{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:32:38Z","timestamp":1792675958494,"version":"4.5.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1981,1,1]],"date-time":"1981-01-01T00:00:00Z","timestamp":347155200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1981]]},"DOI":"10.1007\/bf00295459","type":"journal-article","created":{"date-parts":[[2004,11,7]],"date-time":"2004-11-07T23:13:49Z","timestamp":1099869229000},"page":"281-289","source":"Crossref","is-referenced-by-count":65,"title":["X-linked mental retardation with the fragile X. A study of 15 families"],"prefix":"10.1007","volume":"59","author":[{"given":"J. F.","family":"Mattei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Mattei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Aumeras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Auger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Giraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ajmg.1320020410","volume":"2","author":"P Bowen","year":"1978","unstructured":"Bowen P, Biederman B, Swallow KA (1978) The X-linked syndrome of macro-orchidism and mental retardation: further observations. Am J Med Genet 2:409?414","journal-title":"Am J Med Genet"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF00447283","volume":"33","author":"JM Cantu","year":"1976","unstructured":"Cantu JM, Scaglia ME, Medina M, Gonzales-Diddi M, Morato T, Moreno ME, Perez-Palacios G (1976) Innerited congenital normofunctional testicular hyperplasia and mental deficiency. Hum Genet 33:23?33","journal-title":"Hum Genet"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/S0140-6736(81)92652-0","volume":"1","author":"MG Daker","year":"1981","unstructured":"Daker MG, Chidiac P, Fear CN, Berry AC (1981) Fragile X in a normal male: a cautionary tale. Lancet 1:780","journal-title":"Lancet"},{"key":"CR4","first-page":"5","volume-title":"Biologie clinique (Monographie Annuelle de la Soci\ufffdt\ufffd Fran\ufffdaise de Biologie Clinique)","author":"B Dutrillaux","year":"1972","unstructured":"Dutrillaux B, Couturier J (1972) Techniques d'analyses chromosomiques. In: Hartmann L, Lejeune J (eds) Biologie clinique (Monographie Annuelle de la Soci\ufffdt\ufffd Fran\ufffdaise de Biologie Clinique). Expansion Scientifique, Paris, p 5"},{"key":"CR5","first-page":"3179","volume":"276","author":"B Dutrillaux","year":"1973","unstructured":"Dutrillaux B, Laurent C, Couturier J, Lejeune J (1973) Coloration par l'acridine orange de chromosomes pr\ufffdalablement trait\ufffds par le 5-bromod\ufffdoxyuridine (BUDR). CR Acad Sci [D] (Paris) 276:3179","journal-title":"CR Acad Sci [D] (Paris)"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/ajmg.1320070409","volume":"7","author":"P Fox","year":"1980","unstructured":"Fox P, Fox D, Gerrard JW (1980) X-linked mental retardation: Renpenning revisited. Am J Med Genet 7:491?495","journal-title":"Am J Med Genet"},{"key":"CR7","first-page":"387","volume":"38","author":"F Giraud","year":"1981","unstructured":"Giraud F, Mattei JF (1981) Retard mental et fragilit\ufffd du chromosome X: fra(X)(q28). Arch Fr Pediatr 38:387?391","journal-title":"Arch Fr Pediatr"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/BF00278880","volume":"34","author":"F Giraud","year":"1976","unstructured":"Giraud F, Ayme S, Mattei JF, Mattei MG (1976) Constitutional chromosomal breakage. Hum Genet 34:125?136","journal-title":"Hum Genet"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jmg.14.1.46","volume":"14","author":"J Harvey","year":"1977","unstructured":"Harvey J, Judge C, Wiener S (1977) Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet 14: 46?50","journal-title":"J Med Genet"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/ajmg.1320070406","volume":"7","author":"DS Herbst","year":"1980","unstructured":"Herbst DS (1980) Non specific X-linked mental retardation: I: A review with information from 24 new families. Am J Med Genet 7:443?460","journal-title":"Am J Med Genet"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.1320070407","volume":"7","author":"DS Herbst","year":"1980","unstructured":"Herbst DS, Miller JR (1980) Non specific X-linked mental retardation. II: The frequency in British Columbia. Am J Med Genet 7:461?469","journal-title":"Am J Med Genet"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/ajmg.1320070410","volume":"7","author":"PN Howard-Peebles","year":"1980","unstructured":"Howard-Peebles PN (1980) Fragile sites in human chromosomes. II. Demonstration of the fragile sites Xq27 in carriers of X-linked mental retardation. Am J Med Genet 7:497?501","journal-title":"Am J Med Genet"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1399-0004.1981.tb00703.x","volume":"19","author":"PN Howard-Peebles","year":"1981","unstructured":"Howard-Peebles PN, Pryor JC (1981) Fragile sites in human chromosomes. I. The effect of methionine on the Xq fragile site. Clin Genet 19:228?232","journal-title":"Clin Genet"},{"key":"CR14","first-page":"629","volume":"32","author":"PN Howard-Peebles","year":"1980","unstructured":"Howard-Peebles PN, Stoddard G (1980a) Race distribution in X-linked mental retardation with macro-orchidism and fragile site in Xq. Am J Hum Genet 32:629?630","journal-title":"Am J Hum Genet"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1399-0004.1980.tb00120.x","volume":"17","author":"PN Howard-Peebles","year":"1980","unstructured":"Howard-Peebles PN, Stoddard GR (1980b) Familial X-linked mental retardation with a marker X chromosomeand its relationship to macro-orchidism. Clin Genet 17:125?128","journal-title":"Clin Genet"},{"key":"CR16","first-page":"214","volume":"31","author":"PN Howard-Peebles","year":"1979","unstructured":"Howard-Peebles PN, Stoddard GR, Mims MG (1979) Familial X-linked mental retardation, verbal disability and marker X chromosomes. Am J Hum Genet 31:214?222","journal-title":"Am J Hum Genet"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF00273509","volume":"53","author":"PB Jacky","year":"1980","unstructured":"Jacky PB, Dill FJ (1980) Expression in fibroblast culture of the satellited-X chromsome associated with familial sex-linked mental retardation. Hum Genet 53:267?269","journal-title":"Hum Genet"},{"key":"CR18","first-page":"737","volume":"300","author":"PA Jacobs","year":"1979","unstructured":"Jacobs PA, Mayer M, Rudak E, Gerrard J, Ives EJ, Shokeir MHK, Hall J, Jennings M, Hoehn H (1979) More on marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med 300:737?738","journal-title":"N Engl J Med"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ajmg.1320070408","volume":"7","author":"PA Jacobs","year":"1980","unstructured":"Jacobs PA, Glover TW, Mayer M, Fox P, Gerrard JW, Dunn HG, Herbst DS (1980) X-linked mental retardation: a study of seven families. Am J Med Genet 7:471?489","journal-title":"Am J Med Genet"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/ajmg.1320070404","volume":"7","author":"M Jennings","year":"1980","unstructured":"Jennings M, Hall JG, Hoehn H (1980) Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet 7:417?432","journal-title":"Am J Med Genet"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320070411","volume":"7","author":"B Kaiser-McCaw","year":"1980","unstructured":"Kaiser-McCaw B, Hecht F, Cadien JD, Moore BC (1980) Letter to the Editor: Fragile X-linked mental retardation. Am J Med Genet 7: 503?505","journal-title":"Am J Med Genet"},{"key":"CR22","first-page":"231","volume":"21","author":"HA Lubs","year":"1969","unstructured":"Lubs HA (1969) A marker X-chromosome. Am J Hum Genet 21:231?244","journal-title":"Am J Hum Genet"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/ajmg.1320070405","volume":"7","author":"RM Martin","year":"1980","unstructured":"Martin RM, Lin CC, Mathies CC, Lowry RB (1980) X-linked mental retardation with macro-orchidism and marker-X-chromosomes. Am J Med Genet 7:433?441","journal-title":"Am J Med Genet"},{"key":"CR24","first-page":"LIII","volume":"37","author":"JF Mattei","year":"1980","unstructured":"Mattei JF, Ardissone JP, Mattei MG, Rebuffel P, Giraud F (1980) Etude clinique, cytog\ufffdn\ufffdtique et enzymatique de treize observations d'enc\ufffdphalopathie lie'e \ufffd une fragilit\ufffd constitutionnelle du chromosome X. Arch Fr Pediatr 37:LIII-LXVI","journal-title":"Arch Fr Pediatr"},{"key":"CR25","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/BF00274702","volume":"56","author":"MG Mattei","year":"1981","unstructured":"Mattei MG, Mattei JF, Vidal I, Giraud F (1981a) Structural anomalies of the X chromosome and inactivation centre. Hum Genet 56: 401?408","journal-title":"Hum Genet"},{"key":"CR26","doi-asserted-by":"crossref","unstructured":"Mattei MG, Mattei JF, Vidal I, Giraud F (1981b) Expression in lymphocyte and fibroblast culture of the fragile X chromosome a new technical approach. Hum Genet (in press)","DOI":"10.1007\/BF00293069"},{"key":"CR27","first-page":"381","volume":"27","author":"A Orsini","year":"1972","unstructured":"Orsini A, Vovan L, Brusquet Y, Perrimond H, Mattei JF (1972) Enqu\ufffdte sur la transmission du d\ufffdficit en glucose-6-phosphate-d\ufffdshydrog\ufffdnase. Etude \ufffd propos de 34 familles groupant 86 sujets enzymop\ufffdniques. P\ufffddiatrie 27:381?386","journal-title":"P\ufffddiatrie"},{"key":"CR28","first-page":"240","volume":"7","author":"A Prader","year":"1966","unstructured":"Prader A (1966) Testicular size: Assessment in clinical importance. Triangle 7:240?243","journal-title":"Triangle"},{"key":"CR29","first-page":"954","volume":"87","author":"H Renpenning","year":"1962","unstructured":"Renpenning H, Gerrard JW, Zaleski WA, Tabata T (1962) Familial sexlinked mental retardation. Can Med Assoc J 87:954?956","journal-title":"Can Med Assoc J"},{"key":"CR30","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1126\/science.877551","volume":"197","author":"GR Sutherland","year":"1977","unstructured":"Sutherland GR (1977) Fragile sites on human chromsomes: demonstration of their dependence on the type of tissue culture medium. Science 197:265?266","journal-title":"Science"},{"key":"CR31","first-page":"624","volume":"2","author":"GR Sutherland","year":"1978","unstructured":"Sutherland GR (1978) Carrier detection in X-linked mental retardation. Med J Anat 2:624","journal-title":"Med J Anat"},{"key":"CR32","first-page":"125","volume":"31","author":"GR Sutherland","year":"1979","unstructured":"Sutherland GR (1979a) Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am J Hum Genet 31:125?135","journal-title":"Am J Hum Genet"},{"key":"CR33","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF00289445","volume":"53","author":"GR Sutherland","year":"1979","unstructured":"Sutherland GR (1979b) Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives. Hum Genet 53:23?127","journal-title":"Hum Genet"},{"key":"CR34","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00273283","volume":"48","author":"GR Sutherland","year":"1979","unstructured":"Sutherland GR, Ashford PLC (1979) X-linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28. Hum Genet 48: 117?120","journal-title":"Hum Genet"},{"key":"CR35","first-page":"205","volume":"22","author":"C Turleau","year":"1979","unstructured":"Turleau C, Czernichow P, Gorin R, Royer P, Grouchy J de (1979) D\ufffdbilit\ufffd mentale li\ufffde au sexe, visage particulier, macro-orchidie et zone de fragilit\ufffd de l'X. Ann Genet 22:205?209","journal-title":"Ann Genet"},{"key":"CR36","unstructured":"Turner G, Opitz JM (1980) Editorial comment: X-linked mental retardation. Am J Med Genet 407?415"},{"key":"CR37","first-page":"624","volume":"2","author":"G Turner","year":"1978","unstructured":"Turner G, Till R, Daniel A (1978a) Carrier detection in X-linked mental retardation. Med J Anat 2:624","journal-title":"Med J Anat"},{"key":"CR38","first-page":"1472","volume":"299","author":"G Turner","year":"1978","unstructured":"Turner G, Till R, Daniel A (1978b) Marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med 299:1472","journal-title":"N Engl J Med"},{"key":"CR39","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1056\/NEJM198009183031202","volume":"303","author":"G Turner","year":"1980","unstructured":"Turner G, Brookwell R, Daniel A, Selikowitz M, Zilibowitz M (1980c) Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27). N Engl J Med 303:662?664","journal-title":"N Engl J Med"},{"key":"CR40","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/S0022-3476(80)80552-X","volume":"96","author":"G Turner","year":"1980","unstructured":"Turner G, Daniel A, Frost M (1980b) X-linked mental retardation, macro-orchidism and the Xq27 fragile site. J Pediatr 96:837?841","journal-title":"J Pediatr"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00295459.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00295459\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00295459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T16:12:19Z","timestamp":1554739939000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00295459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981]]},"references-count":40,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1981]]}},"alternative-id":["BF00295459"],"URL":"https:\/\/doi.org\/10.1007\/bf00295459","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981]]}}}