{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T16:10:18Z","timestamp":1706803818726},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1996,4,1]],"date-time":"1996-04-01T00:00:00Z","timestamp":828316800000},"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":[[1996,4]]},"DOI":"10.1007\/bf02267058","type":"journal-article","created":{"date-parts":[[2005,12,8]],"date-time":"2005-12-08T17:20:24Z","timestamp":1134062424000},"page":"414-417","source":"Crossref","is-referenced-by-count":8,"title":["Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization"],"prefix":"10.1007","volume":"97","author":[{"given":"Giuseppe","family":"Calabrese","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Francalanci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Boldrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giandomenico","family":"Palka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesare","family":"Bosman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02267058_CR1","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/0888-7543(91)90374-N","volume":"9","author":"A Baldini","year":"1991","unstructured":"Baldini A, Ward DC (1991) In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics 9:770\u2013774","journal-title":"Genomics"},{"key":"BF02267058_CR2","first-page":"661","volume":"39","author":"PE Barker","year":"1986","unstructured":"Barker PE, Testa JR, Oarsa NZ, Snyder R (1986) High molecular weight DNA from fixed cytogenetic preparations. Am J Hum Genet 39:661\u2013668","journal-title":"Am J Hum Genet"},{"key":"BF02267058_CR3","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.30.10.822","volume":"30","author":"J Burn","year":"1993","unstructured":"Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (1993) Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22gl1. J Med Genet 30:822\u2013824","journal-title":"J Med Genet"},{"key":"BF02267058_CR4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1006\/geno.1994.1497","volume":"23","author":"G Calabrese","year":"1994","unstructured":"Calabrese G, Sallese G, Stronaiuolo L, Palka G, De Blasi A (1994) Chromosome mapping of the human arrestin (SAG), betaarrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes. Genomics 23:286\u2013288","journal-title":"Genomics"},{"key":"BF02267058_CR5","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1006\/mcpr.1993.1032","volume":"7","author":"F Capon","year":"1993","unstructured":"Capon F, Melchionda S, Gennarelli M, Lo Cicero S, Giacanelli M, Novelli G, Dallapiccola B (1993 a) A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients. Mol Cell Probes 7:221\u2013226","journal-title":"Mol Cell Probes"},{"key":"BF02267058_CR6","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1101\/gr.3.3.211","volume":"3","author":"F Capon","year":"1993","unstructured":"Capon F, Lo Cicero S, Novelli G, Dallapiccola B (1993 b) PCR protocol for DNA recovery from Spurr's embedded muscle biopsies. PCR Methods Appl 3:211\u2013212","journal-title":"PCR Methods Appl"},{"key":"BF02267058_CR7","first-page":"964","volume":"51","author":"AH Carey","year":"1992","unstructured":"Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, Nordenskjold M, Williamson R, Scambler PJ (1992) Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 51:964\u2013970","journal-title":"Am J Hum Genet"},{"key":"BF02267058_CR8","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF00278938","volume":"57","author":"A Chapelle de la","year":"1991","unstructured":"Chapelle A de la, Herva R, Kovisto M, Aula P (1991) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57:253\u2013256","journal-title":"Hum Genet"},{"key":"BF02267058_CR9","first-page":"924","volume":"50","author":"DA Driscoll","year":"1992","unstructured":"Driscoll DA, Budarf ML, Emanuel B (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924\u2013933","journal-title":"Am J Hum Genet"},{"key":"BF02267058_CR10","first-page":"639","volume-title":"Prenatal diagnosis and screening","author":"MA Ferguson-Smith","year":"1992","unstructured":"Ferguson-Smith MA (1992) The potential of molecular cytogenetics. In: Brock DHJ, Rodeck CH, Ferguson-Smith MA (eds) Prenatal diagnosis and screening. Churchill Livingstone, Edinburgh, pp 639\u2013650"},{"key":"BF02267058_CR11","first-page":"448","volume":"14","author":"J Finke","year":"1993","unstructured":"Finke J, Fritzen R, Ternes P, Lange W, Dolken G (1993) An improved strategy and a useful housekeeping gene for RNA analysis from formalin-fixed, paraffin-embedded tissues by PCR. Biotechniques 14:448\u2013453","journal-title":"Biotechniques"},{"key":"BF02267058_CR12","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1101\/gr.1.1.46","volume":"1","author":"CE Greer","year":"1991","unstructured":"Greer CE, Lund JK, Manos MM (1991) PCR amplification from paraffin-embedded tissues: recommendations on fixatives for long term storage and prospective studies. PCR Methods Appl 1:46\u201350","journal-title":"PCR Methods Appl"},{"key":"BF02267058_CR13","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1093\/hmg\/2.12.2099","volume":"2","author":"S Halford","year":"1993","unstructured":"Halford S, Wadey R, Roberts C, Daw SCM, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, Francis F, Lehrach H, Williamson R, Wilson DI, Goodship J, Cross I, Bum J, Scambler PJ (1993) Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum Mol Genet 2:2099\u20132107","journal-title":"Hum Mol Genet"},{"key":"BF02267058_CR14","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1177\/31.11.6619538","volume":"31","author":"DW Hedley","year":"1983","unstructured":"Hedley DW, Friedlander ML, Taylor IW, Rugg CA, Musgrove EA (1983) Method for analysis of cellular DNA content of paraffin-embedded pathological material using flow cytometry. J Histochem Cytochem 31:1333\u20131335","journal-title":"J Histochem Cytochem"},{"key":"BF02267058_CR15","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-4612-4318-2","volume-title":"Ancient DNA","author":"B Herrmann","year":"1994","unstructured":"Herrmann B, Hummell S (1994) Ancient DNA. Springer, Berlin Heidelberg New York"},{"key":"BF02267058_CR16","first-page":"503","volume":"4","author":"AHN Hopman","year":"1991","unstructured":"Hopman AHN, Hooren E van, Kaa E van de, Vooijs PGP, Ramaekers FCS (1991) Detection of numerical chromosome aberrations using in situ hybridization in paraffin sections of routine processed bladder cancers. Mod Pathol 4:503\u2013513","journal-title":"Mod Pathol"},{"key":"BF02267058_CR17","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1101\/gr.1.4.229","volume":"1","author":"B Horsthemke","year":"1992","unstructured":"Horsthemke B, Claussen U, Hese S, Ludecke HJ (1992) PCR-mediated cloning of HpaII tiny fragments from microdissected human chromosomes. PCR Methods Appl 1:229\u2013237","journal-title":"PCR Methods Appl"},{"key":"BF02267058_CR18","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1093\/hmg\/1.5.297","volume":"1","author":"DH Ledbetter","year":"1992","unstructured":"Ledbetter DH (1992) The \u201ccolorizing\u201d of cytogenetics: is it ready for prime time? Hum Mol Genet 1:297\u2013299","journal-title":"Hum Mol Genet"},{"key":"BF02267058_CR19","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/ajmg.1320550130","volume":"55","author":"S Li","year":"1995","unstructured":"Li S, Tuck-Muller CM, Yan Q, Wertelecki W, Chen H (1995) A rapid method for PCR amplification of DNA directly from cells fixed in Carnoy's fixative. Am J Med Genet 55:116\u2013119","journal-title":"Am J Med Genet"},{"key":"BF02267058_CR20","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0003-2697(92)90468-M","volume":"200","author":"YA Luqmani","year":"1992","unstructured":"Luqmani YA, Smith J, Coombes RC (1992) Polymerase chain reaction-aided analysis of gene expression in frozen tissue sections. Anal Biochem 200:291\u2013295","journal-title":"Anal Biochem"},{"key":"BF02267058_CR21","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1101\/gr.2.4.354","volume":"2","author":"JA Macoska","year":"1993","unstructured":"Macoska JA, Benson PD, Turkeri LN, Haas GP, Sakr W (1993) PCR-based genetic analysis of DNA from autopsied prostate tissue. PCR Methods Appl 2:354\u2013355","journal-title":"PCR Methods Appl"},{"key":"BF02267058_CR22","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/0885-4505(90)90075-C","volume":"44","author":"ERB McCabe","year":"1990","unstructured":"McCabe ERB, Huang Y, Descartes M, Zhang YH, Fenwick RG (1990) DNA from Guthrie spots for diagnosis of DMD by multiplex PCR. Biochem Med Met Biol 44:294\u2013295","journal-title":"Biochem Med Met Biol"},{"key":"BF02267058_CR23","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1136\/jmg.29.8.571","volume":"29","author":"DG Morton","year":"1992","unstructured":"Morton DG, Macdonald F, Cachon-Gonzalez MB, Rindl PM, Neoptolemos JP, Keighley MRB, Delhanty JDA, McKeown CM, Kilpatrik M, Hulten MA (1992) The use of DNA from paraffin was preserved tissue for predictive diagnosis in familial adenomatous polyposis. J Med Genet 29:571\u2013573","journal-title":"J Med Genet"},{"key":"BF02267058_CR24","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF00225196","volume":"95","author":"AZ Novak","year":"1995","unstructured":"Novak AZ, Kokai GK, Popovic VP, Ludoski MD, Jurukovski VA (1995) Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution on a patient with Turner's syndrome and chromosomal mosaicism. Hum Genet 95:293\u2013298","journal-title":"Hum Genet"},{"key":"BF02267058_CR25","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/pd.1970150110","volume":"15","author":"D Opstal van","year":"1995","unstructured":"Opstal D van, Van den Berghe C, Jahoda MGJ, Brandenburg H, Los FJ, In't Veld PA (1995) Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations. Prenat Diagn 15:51\u201355","journal-title":"Prenat Diagn"},{"key":"BF02267058_CR26","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0888-7543(91)90501-5","volume":"10","author":"PJ Scambler","year":"1991","unstructured":"Scambler PJ, Carey AH, Wise RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome: Genomics 10:201\u2013206","journal-title":"Genomics"},{"key":"BF02267058_CR27","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/0140-6736(90)93446-V","volume":"II","author":"EI Schwartz","year":"1990","unstructured":"Schwartz EI, Khalchitsky SE, Eisensmith RC, Woo SLC (1990) Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet II:639\u2013640","journal-title":"Lancet"},{"key":"BF02267058_CR28","first-page":"1451","volume":"II","author":"PV Son","year":"1990","unstructured":"Son PV, Carey WF, Morris CP (1990) Gene amplification directly from Guthrie blood spots. Lancet II:1451\u20131452","journal-title":"Lancet"},{"key":"BF02267058_CR29","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.85.4.526","volume":"85","author":"CA Stevens","year":"1990","unstructured":"Stevens CA, Carey JC, Shigeoka AO (1990) DiGeorge anomaly and velo-cardio-facial syndrome. Pediatrics 85:526\u2013530","journal-title":"Pediatrics"},{"key":"BF02267058_CR30","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0165-4608(92)90258-A","volume":"62","author":"M Tiainen","year":"1992","unstructured":"Tiainen M, Hopman AHN, Moesker O, Ramaekers F, Wessman M, Laasonen A, Pyrhonen S, Tammilehto L, Mattson K, Knuutila S (1992) Interphase cytogenetics of malignant pleural mesothelioma. Cancer Genet Cytogenet 62:171\u2013179","journal-title":"Cancer Genet Cytogenet"},{"key":"BF02267058_CR31","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/0006-291X(91)90502-X","volume":"174","author":"F Weizsacker","year":"1991","unstructured":"Weizsacker F, Labeit S, Koch HK, Oehlert W, Gerok W, Blum HE (1991) A simple and rapid method for the detection of RNA in formalin-fixed, paraffin-embedded tissues by PCR amplification. Biochem Biophys Res Commun 174:176\u2013180","journal-title":"Biochem Biophys Res Commun"},{"key":"BF02267058_CR32","first-page":"957","volume":"51","author":"DI Wilson","year":"1992","unstructured":"Wilson DI, Cross I, Goodship JA, Scambler PJ, Taylor JFN, Walsh K, Burn J (1992a). Prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet 51:957\u2013963","journal-title":"Am J Hum Genet"},{"key":"BF02267058_CR33","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1136\/hrt.66.4.308","volume":"66","author":"DI Wilson","year":"1992","unstructured":"Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J (1992b) DiGeorge syndrome: isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Cr Heart J 66:308\u2013312","journal-title":"Cr Heart J"},{"key":"BF02267058_CR34","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","volume":"30","author":"DI Wilson","year":"1993","unstructured":"Wilson DI, Burn J, Scambler PJ, Goodship J (1993) Syndrome of the month: DiGeorge syndrome, part of CATCH 22. J Med Genet 30:852\u2013856","journal-title":"J Med Genet"},{"key":"BF02267058_CR35","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/gcc.2870060105","volume":"6","author":"SR Wolman","year":"1993","unstructured":"Wolman SR, Waldman FM, Balazs M (1993) Complementarity of interphase and metaphase chromosome analysis in human renal tumors. Genes Chromsom Cancer 6:17\u201323","journal-title":"Genes Chromsom Cancer"},{"key":"BF02267058_CR36","doi-asserted-by":"crossref","first-page":"4294","DOI":"10.1093\/nar\/19.15.4294","volume":"19","author":"EPH Yap","year":"1991","unstructured":"Yap EPH, McGee JO (1991) Slide PCR. DNA amplification from cell samples on microscopic glass slides. Nucleic Acids Res 19:4294","journal-title":"Nucleic Acids Res"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02267058.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02267058\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02267058","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T15:38:26Z","timestamp":1706801906000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02267058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,4]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1996,4]]}},"alternative-id":["BF02267058"],"URL":"https:\/\/doi.org\/10.1007\/bf02267058","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,4]]}}}