Relevant bibliographies by topics / Tuberous sclerosis

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Tuberous sclerosis'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 January 2023

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Journal articles on the topic "Tuberous sclerosis"

1

Wong, Virginia. "Study of the Relationship Between Tuberous Sclerosis Complex and Autistic Disorder." Journal of Child Neurology 21, no. 3 (March 2006): 199–204. http://dx.doi.org/10.2310/7010.2006.00046.

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There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknown. We studied two cohorts of children followed up since 1986 until 2003, one cohort with tuberous sclerosis complex and another cohort with autistic disorder, to determine the incidence of autistic disorder in tuberous sclerosis complex and the incidence of tuberous sclerosis complex in autistic disorder respectively. We established a Tuberous Sclerosis Complex Registry in 1985 at the University of Hong Kong. In 2004, 44 index cases (the male to female ratio was 0.75:1) were registered. Three had a positive family history of tuberous sclerosis complex. Thus, the total number of tuberous sclerosis complex cases was 47. We adopted the diagnostic criteria of tuberous sclerosis complex for case ascertainment. The period prevalence rate of tuberous sclerosis complex for children and adolescents aged < 20 years is 3.5 per 10,000 (on Hong Kong island, excluding the eastern region with 125,100 aged < 20 years in 2003). Of 44 cases with tuberous sclerosis complex, 7 had autistic disorder. Thus, the incidence of autistic disorder in tuberous sclerosis complex is 16%. During the 17-year period (1986—2003), we collected a database of 753 children (668 boys and 84 girls; male to female ratio 8:1) with autistic disorder and pervasive developmental disorders. For all children with autistic disorder or pervasive developmental disorders, we routinely examined for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots, which appear in 50% of children with tuberous sclerosis complex by the age of 2 years. For those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, seven had tuberous sclerosis complex. Thus, the incidence of tuberous sclerosis complex in autistic disorder is 0.9%. All of these children are mentally retarded, with moderate to severe grades in an intellectual assessment conducted by a clinical psychologist. Future studies should be directed toward looking at the various behavioral phenotypes in tuberous sclerosis complex and defining these with standardized criteria to look for any real association with the underlying genetic mutation of TSC1 or TSC2 gene or even the site of tubers in the brain. ( J Child Neurol 2006;21:199—204; DOI 10.2310/7010.2006.00046).
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Panwar, Praveen Kumar. "Tuberous Sclerosis." Delhi Journal of Ophthalmology 24, no. 3 (March 1, 2014): 192–94. http://dx.doi.org/10.7869/djo.41.

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Rahmoune, Hakim, Nada Boutrid, and Belkacem Bioud. "Tuberous sclerosis." Cumhuriyet Medical Journal 35, no. 1 (March 22, 2013): 133–34. http://dx.doi.org/10.7197/1305-0028.1924.

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Monahov, K. N., O. L. Romanova, P. O. Amelina, K. Yu Molodyh, Yu S. Astahov, P. A. Nechiporenko, and L. K. Atlasova. "Tuberous Sclerosis." Vestnik dermatologii i venerologii, no. 5 (January 1, 2017): 82–88. http://dx.doi.org/10.25208/0042-4609-2017-93-5-82-88.

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George, Anisha, Bimal Kanish, and Anuradha Bhatia. "Tuberous sclerosis." Indian Dermatology Online Journal 6, no. 2 (2015): 142. http://dx.doi.org/10.4103/2229-5178.153026.

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Brochwicz-Lewinski, M., and D. Patel. "Tuberous Sclerosis." Journal of the Royal College of Physicians of Edinburgh 30, no. 3 (September 2000): 204–6. http://dx.doi.org/10.1177/147827150003000304.

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Millichap, J. Gordon. "Tuberous Sclerosis." Pediatric Neurology Briefs 2, no. 1 (January 1, 1988): 3. http://dx.doi.org/10.15844/pedneurbriefs-2-1-3.

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Millichap, J. Gordon. "Tuberous Sclerosis." Pediatric Neurology Briefs 2, no. 8 (August 1, 1988): 57. http://dx.doi.org/10.15844/pedneurbriefs-2-8-1.

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Mollah, MAH, and Shegufta Rahman. "Tuberous Sclerosis." Journal of Bangladesh College of Physicians and Surgeons 31, no. 4 (November 29, 2014): 230–31. http://dx.doi.org/10.3329/jbcps.v31i4.21011.

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James, Neil. "Tuberous sclerosis." Learning Disability Practice 22, no. 3 (May 30, 2019): 14. http://dx.doi.org/10.7748/ldp.22.3.14.s16.

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Dissertations / Theses on the topic "Tuberous sclerosis"

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Lastivka, I. V. "Clinical case of tuberous sclerosis." Thesis, БДМУ, 2022. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/19769.

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O'Callaghan, Finbar J. K. "Tuberous sclerosis : a population based study." Thesis, University of Bath, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392018.

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McCartney, Deborah Lynn. "Spatial cognition in tuberous sclerosis complex." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611280.

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Shepherd, Charles William. "A clinical evaluation of tuberous sclerosis complex." Thesis, Queen's University Belfast, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282044.

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Ridler, Khanum. "Neuroimaging and neuropsychology in tuberous sclerosis complex." Thesis, University of Cambridge, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.616471.

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De, Vries Petrus Johannes. "The psychopathologies of attention in tuberous sclerosis." Thesis, University of Cambridge, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.620296.

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Mahmood, Ali Abdullah. "MOLECULAR GENETIC ANALYSIS OF THE TUBEROUS SCLEROSIS COMPLEX." Thesis, Indian Institute of Science, 2004. http://hdl.handle.net/2005/73.

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects several organs in the human body including the brain, heart, kidneys, eyes, skin, spleen, liver and lungs [Roach, et al., 1999]. TSC is characterized by hamartomas that rarely progress to malignancy in the affected organs. Clinical symptoms of TSC include cortical tubers and subependymal nodules in the brain, seizures, mental retardation, ungual and periungual fibromas, angiofibromas of the face, and angiomyolipomas in the kidneys [Roach, et al., 1999]. TSC displays genetic heterogeneity with two known loci: TSC1 on chromosome 9q34 [Fryer, et al., 1987a] and TSC2 on chromosome 16p13.3 [Kandt, et al., 1992]. The genes for both loci have been isolated and characterized [ The European Chromosome 16 Tuberous Sclerosis Consortium, 1993; van Slegtenhorst, et al., 1997]. The TSC1 gene contains 21 coding and two non-coding exons and encodes for an 8.6 kb mRNA. It spans 45 kb of genomic DNA and codes for hamartin, a 1,164 amino acid protein of 130 kDa. The TSC2 encodes for a 200 kDa protein, tuberin, and spans 43 kb of genomic DNA. The TSC2 gene consists of 41 coding exons and one non-coding exon and encodes for a 5.4 kb mRNA. Both genes are known to function as tumor suppressors [Carbonara, et al., 1994; Green, et al., 1994a; Green, et al., 1994b]. Several groups have performed mutation analysis of both the genes in patients mainly from the western and Japanese populations. A total of 133 mutations in the TSC1 gene and 350 mutations in the TSC2 gene have been reported so far (Human Gene Mutation Database; http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html). However, there is no report on the mutation analysis of the TSC genes from the Indian population. In this study, a total of 24 TSC cases were ascertained from the Indian population and a comprehensive mutation analysis of both the TSC genes was carried out in them to understand the function of both the genes, to locate important domains and also to find the mutational hotspots for molecular diagnosis of TSC. A total of 12 mutations, including seven novel mutations were identified. It was also shown that the most recurrent mutations (c.1831C>T and c.1832G>A) are, in part, due to methylation of the CpG dinucleotide. There are still 15-25% TSC cases in western populations with undetected mutations [Cheadle, et al., 2000a]. Further, there are familial TSC cases linked either to the TSC1 on 9q34 or TSC2 on 16p13.3 which fail to show any mutations in the coding sequences of both genes [Cheadle, et al., 2000a]. The failure to detect mutations in these cases could be due to several reasons. First, it could be that the mutations lie in the regulatory regions (promoters and enhancers) of both the genes, presently unidentified for the TSC1 gene [Cheadle, et al., 2000a]. Second, it is possible that the mutations lie outside of the coding sequences, within intronic sequences, or in the 5’ or 3’ UTRs [Cheadle, et al., 2000a]. Third, it may be due to the limitation of the techniques used to identify mutations [Cheadle, et al., 2000a]. In order to look for mutations in the promoter, the TSC1 gene promoter was characterized using luciferase reporter gene transfection assay. The promoter for the TSC2 gene is known [Kobayashi, et al., 1997]. The promoters of both TSC1 and TSC2 genes were sequenced in all the 24 cases to look for mutations. During the characterization of the TSC1 gene promoter, a novel isoform involving the non-coding exon 1 of the TSC1 gene was discovered serendipitously.
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Verhoef, Senno. "Clinical and molecular genetics of tuberous sclerosis complex." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2001. http://hdl.handle.net/1765/12098.

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Henderson, Keiran Joseph. "Glycosaminoglycans of skin fibroblasts from tuberous sclerosis patients." Thesis, University of Nottingham, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305187.

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Slegtenhorst, Marjon Annette van. "Tuberous sclerosis complex 1 gene identification and characterisation /." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1998. http://hdl.handle.net/1765/13665.

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Books on the topic "Tuberous sclerosis"

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Living with tuberous sclerosis: Stories of love and hope. Landover, Md: National Tuberous Sclerosis Association, 1999.

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Paolo, Curatolo, and International Child Neurology Association, eds. Tuberous sclerosis complex: From basic science to clinical phenotypes. London: Mac Keith Press for the International Child Neurology Association, 2003.

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Mommy ... move the sun: Beyond dire prognosis, joy shines through! : a memoir. Pacific Grove, Calif: Angel Girl Publishing, 2014.

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Commerce, United States Congress House Committee on Energy and. Expressing the sense of the Congress regarding tuberous sclerosis: Report (to accompany H. Con. Res. 25) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2001.

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United States. Congress. House. Committee on Energy and Commerce. Expressing the sense of the Congress regarding tuberous sclerosis: Report (to accompany H. Con. Res. 25) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2001.

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Expressing the sense of the Congress regarding tuberous sclerosis: Report (to accompany H. Con. Res. 25) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2001.

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Osborne, John P. Tuberous sclerosis: ...more than just skin deep. 2nd ed. Bromsgrove: Tuberous Sclerosis Association of Great Britain, 1994.

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Kwiatkowski, David J., Vicky Holets Whittemore, and Elizabeth A. Thiele. Tuberous sclerosis complex: Genes, clinical features and therapeutics. Weinheim: Wiley-VCH, 2010.

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Yasumasa, Ishibashi, Hori Yoshiaki, and Japan Intractable Diseases Research Foundation., eds. Tuberous sclerosis and neurofibromatosis: Epidemiology, pathophysiology, biology, and management : proceedings of the International Symposium on Neurocutaneous Syndrome, 17-19 October 1989, Tokyo, Japan. Amsterdam: Excerpta Medica, 1990.

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Parker, James N., and Philip M. Parker. Tuberous sclerosis: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Book chapters on the topic "Tuberous sclerosis"

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Stern, John M., and Noriko Salamon. "Tubers of Tuberous Sclerosis." In Imaging of Epilepsy, 265–68. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-86672-3_60.

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Gilbert, Patricia. "Tuberous sclerosis." In The A-Z Reference Book of Syndromes and Inherited Disorders, 312–15. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_83.

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Hunt, A. "Tuberous sclerosis." In Profound Retardation and Multiple Impairment, 68–81. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4899-7146-3_5.

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Tsang, Stephen H., and Tarun Sharma. "Tuberous Sclerosis." In Advances in Experimental Medicine and Biology, 205–7. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95046-4_43.

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De Laey, J. J., and M. Hanssens. "Tuberous sclerosis." In Vascular Tumors and Malformations of the Ocular Fundus, 123–45. Dordrecht: Springer Netherlands, 1990. http://dx.doi.org/10.1007/978-94-009-0589-4_7.

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Armstrong, Carol L. "Tuberous Sclerosis." In Encyclopedia of Clinical Neuropsychology, 2561–62. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-0-387-79948-3_162.

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Orellana, Juan, and Alan H. Friedman. "Tuberous Sclerosis." In Clinico-Pathological Atlas of Congenital Fundus Disorders, 203–5. New York, NY: Springer New York, 1993. http://dx.doi.org/10.1007/978-1-4613-9320-7_47.

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Speer, Tod W., Rene Rubin, Iris Rusu, Iris Rusu, Yan Yu, Laura Doyle, Cheng B. Saw, et al. "Tuberous Sclerosis." In Encyclopedia of Radiation Oncology, 921. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-540-85516-3_167.

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Armstrong, Carol L. "Tuberous Sclerosis." In Encyclopedia of Clinical Neuropsychology, 1. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56782-2_162-2.

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Osborne, John P., and Andrew J. Green. "Tuberous Sclerosis." In Harper's Textbook of Pediatric Dermatology, 129.1–129.13. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444345384.ch129.

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Conference papers on the topic "Tuberous sclerosis"

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Quiñonez, M. A., M. E. Vijil, and T. W. Yanes. "Tuberous Sclerosis: A Case Report." In American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a4248.

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Yıldırım, Sultan Ceren, Gülen Gül Mert, Aysun Karabay Bayazıt, and Şakir Altunbaşak. "GP289 Kidney involvement in tuberous sclerosis complex." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.348.

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Mak, Garbo, and Marcia Katz. "Multifocal Multinodular Pneumocyte Hyperplasia In Tuberous Sclerosis." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a3844.

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Bajaj, Kanika. "Poster Abstract." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685361.

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Tuberous sclerosis (TS) is a genetic disorder that is inherited in an autosomal dominant fashion with variable clinical manifestations including seizures, mental retardation, renal failure and pneumothorax. The literature on TS in pregnancy is largely based upon case reports which have shown a 43% complication rate including oligohydramnios, polyhydramnios, IUGR, hemorrhage from ruptured renal tumors, PPROM, renal failure, placental abruption and perinatal demise. We reporting a case of 33 yr old female with gravida 3 para 2 and live 2 with period of gestation 9 months with tuberous sclerosis, with severe oligohydramnios with fetal cardiomegaly and mild pericardial effusion and pleural effusion. She had facial angiofibromas along with bilateral renal angiomyolipomas. The previous fetal outcomes were normal, with facial angiofibroma. We report such a unique case having all clinically diagnostic physical sings of tuberous sclerosis with good fetal outcomes.
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Debella, Y. T., V. Arunthari, H. Baig, B. Yarlagadda, and C. Vadlamudi. "A Rare Case of Tuberous Sclerosis Associated Lymphangioleimyomatosis." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6317.

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Moura, Ludmila Sandy Alves, André Taumaturgo Cavalcanti Arruda, and Mário Luciano de Melo Silva Júnior. "Case Report of Tuberous Sclerosis with early West Syndrome." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.542.

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Context: We present a patient diagnosed with Tuberous Sclerosis (TS) who developed West Syndrome (WS) early on. Early diagnosis of TS is important for genetic counseling and WS requires early intervention to avoid neurodevelopmental deficits. Case report: Y.S.L.C., female, 45 days old, presented cardiac rhabdomyoma and 9 hypomelanotic lesions, being diagnosed with TS. At 2 months old, she presented epileptic seizures of flexion spasms, which progressed in 1 week to neuropsychomotor development (NP) regression and hypsarrhythmia. She was diagnosed with WS and treated with vigabatrin. There was suppression of hypsarrhythmic pattern at 8 months old. Currently 8 years old, she has hypochromic stains, hemangiomyolipomas in the right kidney, bilateral renal cysts, sebaceous adenomas, facial angiofibromas, cortical tubers, subependymal nodules, Intellectual Disability and Focal Epilepsy. Conclusions: ET is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes leading neurodevelopmental changes and cellular hyperplasias. TE diagnosis is clinical, based on major (such as facial angiofibromas, nail fibroma and hypopigmented macules) and minor criteria and molecular tests in doubtful cases. TE is associated with epilepsy in 80-90% of cases (30 to 50% of infantile spasms). WS is an encephalopathy of infantile spasms, NP arrest/regression and hypsarrhythmia. Early diagnosis and use of anti-epileptic drugs are necessary to avoid cognitive impairment.
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Smajlović, Elma, Orhana Grahić-Mujčinović, Sibila Tabaković, and Majda Smajlagić. "176 Echocardiographic findings in tuberous sclerosis complex-single institution experience." In 10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.176.

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TEIXEIRA, S. C., L. R. SOUZA, F. L. F. MOREIRA, G. C. FILHO, and E. M. L. RIBEIRO. "NDD.05. Tuberous sclerosis: clinical case report and literature review." In I International Symposium in Neuroscience Meeting. Editora Edgard Blücher, 2014. http://dx.doi.org/10.5151/isnm-sine29.

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Kaplan, I., C. Kyung, C. N. Railwah, S. A. Fahmy, and S. Zulqarnain. "Tuberous Sclerosis with Lymphangioleiomyomatosis (LAM) Treated with Sirolimus: A Case Report." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6324.

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Di Marco, Fabiano, Silvia Terraneo, Olívia Olívia Meira Dias, Gianluca Imeri, Stefano Centanni, Lisa Giuliani, Elena Lesma, et al. "Natural history of incidental sporadic or tuberous sclerosis complex associated lymphangioleiomyomatosis." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.oa2143.

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Reports on the topic "Tuberous sclerosis"

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Sparagana, Steven P. Tuberous Sclerosis Complex National Database. Fort Belvoir, VA: Defense Technical Information Center, October 2005. http://dx.doi.org/10.21236/ada449894.

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Bordey, Angelique. Understanding the Etiology of Tuberous Sclerosis Complex. Fort Belvoir, VA: Defense Technical Information Center, July 2012. http://dx.doi.org/10.21236/ada566455.

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Shipley, James M. Modeling Phenotypes of Tuberous Sclerosis in the Mouse. Fort Belvoir, VA: Defense Technical Information Center, February 2006. http://dx.doi.org/10.21236/ada484673.

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Zervas, Mark. Determining Changes in Neural Circuits in Tuberous Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, May 2013. http://dx.doi.org/10.21236/ada613792.

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Zervas, Mark. Determining Changes in Neural Circuits in Tuberous Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, May 2012. http://dx.doi.org/10.21236/ada590824.

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Yoshii, Akira, and Martha Constantine-Patton. Studying Protein Synthesis-Dependent Synaptic Changes in Tuberous Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, April 2013. http://dx.doi.org/10.21236/ada582389.

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Crino, Peter B. Mutational Analysis of Cell Types in Tuberous Sclerosis Complex (TSC). Fort Belvoir, VA: Defense Technical Information Center, January 2009. http://dx.doi.org/10.21236/ada575459.

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Qian, Shu-Bing. Genome-Wide Analysis of Translational Control in Tuberous Sclerosis Complex. Fort Belvoir, VA: Defense Technical Information Center, July 2012. http://dx.doi.org/10.21236/ada576362.

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Qian, Shu-Bing. Genome-Wide Analysis of Translational Control in Tuberous Sclerosis Complex. Fort Belvoir, VA: Defense Technical Information Center, July 2013. http://dx.doi.org/10.21236/ada584195.

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Sahin, Mustafa. Role of CTGF in White Matter Development in Tuberous Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, February 2014. http://dx.doi.org/10.21236/ada605019.

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