocampus - metabolism | Tumor Suppressor Proteins - physiology | Animals | Tumor Suppressor Proteins - genetics | Female | Heterozygote | Mice | TOR Serine-Threonine Kinases | Medical research | Neurology | Genetic disorders | Cognition & reasoning | Rodents | Memory | Index Medicus
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3. Tuberous sclerosis
by Gomez, Manuel R
1979, ISBN 0890043132, xviii, 246
Tuberous sclerosis
Book
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4. Full Text Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
by Northrup, Hope, MD and Krueger, Darcy A., MD PhD and Int Tuberous Sclerosis Complex
Pediatric Neurology, ISSN 0887-8994, 2013, Volume 49, Issue 4, pp. 243 - 254
Abstract Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the... 
Pediatrics | Neurology | tuberous sclerosis | diagnostic criteria | clinical features | LYMPHANGIOLEIOMYOMATOSIS | MANAGEMENT | VARIANTS | FUNCTIONAL ASSESSMENT | TSC1 | CARDIAC TUMORS | CLINICAL NEUROLOGY | MICRONODULAR PNEUMOCYTE HYPERPLASIA | ANGIOMYOLIPOMAS | DISEASE | HOGG-DUBE-SYNDROME | PEDIATRICS | Conferences, meetings and seminars | Tuberous sclerosis
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5. Full Text Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
by Krueger, Darcy A., MD PhD and Northrup, Hope, MD and Int Tuberous Sclerosis Complex and International Tuberous Sclerosis Complex Consensus Group
Pediatric Neurology, ISSN 0887-8994, 2013, Volume 49, Issue 4, pp. 255 - 265
Abstract Background Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected... 
Pediatrics | Neurology | treatment | surveillance | tuberous sclerosis | management | guideline | GIANT-CELL ASTROCYTOMAS | SPORADIC LYMPHANGIOLEIOMYOMATOSIS | FACIAL-ANGIOFIBROMAS | CLINICAL NEUROLOGY | TOPICAL RAPAMYCIN | PULSED DYE-LASER | ANGIOMYOLIPOMA | DOUBLE-BLIND | PEDIATRICS | EPILEPSY | DIAGNOSTIC-CRITERIA | VIGABATRIN | Internationality | Practice Guidelines as Topic - standards | Tuberous Sclerosis - epidemiology | Humans | Disease Management | Population Surveillance - methods | Tuberous Sclerosis - therapy | Conferences, meetings and seminars | Tuberous sclerosis | Index Medicus
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6. Full Text Tuberous Sclerosis–associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients
by Guo, Juan and Tretiakova, Maria S and Troxell, Megan L and Osunkoya, Adeboye O and Fadare, Oluwole and Sangoi, Ankur R and Shen, Steven S and Lopez-Beltran, Antonio and Mehra, Rohit and Heider, Amer and Higgins, John P and Harik, Lara R and Leroy, Xavier and Gill, Anthony J and Trpkov, Kiril and Campbell, Steven C and Przybycin, Christopher and Magi-Galluzzi, Cristina and McKenney, Jesse K
The American Journal of Surgical Pathology, ISSN 0147-5185, 11/2014, Volume 38, Issue 11, pp. 1457 - 1467
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with characteristic tumors involving multiple organ systems. Whereas renal angiomyolipoma... 
HMB45 | PAX8 | Renal cell carcinoma | Cd117 | Tuberous sclerosis | Ca9 | Angiomyolipoma | Renal angiomyoadenomatous tumor | Ck7 | YOUNG-ADULTS | SURGERY | COMPLEX | renal angiomyoadenomatous tumor | INTERNATIONAL SOCIETY | PATHOLOGY | tuberous sclerosis | CK7 | SMOOTH-MUSCLE STROMA | CHILDREN | ANGIOMYOADENOMATOUS TUMOR | GRADING SYSTEM | renal cell carcinoma | angiomyolipoma | ENTITY | CD117 | CA9 | EPITHELIOID ANGIOMYOLIPOMA | Immunohistochemistry | Carcinoma, Renal Cell - chemistry | Humans | Middle Aged | Tuberous Sclerosis - surgery | Carcinoma, Renal Cell - surgery | Male | Neoplasms, Multiple Primary | Kidney Neoplasms - chemistry | Tuberous Sclerosis - pathology | Young Adult | Kidney Neoplasms - surgery | Neoplasms, Second Primary | Nephrectomy | Time Factors | Adult | Female | Child | Biomarkers, Tumor - analysis | Carcinoma, Renal Cell - pathology | Neoplasm Recurrence, Local | Immunophenotyping | Treatment Outcome | Tuberous Sclerosis - metabolism | Biopsy | Adolescent | Kidney Neoplasms - pathology | Aged | Index Medicus
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7. Tuberous sclerosis complex
by Gomez, Manuel R and Sampson, Julian R and Whittemore, Vicky Holets
1999, 3rd ed., Developmental perspectives in psychiatry., ISBN 0195122100, xxi, 340
Tuberous sclerosis
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8. Tuberous sclerosis and acute hydrocephalus
by Yilmaz, Nebi and Kiymaz, Nejmi and Yilmaz, Cahide and Çalka, Ömer and Etlik, Ömer and Yazici, Taner
Tuberous sclerosis and acute hydrocephalus, 2004
Tuberous sclerosis complex is a neurocutaneous and autosomal dominant disease characterized by multiple hamartomas in multiple viscera. It results from... 
Medicine | Tuberous sclerosis, Subepandimal giant cell astrocytoma gm04022
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9. Full Text Tuberous sclerosis
by Yates, John R.W
European Journal of Human Genetics, ISSN 1018-4813, 10/2006, Volume 14, Issue 10, pp. 1065 - 1073
Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes... 
Tuberous sclerosis | Mammalian target of rapamycin (mTOR) | Hamartin | Tuberin | Hamartoma | DIAGNOSIS | COMPLEX | LYMPHANGIOLEIOMYOMATOSIS | mammalian target of rapamycin ( mTOR) | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONSENSUS CONFERENCE | TSC2 | tuberous sclerosis | MUTATIONAL ANALYSIS | INFANTILE SPASMS | RENAL ANGIOMYOLIPOMA | GENE | CHROMOSOME 9Q34 | hamartin | GENETICS & HEREDITY | hamartoma | tuberin | Tuberous Sclerosis - complications | Humans | Tumor Suppressor Proteins - genetics | Child, Preschool | Adult | Tuberous Sclerosis - diagnosis | Tuberous Sclerosis - genetics | Tuberous Sclerosis - therapy | Nuclear magnetic resonance--NMR | Medical imaging | Intellectual disabilities | Epilepsy | Genes | Protein biosynthesis | Sclerosis | Children & youth | Autism | Neurology | Signal transduction | Genetics | Skin | Mutation | Index Medicus
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10. Full Text Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report
by Gao, Shan and Wang, Zhiling and Xie, Yongmei
Medicine, ISSN 0025-7974, 07/2018, Volume 97, Issue 29, pp. e11533 - e11533
Rationale: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. The TSC1 and TSC2 genes have been identified as pathogenic genes. Patient... 
MEDICINE, GENERAL & INTERNAL | tuberous sclerosis complex | DISEASE | GROWTH | TSC2 gene | COHORT | frameshift mutation | EXPRESSION | missense mutation | child | Care and treatment | Gene mutations | Tuberous sclerosis | Development and progression | Genetic aspects | Gene expression | Health aspects | Index Medicus | Abridged Index Medicus
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11. Full Text 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
by Franz, David Neal, Prof and Belousova, Elena, MD and Sparagana, Steven, MD and Bebin, E Martina, MD and Frost, Michael, MD and Kuperman, Rachel, MD and Witt, Olaf, MD and Kohrman, Michael H, MD and Flamini, J Robert, MD and Wu, Joyce Y, MD and Curatolo, Paolo, Prof and de Vries, Petrus J, Prof and Whittemore, Vicky H, PhD and Thiele, Elizabeth A, MD and Ford, James P, MS and Shah, Gaurav, MD and Cauwel, Helene, MSc and Lebwohl, David, MD and Sahmoud, Tarek, MD and Jozwiak, Sergiusz, MD
Lancet, The, ISSN 0140-6736, 2013, Volume 381, Issue 9861, pp. 125 - 132
Summary Background Tuberous sclerosis complex is a genetic disorder leading to constitutive activation of mammalian target of rapamycin (mTOR) and growth of... 
Internal Medicine | RAPAMYCIN | REGRESSION | MEDICINE, GENERAL & INTERNAL | CLINICAL-TRIAL | ANGIOMYOLIPOMA | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | CONSENSUS CONFERENCE | LYMPHOMA | MUTATIONAL ANALYSIS | TUMORS | SIROLIMUS | Sirolimus - analogs & derivatives | Sirolimus - therapeutic use | Double-Blind Method | Tuberous Sclerosis - complications | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Fever - chemically induced | Oral Ulcer - chemically induced | Seizures - chemically induced | Astrocytoma - complications | Young Adult | Stomatitis - chemically induced | Adolescent | Astrocytoma - drug therapy | Adult | Female | Child | Everolimus | Sirolimus - adverse effects | Tuberous sclerosis | Complications and side effects | Research | Drug therapy | Astrocytoma | Risk factors | Kinases | Medical treatment | Epilepsy | Colorectal cancer | Index Medicus | Abridged Index Medicus
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12. Full Text Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study
by French, Jacqueline A, Dr Prof and Lawson, John A, MD and Yapici, Zuhal, Prof and Ikeda, Hiroko, MD and Polster, Tilman, MD and Nabbout, Rima, PhD and Curatolo, Paolo, Prof and de Vries, Petrus J, Prof and Dlugos, Dennis J, MD and Berkowitz, Noah, PhD and Voi, Maurizio, MD and Peyrard, Severine, MS and Pelov, Diana, MS and Franz, David N, Prof
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10056, pp. 2153 - 2163
Summary Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used for various benign tumours associated with tuberous sclerosis... 
Internal Medicine | MAMMALIAN TARGET | TRIAL | MEDICINE, GENERAL & INTERNAL | RAPAMYCIN MTOR | COMPLEX | LYMPHANGIOLEIOMYOMATOSIS | EFFICACY | GIANT-CELL ASTROCYTOMAS | SAFETY | ANGIOMYOLIPOMA | INTRACTABLE EPILEPSY | Double-Blind Method | Tuberous Sclerosis - complications | Humans | Middle Aged | Seizures - drug therapy | Anticonvulsants - therapeutic use | Child, Preschool | Male | Antineoplastic Agents - therapeutic use | Combined Modality Therapy | Dose-Response Relationship, Drug | Adolescent | Everolimus - adverse effects | Adult | Everolimus - therapeutic use | Female | Aged | Child | Tuberous sclerosis | Nervous system diseases | Care and treatment | Seizures (Medicine) | Angiogenesis inhibitors | Epilepsy | Prescription drugs | Convulsions & seizures | Genetic disorders | Clinical trials | Mutation | Drug therapy | Index Medicus | Abridged Index Medicus
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13. Tuberous sclerosis complex
: genes, clinical features, and therapeutics
by Kwiatkowski, David J and Whittemore, Vicky Holets and Thiele, Elizabeth A. 1961- (Elizabeth Anne)
2010, ISBN 3527322019
physiopathology | therapy | Tuberous sclerosis
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14. Tuberous Sclerosis Complex in Autism
by Guo, Xin and Tu, Wen-Jun and Shi, Xiao-Dong
03/2013
Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder. Methods: We studied one cohort of children followed up since 2005... 
Neurocutaneous Syndromes | Autism | Tuberous Sclerosis Complex | Autistic Disorder
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15. Full Text Treatment of facial angiofibromas with topical application of oral rapamycin solution (1 mg mL−1) in two patients with tuberous sclerosis
by Mutizwa, M.M and Berk, D.R and Anadkat, M.J
British Journal of Dermatology, ISSN 0007-0963, 10/2011, Volume 165, Issue 4, pp. 922 - 923
COMPLEX | DERMATOLOGY | Facial Neoplasms - drug therapy | Off-Label Use | Tuberous Sclerosis - complications | Humans | Administration, Cutaneous | Antibiotics, Antineoplastic - administration & dosage | Angiofibroma - complications | Sirolimus - administration & dosage | Adolescent | Adult | Female | Facial Neoplasms - complications | Angiofibroma - drug therapy | Tuberous sclerosis | Care and treatment
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16. Full Text Efficacy and Safety of Topical Sirolimus Therapy for Facial Angiofibromas in the Tuberous Sclerosis Complex : A Randomized Clinical Trial
by Wataya-Kaneda, Mari and Nakamura, Ayumi and Tanaka, Mari and Hayashi, Misa and Matsumoto, Shoji and Yamamoto, Koji and Katayama, Ichiro
JAMA Dermatology, ISSN 2168-6068, 01/2017, Volume 153, Issue 1, pp. 39 - 48
IMPORTANCE: Inhibitors of mammalian target of rapamycin complex 1, such as sirolimus, effectively target skin lesions in tuberous sclerosis complex (TSC).... 
RAPAMYCIN | LYMPHANGIOLEIOMYOMATOSIS | DOSE LEVELS | EVEROLIMUS | GIANT-CELL ASTROCYTOMAS | HYPOMELANOTIC MACULES | CONSENSUS CONFERENCE | PEDIATRIC-PATIENTS | DIAGNOSTIC-CRITERIA | MTOR | DERMATOLOGY | Skin Neoplasms - drug therapy | Tuberous Sclerosis - complications | Humans | Middle Aged | Antibiotics, Antineoplastic - adverse effects | Male | Patient Satisfaction | Young Adult | Angiofibroma - complications | Adult | Female | Child | Sirolimus - adverse effects | Facial Neoplasms - drug therapy | Double-Blind Method | Gels | Treatment Outcome | Sirolimus - blood | Antibiotics, Antineoplastic - administration & dosage | Skin Neoplasms - complications | Sirolimus - administration & dosage | Adolescent | Facial Neoplasms - complications | Administration, Topical | Angiofibroma - drug therapy | Treatment outcome | Care and treatment | Prosopagnosia | Analysis | Index Medicus | Abridged Index Medicus
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