{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T22:23:04Z","timestamp":1788906184849,"version":"build-2803163510"},"reference-count":37,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1995,6,1]]},"DOI":"10.1136\/adc.72.6.471","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T23:07:28Z","timestamp":1229987248000},"page":"471-474","source":"Crossref","is-referenced-by-count":39,"title":["Tuberous sclerosis."],"prefix":"10.1136","volume":"72","author":[{"given":"D W","family":"Webb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Osborne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/jmg.26.1.28","article-title":"Genetic aspects of tuberous sclerosis in the west of Scotland","volume":"26","author":"Sampson, JR, Stephenson; JBF, Mann; L, Connor; J.M.","year":"1989","unstructured":"Sampson JR, Stephenson JBF, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. JMed Genet 1989; 26: 28-31.","journal-title":"JMed Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","article-title":"Epidemiology of tuberous sclerosis","volume":"615","author":"Osborne, J.P.; Fryer, A.E.; Webb, D.W.","year":"1991","unstructured":"Osborne JP, Fryer AE, Webb DW. Epidemiology of tuberous sclerosis. Ann NYAcad Sci 1991; 615: 125-7.","journal-title":"Ann NYAcad Sci"},{"key":"ref_3","first-page":"385","article-title":"On the incidence of fits and mental retardation in tuberous sclerosis","volume":"28","author":"Webb, D.W.; Osborne, J.P.; Fryer, A.E.","year":"1991","unstructured":"Webb DW, Osborne JP, Fryer AE. On the incidence of fits and mental retardation in tuberous sclerosis. J Med Genet 1991; 28: 385-8.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1212\/WNL.35.4.600","article-title":"Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950-1982","volume":"35","year":"1985","unstructured":"Wiederholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950-1982. Neurology 1985; 35: 600-3.","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1001\/archneur.1994.00540130110018","article-title":"Tuberous sclerosis in western Sweden. A population study of cases with early childhood onset","volume":"51","author":"Ahisen, G.; Gillberg, I.C.; Lindblom, R.; Gillberg, C.","year":"1994","unstructured":"Ahisen G, Gillberg IC, Lindblom R, Gillberg C. Tuberous sclerosis in western Sweden. A population study of cases with early childhood onset. Arch Neurol 1994; 51: 76-81.","journal-title":"Arch Neurol"},{"key":"ref_6","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(75)90343-8","article-title":"Infantile spasms and subsequent development of tuberous sclerosis syndrome","author":"Pampiglione, P.; Pugh, F.","year":"1975","unstructured":"Pampiglione P, Pugh F. Infantile spasms and subsequent development of tuberous sclerosis syndrome. Lancet 1975; ii: 1046.","journal-title":"Lancet"},{"key":"ref_7","article-title":"Tuberous sclerosis","author":"Gomez, M.R.","year":"1988","unstructured":"Gomez MR. Tuberous sclerosis. 2nd Ed. New York: Raven Press, 1988.","edition":"2nd Ed"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1136\/adc.68.3.367","article-title":"Cardiac rhabdomyomas and their association with tuberous sclerosis","volume":"68","author":"Webb, D.W.; Thomas, R.D.; Osborne, J.P.","year":"1993","unstructured":"Webb DW, Thomas RD, Osborne JP. Cardiac rhabdomyomas and their association with tuberous sclerosis. Arch Dis Child 1993; 68: 367-70.","journal-title":"Arch Dis Child"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1136\/bmj.306.6887.1258","article-title":"Tuberous sclerosis and polycystic kidney disease","volume":"306","author":"Webb, D.W.; Super, M.; Normand, I.C.S.; Osborne, J.P.","year":"1993","unstructured":"Webb DW, Super M, Normand ICS, Osborne JP. Tuberous sclerosis and polycystic kidney disease. BMJ 1993;306: 1258-9.","journal-title":"BMJ"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1097\/00006982-199313020-00013","article-title":"Giant cell astrocytoma of the retina in tuberous sclerosis","volume":"13","author":"Margo, C.E.; Barletta, J.P.; Staman, J.A.","year":"1993","unstructured":"Margo CE, Barletta JP, Staman JA. Giant cell astrocytoma of the retina in tuberous sclerosis. Retina 1993; 13: 155-9.","journal-title":"Retina"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1111\/j.1464-410X.1994.tb16577.x","article-title":"A population study of renal disease in tuberous sclerosis","volume":"74","author":"Webb, D.W.; Kabala, J.; Osborne, J.P.","year":"1994","unstructured":"Webb DW, Kabala J, Osborne JP. A population study of renal disease in tuberous sclerosis. BrJ Urol 1994; 74: 151-4.","journal-title":"BrJ Urol"},{"key":"ref_12","first-page":"485","article-title":"Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients","volume":"22","author":"Menor, F.; Marti-Bonmati, L.; Mulas, F.; Poyatos, C.; Cortina, H.","year":"1992","unstructured":"Menor F, Marti-Bonmati L, Mulas F, Poyatos C, Cortina H. Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients. PediatrRadiol 1992; 22: 485-9.","journal-title":"PediatrRadiol"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1148\/radiology.167.2.3357966","article-title":"Tuberous sclerosis: characteristics at CT and MRI imaging","volume":"167","author":"Altman, N.R.; Purser, R.K.; Donovan Post, M.J.","year":"1988","unstructured":"Altman NR, Purser RK, Donovan Post MJ. Tuberous sclerosis: characteristics at CT and MRI imaging. Radiology 1988; 167: 527-32.","journal-title":"Radiology"},{"key":"ref_14","first-page":"106","article-title":"Cardiac rhabdomyomas in tuberous sclerosis: their course and diagnostic value","volume":"64","author":"Smith, H.; Watson, G.H.; Patel, R.G.; Super, M.","year":"1989","unstructured":"Smith H, Watson GH, Patel RG, Super M. Cardiac rhabdomyomas in tuberous sclerosis: their course and diagnostic value. Arch Dis Child 1989; 64: 106-200.","journal-title":"Arch Dis Child"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1136\/adc.67.11.1363","article-title":"Incidence of hepatic hamartomas in tuberous sclerosis","volume":"67","author":"Jozwiak, S.; Pedich, M.; Rajszys, P.; Michalowicz, R.","year":"1992","unstructured":"Jozwiak S, Pedich M, Rajszys P, Michalowicz R. Incidence of hepatic hamartomas in tuberous sclerosis. Arch Dis Child 1992; 67: 1363-5.","journal-title":"Arch Dis Child"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/0140-6736(90)90660-W","article-title":"Vigabatrin in infantile spasms","volume":"335","author":"true","year":"1990","unstructured":"Chiron C, Dulac 0, Luna D, et al. Vigabatrin in infantile spasms. Lancet 1990; 335: 363-4.","journal-title":"Lancet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1016\/0140-6736(93)91255-K","article-title":"Vigabatrin in infantile spasms, why add on?","volume":"341","author":"Appleton, R.E.; Montiel-Viesca, F.","year":"1993","unstructured":"Appleton RE, Montiel-Viesca F. Vigabatrin in infantile spasms, why add on? Lancet 1993; 341: 962.","journal-title":"Lancet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1111\/j.1528-1157.1993.tb00442.x","article-title":"Surgical treatment for epilepsy in cerebral tuberous sclerosis","volume":"34","author":"Bebin, E.M.; Kelly, P.J.; Gomez, M.R.","year":"1993","unstructured":"Bebin EM, Kelly PJ, Gomez MR. Surgical treatment for epilepsy in cerebral tuberous sclerosis. Epilepsia 1993; 34: 651-7.","journal-title":"Epilepsia"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/j.1469-8749.1994.tb11819.x","article-title":"Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire based study","volume":"36","author":"Hunt, A.; Stores, G.","year":"1994","unstructured":"Hunt A, Stores G. Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire based study. Dev Med Child Neurol 1994; 36: 108-15.","journal-title":"Dev Med Child Neurol"},{"key":"ref_20","first-page":"166","article-title":"Autistic regression in relation to limbic pathology and epilepsy: report of two cases","volume":"35","author":"Deonna, T.; Ziegler, A.L.; Moura-Serra, J.; Innocenti, G.","year":"1993","unstructured":"Deonna T, Ziegler AL, Moura-Serra J, Innocenti G. Autistic regression in relation to limbic pathology and epilepsy: report of two cases. Dev Med Child Neurol 1993; 35: 166-76.","journal-title":"Dev Med Child Neurol"},{"key":"ref_21","first-page":"339","article-title":"Autism and tuberous sclerosis. JAutism Dev Disord","volume":"22","author":"Smalley, S.L.; Tanguay, P.E.; Smith, M.; Gutierrez, G.","year":"1992","unstructured":"Smalley SL, Tanguay PE, Smith M, Gutierrez G. Autism and tuberous sclerosis. JAutism Dev Disord 1992; 22: 339-55."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1097\/00000637-198805000-00005","article-title":"Argon laser surgery of skin lesions in tuberous sclerosis","volume":"20","author":"Pasyk, K.A.; Argenta, L.C.","year":"1988","unstructured":"Pasyk KA, Argenta LC. Argon laser surgery of skin lesions in tuberous sclerosis. Ann Plast Surg 1988; 20: 426-33.","journal-title":"Ann Plast Surg"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1097\/00000637-199204000-00015","article-title":"Shave excision and dermabrasion for facial angiofibroma in tuberous sclerosis","volume":"28","author":"Drake, D.B.; Morgan, R.F.; Cooper, P.H.","year":"1992","unstructured":"Drake DB, Morgan RF, Cooper PH. Shave excision and dermabrasion for facial angiofibroma in tuberous sclerosis. Ann Plast Surg 1992; 28: 377-8.","journal-title":"Ann Plast Surg"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1016\/0002-9149(90)91109-J","article-title":"Natural history of cardiac rhabdomyomas in infancy and childhood","volume":"66","author":"Smythe, J.F.; Dyck, J.D.; Smallhorn, J.F.; Freedom, R.","year":"1990","unstructured":"Smythe JF, Dyck JD, Smallhorn JF, Freedom R. Natural history of cardiac rhabdomyomas in infancy and childhood. Am J Cardiol 1990; 66: 1247-9.","journal-title":"Am J Cardiol"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0022-5347(17)32809-4","article-title":"The evolution of renal angiomyolipomas in patients with tuberous sclerosis","volume":"152","author":"JG, Van Baal; NJ, Smits; JN, Keeman; S, Verhoef","year":"1994","unstructured":"Van Baal JG, Smits NJ, Keeman JN, Verhoef S. The evolution of renal angiomyolipomas in patients with tuberous sclerosis. Jf Urol 1994; 152: 35-8.","journal-title":"Jf Urol"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1136\/bmj.305.6848.313-a","article-title":"Renal transplantation in tuberous sclerosis","volume":"305","author":"Pirson, Y.","year":"1992","unstructured":"Pirson Y. Renal transplantation in tuberous sclerosis. BMJ 1992; 305: 313.","journal-title":"BMJ"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1111\/j.1749-6632.1991.tb37787.x","article-title":"Brain tumours in tuberous sclerosis. A clinicopathological study of the Mayo Clinic experience","volume":"615","author":"Shepherd, C.W.; Scheithaur, B.; Gomez, M.R.","year":"1991","unstructured":"Shepherd CW, Scheithaur B, Gomez MR, et al. Brain tumours in tuberous sclerosis. A clinicopathological study of the Mayo Clinic experience. Ann NYAcad Sci 1991; 615: 378-9.","journal-title":"Ann NYAcad Sci"},{"key":"ref_28","article-title":"On the morbidity associated with tuberous sclerosis","author":"Webb, D.W.; Fryer, A.E.; Osborne, J.P.","unstructured":"Webb DW, Fryer AE, Osborne JP. On the morbidity associated with tuberous sclerosis. Dev Med Child Neurol (in press).","journal-title":"Dev Med Child Neurol"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1136\/adc.66.12.1375","article-title":"Cranial magnetic resonance imaging in patients with tuberous sclerosis and normal intellect","volume":"66","author":"Webb, D.W.; Thomson, J.L.G.; Osborne, J.P.","year":"1991","unstructured":"Webb DW, Thomson JLG, Osborne JP. Cranial magnetic resonance imaging in patients with tuberous sclerosis and normal intellect. Arch Dis Child 1991; 66: 1375-7.","journal-title":"Arch Dis Child"},{"key":"ref_30","first-page":"792","article-title":"Causes of death in patients with tuberous sclerosis","volume-title":"Mayo Clin Proc 1991","volume":"66","author":"Shepherd, C.W.; Gomez, M.R.; Crowson, C.S.","unstructured":"Shepherd CW, Gomez MR, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792-6."},{"key":"ref_31","first-page":"659","article-title":"Evidence that the gene for tuberous sclerosis is on chromosome 9","volume":"i:","author":"Fryer, A.E.; Chalmers, A.; Connor, J.M.","year":"1987","unstructured":"Fryer AE, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987; i: 659-61.","journal-title":"Lancet"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/ng0992-37","article-title":"Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease","volume":"2","author":"Kandt, R.S.; Haines, J.L.; Smith, M.","year":"1992","unstructured":"Kandt RS, Haines JL, Smith M, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature Genetics 1992; 2: 37-41.","journal-title":"Nature Genetics"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","article-title":"The European chromosome 16 tuberous sclerosis consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","year":"1993","unstructured":"The European chromosome 16 tuberous sclerosis consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-15.","journal-title":"Cell"},{"key":"ref_34","first-page":"244","article-title":"Loss of heterozygosity on chromosome 16p in hamartomata from patients with tuberous sclerosis","volume":"53","author":"Green, A.J.; Yates, J.R.W.","year":"1993","unstructured":"Green AJ, Yates JRW. Loss of heterozygosity on chromosome 16p in hamartomata from patients with tuberous sclerosis. Am J Hum Genet 1993; 53 (suppl): 244.","journal-title":"Am J Hum Genet"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg.28.6.417","article-title":"Non-penetrance in tuberous sclerosis","volume":"28","author":"Webb, D.W.; Osborne, J.P.","year":"1991","unstructured":"Webb DW, Osborne JP. Non-penetrance in tuberous sclerosis. JMed Genet 1991; 28: 417-9.","journal-title":"JMed Genet"},{"key":"ref_36","first-page":"487","article-title":"Echocardiography for genetic counselling in tuberous sclerosis","volume":"29","author":"Webb, D.W.; Thomas, R.G.; Osborne, J.P.","year":"1992","unstructured":"Webb DW, Thomas RG, Osborne JP. Echocardiography for genetic counselling in tuberous sclerosis. J Med Genet 1992; 29: 487-9.","journal-title":"J Med Genet"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.27.4.217","article-title":"The value of investigation for genetic counselling in tuberous sclerosis","volume":"27","author":"Fryer, A.E.; Chalmers, A.H.; Osborne, J.P.","year":"1990","unstructured":"Fryer AE, Chalmers AH, Osborne JP. The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet 1990; 27: 217-23.","journal-title":"J Med Genet"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.72.6.471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T21:46:51Z","timestamp":1601070411000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.72.6.471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,1]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1995,6,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.72.6.471","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,1]]}}}