{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:17:35Z","timestamp":1760782655379},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1986,8,1]],"date-time":"1986-08-01T00:00:00Z","timestamp":523238400000},"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":[[1986,8]]},"DOI":"10.1007\/bf00279101","type":"journal-article","created":{"date-parts":[[2004,10,5]],"date-time":"2004-10-05T08:49:14Z","timestamp":1096966154000},"page":"358-364","source":"Crossref","is-referenced-by-count":47,"title":["First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination"],"prefix":"10.1007","volume":"73","author":[{"given":"E.","family":"Mornet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bou\ufffd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Raux-Demay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Couillin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. F.","family":"Oury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Dumez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Dausset","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bou\ufffd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"6289","DOI":"10.1073\/pnas.80.20.6289","volume":"80","author":"D Cohen","year":"1983","unstructured":"Cohen D, Paul P, Font MP, Cohen O, Sayagh B, Marcadet A, Busson M, Mahouy G, Cann H, Dausset J (1983) Analysis of HLA class I genes with restriction endonuclease fragments: implications for polymorphism of the human MHC. Proc Natl Acad Sci USA 80:6289?6292","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"7870","DOI":"10.1073\/pnas.81.24.7870","volume":"81","author":"D Cohen","year":"1984","unstructured":"Cohen D, Le Gall I, Marcadet A, Font MP, Lalouel JM, Dausset J (1984) Clusters of HLA class II restriction fragments describe allelic series. Proc Natl Acad Sci USA 81:7870?7874","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1600-065X.1985.tb01131.x","volume":"85","author":"D Cohen","year":"1985","unstructured":"Cohen D, Paul P, Legall I, Marcadet A, Font MP, Cohen-Haguenauer O, Sayagh B, Cann H, Lalouel JM, Dausset J (1985) DNA polymorphism of HLA class I and class II regions. Immunol Rev 85:87?105","journal-title":"Immunol Rev"},{"key":"CR4","first-page":"1976","volume":"I","author":"P Couillin","year":"1979","unstructured":"Couillin P, Nicolas H, Bou\u00e9 J, Bou\u00e9 A (1979) HLA typing of amniotic fluid cells applied to prenatal diagnosis of congenital adrenal hyperplasia. Lancet I:1976?1977","journal-title":"Lancet"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/pd.1970010107","volume":"1","author":"P Couillin","year":"1981","unstructured":"Couillin P, Bou\u00e9 J, Nicolas H, Cheruy C, Bou\u00e9 A (1981) Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing. Prenat Diagn 1:25?33","journal-title":"Prenat Diagn"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/j.1399-0039.1982.tb01424.x","volume":"19","author":"P Couillin","year":"1982","unstructured":"Couillin P, Rappaport R, Kutten F, Canlorbe P, Hors J, Marcelli Barge A, Feingold J, Bou\u00e9 J, Bou\u00e9 A (1982) HLA and 21-hydroxylase deficiency in the French population. Tissue Antigens 19: 100?107","journal-title":"Tissue Antigens"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1749-6632.1985.tb14588.x","volume":"458","author":"P Couillin","year":"1985","unstructured":"Couillin P, Rappaport R, Kutten F, Hors J, Feingold J, Bou\u00e9 J, Bou\u00e9 A (1985) HLA associations in 21-hydroxylase deficiency (congenital adrenal hyperplasia) in France. Ann NY Acad Sci 458:41?45","journal-title":"Ann NY Acad Sci"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1016\/S0140-6736(77)90362-2","volume":"II","author":"B Dupont","year":"1977","unstructured":"Dupont B, Smithwick EM, Oberfield SE, Lee TD, Levine LB (1977) Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet II:1309?1312","journal-title":"Lancet"},{"key":"CR9","first-page":"693","volume-title":"Histocompatibility testing 1980","author":"B Dupont","year":"1980","unstructured":"Dupont B, Pollack MS, Levine LS, O'Neill GJ, Hawkins BR, New MI (1980) Congenital adrenal hyperplasia. In: Terasaki PI (ed) Histocompatibility testing 1980. UCLA Tissue Typing Laboratory, Los Angeles, pp 693?706"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/pd.1970010305","volume":"1","author":"MG Forest","year":"1981","unstructured":"Forest MG, Betuel H, Couillin P, Bou\u00e9 A (1981) Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy. Prenat Diagn 1:197?208","journal-title":"Prenat Diagn"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1056\/NEJM198310063091405","volume":"309","author":"M Goossens","year":"1983","unstructured":"Goossens M, Dumez Y, Kaplan L, Lupker M, Chabret C, Henrion R, Rosa J (1983) Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med 309:831?833","journal-title":"N Engl J Med"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1002\/j.1460-2075.1984.tb02026.x","volume":"3","author":"K Gustafsson","year":"1984","unstructured":"Gustafsson K, Wiman K, Emmoth E, Larhammar D, Bohme J, Hyldig-Nielsen J, Ronne H, Peterson PA, Rask L (1984) Mutations and selection in the generation of class II histocompatibility antigen polymorphism. EMBO J 3:1655?1662","journal-title":"EMBO J"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1056\/NEJM197810262991702","volume":"299","author":"LS Levine","year":"1978","unstructured":"Levine LS, Zachmann M, New MI, Prader A, Pollack MS, O'Neil GJ, Yang SY, Oberfield SE, Dupont B (1978) Genetic mapping of the 21-hydroxylase deficiency gene within the HLA-linkage group. N Engl J Med 299:911?915","journal-title":"N Engl J Med"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1056\/NEJM198505163122004","volume":"312","author":"A Marcadet","year":"1985","unstructured":"Marcadet A, Cohen D, Dausset J, Fisher A, Durandy A, Griscelli C (1985) Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA. N Engl J Med 312:1287?1292","journal-title":"N Engl J Med"},{"key":"CR15","first-page":"123","volume":"58","author":"MI New","year":"1981","unstructured":"New MI, Dupont B, Pollack MS, Levine LS (1981) The biochemical basis for genotyping 21-hydroxylase deficiency. Hum Genet 58: 123?127","journal-title":"Hum Genet"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1749-6632.1985.tb14597.x","volume":"458","author":"S Parry","year":"1985","unstructured":"Parry S, Pollack MS, Lou M, Green O, Nussbaum R, Clayton G, Dupont B, New MI (1985) Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia. Ann NY Acad Sci 458:111?129","journal-title":"Ann NY Acad Sci"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0140-6736(78)90700-6","volume":"I","author":"DA Price","year":"1978","unstructured":"Price DA, Klouda PT, Harris R (1978) HLA and congenital adrenal hyperplasia linkage confirmed. Lancet I:930?931","journal-title":"Lancet"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1073\/pnas.78.1.616","volume":"78","author":"AK Sood","year":"1981","unstructured":"Sood AK, Pereira D, Weissman SM (1981) Isolation and partial nucleotide sequence of a cDNA clone for human histocompatibility antigen HLA B by use of an oligonucleotide primer. Proc Natl Acad Sci USA 78:616?620","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","volume":"98","author":"EM Southern","year":"1975","unstructured":"Southern EM (1975) Detection of specific sequences among DNA fragments separated by electrophoresis. J Mol Biol 98:503?517","journal-title":"J Mol Biol"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1073\/pnas.81.7.1986","volume":"81","author":"PC White","year":"1984","unstructured":"White PC, New MI, Dupont B (1984) Cloning and expression of a cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 81:1986?1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1073\/pnas.82.4.1089","volume":"82","author":"PC White","year":"1985","unstructured":"White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement man. Proc Natl Acad Sci USA 82:1089?1093","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/S0140-6736(81)90583-3","volume":"II","author":"R Williamson","year":"1981","unstructured":"Williamson R, Eskdale J, Coleman DV, Niazi M, Loeffer FE, Modell BM (1981) Direct gene analysis of chorionic villi: a possible technique for first trimester antenatal diagnosis of hemoglobinopathies. Lancet II:1125?1127","journal-title":"Lancet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00279101.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00279101\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00279101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T08:16:13Z","timestamp":1585901773000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00279101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1986,8]]}},"alternative-id":["BF00279101"],"URL":"https:\/\/doi.org\/10.1007\/bf00279101","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}