{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:56:12Z","timestamp":1790034972904,"version":"4.0.1"},"reference-count":23,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1985,2,1]]},"DOI":"10.1136\/jnnp.48.2.150","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:16:40Z","timestamp":1226351800000},"page":"150-153","source":"Crossref","is-referenced-by-count":49,"title":["Neurological findings in patients with the fragile-X syndrome."],"prefix":"10.1136","volume":"48","author":[{"given":"P F","family":"Finelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"Pueschel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Padre-Mendoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M M","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1136\/jnnp.6.3-4.154","article-title":"A pedigree of mental defect showing sex linkage","volume":"6","author":"Martin, J.P.; Bell, J.","year":"1943","unstructured":"Martin JP, Bell J. A pedigree of mental defect showing sex linkage. J Neurol Psychiatr 1943;6: 154-7.","journal-title":"J Neurol Psychiatr"},{"issue":"87","key":"ref_2","first-page":"954","article-title":"Familial sex-linked mental retardation","volume":"1962","author":"Renpenning, H.; Gerrard, J.W.; Zaleski, W.A.; Tabata, T.","unstructured":"Renpenning H, Gerrard JW, Zaleski WA, Tabata T. Familial sex-linked mental retardation. Can Med Assoc J 1962;87:954-6.","journal-title":"Can Med Assoc J"},{"key":"ref_3","first-page":"231","article-title":"A marker X chromosome","volume":"21","author":"Lubs, H.A.","year":"1969","unstructured":"Lubs HA. A marker X chromosome. Am J Hum Genet 1969;21:231-44.","journal-title":"Am J Hum Genet"},{"key":"ref_4","first-page":"137","article-title":"Froto-Pessoa 0. Severe sex-linked mental retardation","volume":"19","author":"Escalante, J.A.; Grunspun, H.","year":"1971","unstructured":"Escalante JA, Grunspun H, Froto-Pessoa 0. Severe sex-linked mental retardation. J Genet Hum 1971; 19:137-40.","journal-title":"J Genet Hum"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1136\/jmg.12.4.367","article-title":"X-linked mental retardation associated with macro-orchidism","volume":"12","author":"Turner, G.; Eastman, C.; Casey, J.; McLeay, A.; Procopis, P.; Turner, B.","year":"1975","unstructured":"Turner G, Eastman C, Casey J, McLeay A, Procopis P, Turner B. X-linked mental retardation associated with macro-orchidism. J Med Genet 1975; 12: 367-71.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF00447283","article-title":"Inherited congenital normofunctional testicular hyperplasia and mental deficiency","volume":"33","author":"Cantu, J.M.; Scaglia, H.E.; Medina, M.","year":"1976","unstructured":"Cantu JM, Scaglia HE, Medina M, et al. Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum Genet 1976;33: 23-33.","journal-title":"Hum Genet"},{"issue":"3","key":"ref_7","first-page":"224","article-title":"Mental retardation with macro-orchidism and pedigree pattern consistent with X-linked inheritance","volume":"13","author":"Biederman, B.; Bowen, P.; Swallow, K.","year":"1977","unstructured":"Biederman B, Bowen P, Swallow K. Mental retardation with macro-orchidism and pedigree pattern consistent with X-linked inheritance. Birth Defects 1977; 13(3C): 224-5.","journal-title":"Birth Defects"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1001\/jama.1977.03280160040025","article-title":"X-linked mental deficiency megalotestes syndrome","volume":"238","author":"Ruvalcaba, R.H.A.; Myhre, S.A.; Roosen-Runge, E.C.; Bechwith, J.B.","year":"1977","unstructured":"Ruvalcaba RHA, Myhre SA, Roosen-Runge EC, Bechwith JB. X-linked mental deficiency megalotestes syndrome. JAMA 1977; 238: 1646-50.","journal-title":"JAMA"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ajmg.1320020410","article-title":"The X-linked syndrome of macrp-orchidism and mental retardation: further observations","volume":"2","author":"Bowen, P.; Biederman, B.; Swallow, K.A.","year":"1978","unstructured":"Bowen P, Biederman B, Swallow KA. The X-linked syndrome of macrp-orchidism and mental retardation: further observations. Am J Med Genet 1978;2:409-","journal-title":"Am J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1056\/NEJM197812282992624","article-title":"Marker X-chromosomes, mental retardation and macro-orchidism","volume":"299","author":"Turner, G.; Till, R.; Daniel, A.","year":"1978","unstructured":"'0 Turner G, Till R, Daniel A. Marker X-chromosomes, mental retardation and macro-orchidism. N Engl J Med 1978; 299: 1472.","journal-title":"N Engl J Med"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00273283","article-title":"X-linked mental retardation with macro-orchidism and the fragile site on Xq 27 or 28","volume":"48","author":"Sutherland, G.R.; Ashforth, P.L.C.","year":"1979","unstructured":"Sutherland GR, Ashforth PLC. X-linked mental retardation with macro-orchidism and the fragile site on Xq 27 or 28. Hum Genet 1979;48:117-20.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1056\/NEJM197903293001320","article-title":"More on markerX chromosomes, mental retardation and macroorchidism","volume":"300","author":"Jacobs, P.A.; Mayer, M.; Rudak, E.","year":"1979","unstructured":"Jacobs PA, Mayer M, Rudak E, et al. More on markerX chromosomes, mental retardation and macroorchidism. N Engl J Med 1979; 300:737-8.","journal-title":"N Engl J Med"},{"key":"ref_13","first-page":"5","article-title":"X-linked mental retardation with macro-orchidism and marker-X chromosomes","author":"Howard-Peebles, P.N.; Stoddard, G.R.","year":"1979","unstructured":"Howard-Peebles PN, Stoddard GR. X-linked mental retardation with macro-orchidism and marker-X chromosomes. Hum Genet 1979;5&247-51.","journal-title":"Hum Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/S0022-3476(80)80552-X","article-title":"X-linked mental retardation, macro-orchidism, and the Xq 27 fragile site","volume":"96","author":"Turner, G.; Daniel, A.; Frost, M.","year":"1980","unstructured":"Turner G, Daniel A, Frost M. X-linked mental retardation, macro-orchidism, and the Xq 27 fragile site. J Pediatr 1980;96:837-41.","journal-title":"J Pediatr"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ajmg.1320070403","article-title":"Editorial comment: X-linked mental retardation","volume":"7","author":"G, Is Turner; JM, Opitz","year":"1980","unstructured":"Is Turner G, Opitz JM. Editorial comment: X-linked mental retardation. Am J Med Genet 1980;7:407-15.","journal-title":"Am J Med Genet"},{"key":"ref_16","first-page":"372","article-title":"Familial X-linked mental retardation syndrome associated with minor congential anomalies, macro-orchidism, and fragile X-chromosome","volume":"87","author":"Pueschel, S.M.; Hays, R.M.; Mendoza, T.","year":"1983","unstructured":"Pueschel SM, Hays RM, Mendoza T. Familial X-linked mental retardation syndrome associated with minor congential anomalies, macro-orchidism, and fragile X-chromosome. Am J Ment Defic 1983;87:372-6.","journal-title":"Am J Ment Defic"},{"key":"ref_17","first-page":"123","article-title":"Fragile X chromosome and X-linked mental retardation","volume":"127","author":"Larbisseau, A.; Jean, P.; Messier, B.; Richer, C.-L.","year":"1982","unstructured":"Larbisseau A, Jean P, Messier B, Richer C-L. Fragile X chromosome and X-linked mental retardation. Can Med Assoc J 1982; 127: 123-6.","journal-title":"Can Med Assoc J"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jmg.14.1.46","article-title":"Familial X-linked mental retardation with an X chromosome abnormality","volume":"14","author":"Harvey, J.; Judge, C.; Weiner, S.","year":"1977","unstructured":"Harvey J, Judge C, Weiner S. Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet 1977;14:46-50.","journal-title":"J Med Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/ajmg.1320070405","article-title":"X-linked mental retardation with macro-orchidism and markerX chromosomes","volume":"7","author":"Martin, R.H.; Lin, C.C.; Mathies, B.J.; Lowry, R.B.","year":"1980","unstructured":"Martin RH, Lin CC, Mathies BJ, Lowry RB. X-linked mental retardation with macro-orchidism and markerX chromosomes. Am J Med Genet 1980;7:433-41.","journal-title":"Am J Med Genet"},{"key":"ref_20","article-title":"Association of fragile X syndrome with autism","author":"Brown, W.T.; Friedman, E.; Jenkins, E.C.","unstructured":"Brown WT, Friedman E, Jenkins EC, et al. Association of fragile X syndrome with autism. Lancet 1982; 1: 100."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/BF01531374","article-title":"Infantile autism associated with the Fragile-X syndrome","volume":"12","author":"Meryash, D.L.; Szymanski, L.S.; Gerald, P.S.","year":"1982","unstructured":"Meryash DL, Szymanski LS, Gerald PS. Infantile autism associated with the Fragile-X syndrome. J Autism Dev Disord 1982; 12:295-301.","journal-title":"J Autism Dev Disord"},{"key":"ref_22","first-page":"13648","article-title":"Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects and cytogenetics","volume":"31","author":"Sutherland, G.R.","year":"1979","unstructured":"Sutherland GR. Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects and cytogenetics. Am J Hum Genet 1979;31: 13648.","journal-title":"Am J Hum Genet"},{"key":"ref_23","first-page":"\"662","article-title":"Heterozygous expression of X-linked mental retardation and X-chromosome marker fra","volume":"303","author":"Turner, G.; Brookwell, R.; Daniel, A.; Selikowitz, M.; Zilibowitz, M.","year":"1980","unstructured":"Turner G, Brookwell R, Daniel A, Selikowitz M, Zilibowitz M. Heterozygous expression of X-linked mental retardation and X-chromosome marker fra (X) (q27). N Engi J Med 1980;303:662-4. *24 Jenkins EC, Brown WT, Duncan CJ, et al. Feasibility of fra X chromosome prenatal diagnosis demonstrated. Lancet 1981;2:1292. 2S Shapiro L, Wilmot PL, Breholz P, et al. Prenatal diagnosis of fragile X chromosome. Lancet 1982;1:99-","journal-title":"Engi J Med; Feasibility of fra X chromosome prenatal diagnosis demonstrated"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.48.2.150","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T04:08:23Z","timestamp":1601093303000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.48.2.150"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,2,1]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,2,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.48.2.150","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1985,2,1]]}}}