{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T01:04:20Z","timestamp":1777338260653,"version":"3.51.4"},"reference-count":86,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1997,1,1]],"date-time":"1997-01-01T00:00:00Z","timestamp":852076800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1997,1]]},"DOI":"10.1038\/ng0197-21","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:19:56Z","timestamp":1092860396000},"page":"21-29","source":"Crossref","is-referenced-by-count":768,"title":["Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family"],"prefix":"10.1038","volume":"15","author":[{"given":"Quan","family":"Yi Li","sequence":"first","affiliation":[]},{"given":"Ruth A.","family":"Newbury-Ecob","sequence":"additional","affiliation":[]},{"given":"Jonathan A.","family":"Terrett","sequence":"additional","affiliation":[]},{"given":"David I.","family":"Wilson","sequence":"additional","affiliation":[]},{"given":"Andrew R.J.","family":"Curtis","sequence":"additional","affiliation":[]},{"given":"Cheong","family":"Ho Yi","sequence":"additional","affiliation":[]},{"given":"Tom","family":"Gebuhr","sequence":"additional","affiliation":[]},{"given":"Philip J.","family":"Bullen","sequence":"additional","affiliation":[]},{"given":"Stephen C.","family":"Robson","sequence":"additional","affiliation":[]},{"given":"Tom","family":"Strachan","sequence":"additional","affiliation":[]},{"given":"Damien","family":"Bonnet","sequence":"additional","affiliation":[]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[]},{"given":"Ian D.","family":"Young","sequence":"additional","affiliation":[]},{"given":"J. Alexander","family":"Raeburn","sequence":"additional","affiliation":[]},{"given":"Alan J.","family":"Buckler","sequence":"additional","affiliation":[]},{"given":"David J.","family":"Law","sequence":"additional","affiliation":[]},{"given":"J. David","family":"Brook","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BFng019721_CR1","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0295-165","volume":"9","author":"AOM Wilkie","year":"1995","unstructured":"Wilkie, A.O.M. et al. Apert syndrome results from localized mutations of FGF2 and is allelic with Crouzon syndrome. Nature Genet. 9, 165\u2013172 (1995).","journal-title":"Nature Genet."},{"key":"BFng019721_CR2","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1038\/ng0994-98","volume":"8","author":"W Reardon","year":"1994","unstructured":"Reardon, W. et al. Mutations in the fibroblast growth-factor receptor-2 gene cause Crouzon syndrome. Nature Genet. 8, 95\u201397 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR3","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1038\/ng1096-174","volume":"14","author":"GA Bellus","year":"1996","unstructured":"Bellus, G.A. et al. Identical mutations in three different fibroblast growth factor genes in autosomal dominant craniosynostosis syndrome. Nature Genet. 14, 174\u2013176, (1996).","journal-title":"Nature Genet."},{"key":"BFng019721_CR4","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng0296-130","volume":"12","author":"J Dixon","year":"1996","unstructured":"Dixon, J. et al. Positional cloning of a gene involved in the pathogenesis of Treacher-Collins syndrome. Nature Genet. 12, 130\u2013136 (1996).","journal-title":"Nature Genet."},{"key":"BFng019721_CR5","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/ng1196-353","volume":"14","author":"E Belloni","year":"1996","unstructured":"Belloni, E. et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet. 14, 353\u2013360 (1996).","journal-title":"Nature Genet."},{"key":"BFng019721_CR6","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ng1196-357","volume":"14","author":"E Roessler","year":"1996","unstructured":"Roessler, E. et al. Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nature Genet. 14, 357\u2013360 (1996).","journal-title":"Nature Genet."},{"key":"BFng019721_CR7","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1038\/355635a0","volume":"355","author":"M Tassabehji","year":"1992","unstructured":"Tassabehji, M. et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635\u2013636 (1992).","journal-title":"Nature"},{"key":"BFng019721_CR8","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/355637a0","volume":"355","author":"CT Baldwin","year":"1992","unstructured":"Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. & Milunsky, A. An exonic mutation in the HuP2paired domain gene causes Waardenburg's syndrome. Nature 355, 637\u2013638 (1992).","journal-title":"Nature"},{"key":"BFng019721_CR9","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1016\/0092-8674(91)90284-6","volume":"67","author":"CCT Ton","year":"1991","unstructured":"Ton, C.C.T. et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 67, 1059\u20131074 (1991).","journal-title":"Cell"},{"key":"BFng019721_CR10","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1126\/science.272.5261.548","volume":"272","author":"Y Muragaki","year":"1996","unstructured":"Muragaki, Y., Mundlos, S., Upton, J. & Olsen, B.R. Altered growth and branching pattern in synpolydactyly caused by mutations in HoxD13. Science 272, 548\u2013550 (1996).","journal-title":"Science"},{"key":"BFng019721_CR11","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/0092-8674(95)90287-2","volume":"80","author":"RJ Gibbons","year":"1995","unstructured":"Gibbons, R.J., Picketts, D.J., Villard, L. & Higgs, D.R. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with a-thalassemia (ATR-X syndrome). Cell 80, 837\u2013846 (1995).","journal-title":"Cell"},{"key":"BFng019721_CR12","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1016\/0092-8674(94)90552-5","volume":"79","author":"NG Pasteris","year":"1994","unstructured":"Pasteris, N.G. et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene : a putative Rho\/Rac guanine nucleotide exchange factor. Cell. 79, 669\u2013678 (1994).","journal-title":"Cell."},{"key":"BFng019721_CR13","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/372525a0","volume":"372","author":"JW Foster","year":"1994","unstructured":"Foster, J.W. et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372, 525\u2013530 (1994).","journal-title":"Nature"},{"key":"BFng019721_CR14","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/352539a0","volume":"352","author":"A Vortkamp","year":"1991","unstructured":"Vortkamp, A., Gessler, M. & Grezschik, K.H. Gli3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539\u2013540 (1991).","journal-title":"Nature"},{"key":"BFng019721_CR15","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1126\/science.7939707","volume":"266","author":"L Wolpert","year":"1994","unstructured":"Wolpert, L. Do we understand development? Science 266, 571\u2013572 (1994).","journal-title":"Science"},{"key":"BFng019721_CR16","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/0959-437X(94)90069-F","volume":"4","author":"RL Johnson","year":"1994","unstructured":"Johnson, R.L., Riddle, R.D. & Tabin, C. Mechanisms of limb patterning. Curr. Opin. Genet. Dev. 4, 535\u2013542 (1994).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFng019721_CR17","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1016\/0168-9525(96)10030-5","volume":"12","author":"MJ Cohn","year":"1996","unstructured":"Cohn, M.J. & Tickle, C .Limbs: a model for pattern formation within the vertebrate body plan. Trends Genet. 12, 253\u2013257 (1996).","journal-title":"Trends Genet."},{"key":"BFng019721_CR18","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1016\/0959-437X(95)90052-I","volume":"5","author":"C Tickle","year":"1995","unstructured":"Tickle, C. Vertebrate limb development. Curr. Opin. Genet. Dev. 5, 478\u2013484 (1995).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFng019721_CR19","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/0092-8674(95)90343-7","volume":"80","author":"C Tabin","year":"1995","unstructured":"Tabin, C. The initiation of the limb bud: growth factors, Hox genes and retinoids. Cell 80, 671\u2013674 (1995).","journal-title":"Cell"},{"key":"BFng019721_CR20","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1126\/science.272.5262.671","volume":"272","author":"EN Olsen","year":"1996","unstructured":"Olsen, E.N. & Srivastava, D. Molecular pathways controlling heart development. Science 272, 671\u2013676 (1996).","journal-title":"Science"},{"key":"BFng019721_CR21","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/S0959-437X(96)80009-8","volume":"6","author":"J Burn","year":"1996","unstructured":"Burn, J. & Goodship, J. Developmental genetics of the heart. Curr. Opin. Genet. Dev. 6, 322\u2013326 (1996).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFng019721_CR22","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/S0959-437X(96)80067-0","volume":"6","author":"GE Lyons","year":"1996","unstructured":"Lyons, G.E. Vertebrate heart development. Curr. Opin. Genet. Dev. 6, 454\u2013460(1996).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFng019721_CR23","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1136\/hrt.22.2.236","volume":"22","author":"M Holt","year":"1960","unstructured":"Holt, M. & Oram, S. Familial heart disease with skeletal malformations. Br. Heart J. 22, 236\u2013242 (1960).","journal-title":"Br. Heart J."},{"key":"BFng019721_CR24","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1136\/jmg.28.6.406","volume":"28","author":"JA Hurst","year":"1991","unstructured":"Hurst, J.A., Hall, C.M. & Baraitser, M., The Holt-Oram syndrome. J. Med. Genet. 28, 406\u2013410 (1991).","journal-title":"J. Med. Genet."},{"key":"BFng019721_CR25","first-page":"241","volume":"14","author":"S Temtamy","year":"1978","unstructured":"Temtamy, S. & McKusick, V. The genetics of hand malformations. Birth Defects 14, 241\u2013244 (1978).","journal-title":"Birth Defects"},{"key":"BFng019721_CR26","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1399-0004.1990.tb03556.x","volume":"38","author":"MC Silengo","year":"1990","unstructured":"Silengo, M.C., Biagioli, M., Guala, A., Lopez-Bell, G. & Lala, R. Heart-hand syndrome II: a report of Tabatznik syndrome with new findings. Clin. Genet. 38, 105\u2013113 (1990).","journal-title":"Clin. Genet."},{"key":"BFng019721_CR27","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/BF00329125","volume":"55","author":"S Ruiz de la Fuente","year":"1980","unstructured":"Ruiz de la Fuente, S. & Prieto, F. Heart-hand syndrome III: a new syndrome in three generations. Hum. Genet. 55, 43\u201347 (1980).","journal-title":"Hum. Genet."},{"key":"BFng019721_CR28","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1136\/jmg.33.4.300","volume":"33","author":"R Newbury-Ecob","year":"1996","unstructured":"Newbury-Ecob, R., Leanage, R., Raeburn, J.A. & Young, I.D., The Holt-Oram syndrome: a clinical genetic study. J. Med. Genet. 33, 300\u2013307 (1996).","journal-title":"J. Med. Genet."},{"key":"BFng019721_CR29","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1038\/ng0494-401","volume":"6","author":"JA Terrett","year":"1994","unstructured":"Terrett, J.A. et al. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nature Genet. 6, 401\u2013404 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR30","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/ng0494-405","volume":"6","author":"D Bonnet","year":"1994","unstructured":"Bonnet, D. et al. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nature Genet. 6, 405\u2013408 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR31","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1056\/NEJM199403313301302","volume":"330","author":"CT Basson","year":"1994","unstructured":"Basson, C.T. et al. The clinical and genetic spectrum of the Holt-Oram syndrome(heart-hand syndrome I). New Engl. J. Med. 330, 885\u2013891 (1994).","journal-title":"New Engl. J. Med."},{"key":"BFng019721_CR32","first-page":"1337","volume":"59","author":"JA Terrett","year":"1996","unstructured":"Terrett, J.A. et al. A translocation at 12q2 refines the interval containing theHolt-Oram syndrome 1 gene. Am. J. Hum. Genet. 59, 1337\u20131342 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng019721_CR33","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1159\/000133595","volume":"64","author":"A Swaroop","year":"1993","unstructured":"Swaroop, A. & Xu, J. cDNA libraries from human tissues and cell lines. Cytogenet. Cell Genet. 64, 292\u2013294 (1993).","journal-title":"Cytogenet. Cell Genet."},{"key":"BFng019721_CR34","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1083\/jcb.115.4.887","volume":"115","author":"M Kozak","year":"1991","unstructured":"Kozak, M. An analysis of vertebrate mRNA sequences: intimations of translational control. J. Cell Biol. 115, 887\u2013903 (1991).","journal-title":"J. Cell Biol."},{"key":"BFng019721_CR35","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/0168-9525(90)90106-G","volume":"6","author":"K Willison","year":"1990","unstructured":"Willison, K. The mouse Brachyury and mesoderm formation. Trends Genet. 6, 104\u2013105 (1990).","journal-title":"Trends Genet."},{"key":"BFng019721_CR36","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/0168-9525(90)90011-T","volume":"10","author":"BG Herrmann","year":"1994","unstructured":"Herrmann, B.G. & Kispert, A. The T genes in embryogenesis. Trends Genet. 10, 280\u2013286 (1994).","journal-title":"Trends Genet."},{"key":"BFng019721_CR37","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1038\/343617a0","volume":"343","author":"BC Herrmann","year":"1990","unstructured":"Herrmann, B.C., Labeit, S., Poustka, A., King, T.R. & Lehrach, H. Cloning of the T gene required in mesoderm formation in the mouse. Nature 343, 617\u2013622 (1990).","journal-title":"Nature"},{"key":"BFng019721_CR38","doi-asserted-by":"publisher","first-page":"4763","DOI":"10.1002\/j.1460-2075.1995.tb00158.x","volume":"14","author":"A Kispert","year":"1995","unstructured":"Kispert, A., Koschorz, B. & Herrman, B.G. The T protein encoded by Brachyury is a tissue-specific transcription factor. EMBO J. 14, 4763\u20134772 (1995).","journal-title":"EMBO J."},{"key":"BFng019721_CR39","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1101\/gr.6.3.226","volume":"6","author":"YH Edwards","year":"1996","unstructured":"Edwards, Y.H. et al. The human homologueTof the mouse T(Brachyury) gene: gene structure, cDNA sequence and assignment to chromosome 6q27. Genome Res. 6, 226\u2013233 (1996).","journal-title":"Genome Res."},{"key":"BFng019721_CR40","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/0092-8674(91)90573-H","volume":"67","author":"JC Smith","year":"1991","unstructured":"Smith, J.C., Price, B.M.J., Green, J.B.A., Weigel, D. & Herrmann, B.G. Expression of a Xenopus homolog of Brachyury (T) is an immediate-early response to mesoderm induction. Cell 67, 79\u201387 (1991).","journal-title":"Cell"},{"key":"BFng019721_CR41","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/S0092-8674(05)80087-X","volume":"75","author":"ME Halpern","year":"1993","unstructured":"Halpern, M.E., Ho, R.K., Walker, C. & Kimmel, C.B. Induction of muscle pioneers and floor plate is distinguished by the zebrafish no tail mutation. Cell 75, 99\u2013111 (1993).","journal-title":"Cell"},{"key":"BFng019721_CR42","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1242\/dev.120.4.1009","volume":"120","author":"S Schulte-Merker","year":"1995","unstructured":"Schulte-Merker, S., van Eeden, F.J.M., Halpern, M.E, & N\u0178sslein-Volhard, C no tail(ntl) is the zebrafish homolog of the mouse T (Brachyury) gene. Development 120, 1009\u20131015 (1995).","journal-title":"Development"},{"key":"BFng019721_CR43","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1073\/pnas.89.4.1199","volume":"89","author":"GO Pflugfelder","year":"1992","unstructured":"Pflugfelder, G.O. et al. The lethal(l)optomotor-blind gene locus in Drosophila melanogaster is a major orgnaizer of optic lobe development : isolation and characterization of the gene. Proc. Natl. Acad. Sci. USA. 89, 1199\u20131203 (1992).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng019721_CR44","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/genetics\/126.1.91","volume":"126","author":"GO Pflugfelder","year":"1990","unstructured":"Pflugfelder, G.O. et al. Genetic and molecular characterization of the optomotor-blind gene locus in Drosophila melanogaster . Genetics 126, 91\u2013104 (1990).","journal-title":"Genetics"},{"key":"BFng019721_CR45","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1016\/0006-291X(92)90833-7","volume":"186","author":"GO Pflugfelder","year":"1992","unstructured":"Pflugfelder, G.O., Roth, H. & Poeck, B. A homology domain shared between Drosophila optomotor-blind and mouse Brachyury is involved in DNA binding. Biochem. Biophy. Res. Com. 186, 918\u2013925 (1992).","journal-title":"Biochem. Biophy. Res. Com."},{"key":"BFng019721_CR46","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/ng0794-383","volume":"7","author":"RJ Bollag","year":"1994","unstructured":"Bollag, R.J. et al. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genet. 7, 383\u2013389 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR47","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1016\/0888-7543(95)80128-9","volume":"25","author":"SI Agulnik","year":"1995","unstructured":"Agulnik, S.I., Bollag, R.J. & Silver, L.M. Conservation of the T-box gene family from Mus musculus to Caenorhaditis elegans . Genomics 25, 214\u2013219 (1995).","journal-title":"Genomics"},{"key":"BFng019721_CR48","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/genetics\/144.1.249","volume":"144","author":"SI Agulnik","year":"1996","unstructured":"Agulnik, S.I. et al. Evolution of mouse T-box genes by tandem duplication and cluster dispersion. Genetics 144, 249\u2013254 (1996).","journal-title":"Genetics"},{"key":"BFng019721_CR49","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/0925-4773(96)00514-X","volume":"56","author":"JJ Gibson-Brown","year":"1996","unstructured":"Gibson-Brown, J.J. et al. Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb\/hindlimb identity. Mech. Dev. 56, 93\u2013101 (1996).","journal-title":"Mech. Dev."},{"key":"BFng019721_CR50","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1093\/hmg\/5.5.669","volume":"5","author":"K Morrison","year":"1996","unstructured":"Morrison, K. et al. Genetic mapping of the human homologue(T) of mouse T(Brachyury) and a search for allele association between human T and spina bif ida. Hum. Mol. Genet. 5, 669\u2013674 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFng019721_CR51","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/0896-6273(95)90065-9","volume":"15","author":"A Bulfone","year":"1995","unstructured":"Bulfone, A. et al. T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral-cortex. Neuron. 15, 63\u201378(1995).","journal-title":"Neuron."},{"key":"BFng019721_CR52","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1006\/geno.1995.1139","volume":"28","author":"C Campbell","year":"1995","unstructured":"Campbell, C., Goodrich, K., Casey, G. & Beatty, B. Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. Genomics 28, 255\u2013260 (1995).","journal-title":"Genomics"},{"key":"BFng019721_CR53","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1007\/BF00539006","volume":"6","author":"DJ Law","year":"1995","unstructured":"Law, D.J., Gebuhr, T., Garvey, N., Agulnik, S.I. & Silver, L.M., Identification, characterization, and localization to chromosome 17q21\u201322 of the human TBX-2 homolog, member of a conserved developmental gene family. Mamm. Genome 6, 793\u2013797 (1995).","journal-title":"Mamm. Genome"},{"key":"BFng019721_CR54","doi-asserted-by":"publisher","first-page":"3211","DOI":"10.1002\/j.1460-2075.1993.tb05990.x","volume":"12","author":"A Kispert","year":"1993","unstructured":"Kispert, A. & Herrman, B.G., The Brachyury gene encodes a novel DNA binding protein. EMBO Journal 12, 3211\u20133220 (1993).","journal-title":"EMBO Journal"},{"key":"BFng019721_CR55","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/ng0696-230","volume":"13","author":"P S\u00fcdbeck","year":"1996","unstructured":"S\u00fcdbeck, P., Schmitz, M.L., Baeuerle, P.A. & Scherer, G. Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nature Genet. 13, 230\u2013232 (1996).","journal-title":"Nature Genet."},{"key":"BFng019721_CR56","unstructured":"Larsen, W.J. Human Embryology, 479 (Churchill Livingstone, New York, 1993)."},{"key":"BFng019721_CR57","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/(SICI)1097-0177(199608)206:4<379::AID-AJA4>3.0.CO;2-F","volume":"206","author":"DL Chapman","year":"1996","unstructured":"Chapman, D.L. et al. Expression of the T-box family genes, TbxI-TbxS, during early mouse development. Dev. Dyn. 206, 379\u2013390 (1996).","journal-title":"Dev. Dyn."},{"key":"BFng019721_CR58","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1242\/dev.120.1.209","volume":"120","author":"PH Francis","year":"1994","unstructured":"Francis, P.H., Richardson, M.K., Brickell, P.M. & Tickle, C. Bone morphogenetic proteins and a signalling pathway that controls patterning in the developing limb bud. Development 120, 209\u2013218 (1994).","journal-title":"Development"},{"key":"BFng019721_CR59","doi-asserted-by":"publisher","first-page":"2105","DOI":"10.1101\/gad.9.17.2105","volume":"9","author":"G Winnier","year":"1995","unstructured":"Winnier, G., Blessing, M., Labosky, P.A. & Hogan, B.L.M. Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. Genes Dev. 9, 2105\u20132116 (1995).","journal-title":"Genes Dev."},{"key":"BFng019721_CR60","doi-asserted-by":"publisher","first-page":"1601","DOI":"10.1126\/science.271.5255.1601","volume":"271","author":"S Grimm","year":"1996","unstructured":"Grimm, S. & Pflugfelder, G.O. Control of the optomotor -blind in Drosophila wing development by decapentaplegic and wingless. Science 271, 1601\u20131604 (1996).","journal-title":"Science"},{"key":"BFng019721_CR61","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ng1294-357","volume":"8","author":"CR Jamieson","year":"1994","unstructured":"Jamieson, C.R. et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nature Genet. 8, 357\u2013360 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR62","doi-asserted-by":"publisher","first-page":"1973","DOI":"10.1093\/hmg\/4.10.1973","volume":"4","author":"M Bamshad","year":"1995","unstructured":"Bamshad, M. et al. A gene for ulnar-mammary syndrome maps to 12q23\u201324.1. Hum. Mol. Genet 4, 1973\u20131977 (1995).","journal-title":"Hum. Mol. Genet"},{"key":"BFng019721_CR63","first-page":"865","volume-title":"infancy and childhood, in Heart Disease: A Textbook of Cardiovascular Medicine Vol. 2","author":"WF Friedman","year":"1992","unstructured":"Friedman, W.F. Congenital heart diseases. in infancy and childhood, in Heart Disease: A Textbook of Cardiovascular Medicine Vol. 2 (ed. Braunwald, E.) 865\u2013887 WB Saunders, Philadelphia, (1992)."},{"key":"BFng019721_CR64","first-page":"1622","volume-title":"Heart Disease: A Textbook of Cardiovascular Medicine Vol. 2","author":"RE Pyeritz","year":"1992","unstructured":"Pyeritz, R.E. Genetics and cardiovascular disease. in Heart Disease: A Textbook of Cardiovascular Medicine Vol. 2 (ed. Braunwald, E.) 1622\u20131655 WB Saunders, Philadelphia. (1992)."},{"key":"BFng019721_CR65","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1038\/366698a0","volume":"366","author":"D Cohen","year":"1993","unstructured":"Cohen, D., Chumakov, I. & Wessenbach, J. A 1st-generation physical map of the human genome. Nature 366, 698\u2013701 (1993).","journal-title":"Nature"},{"key":"BFng019721_CR66","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1038\/ng0194-84","volume":"6","author":"PA loannou","year":"1994","unstructured":"loannou, P.A. et al. A new bacteriophage P1-derived vector for the propagation of large human DMA fragments. Nature Genet. 6, 84\u201389 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR67","unstructured":"Stottler, C.J. et al. Transcription and physical mapping of human chromosome 12. Am. J. Hum. Genet 57 Suppl. A56 (1995)."},{"key":"BFng019721_CR68","volume-title":"Molecular cloning: A laboratory manual","author":"J Sambrook","year":"1989","unstructured":"Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular cloning: A laboratory manual, (Cold Spring Harbor Laboratory Press, New York, 1989)."},{"key":"BFng019721_CR69","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/0076-6879(91)94004-V","volume":"194","author":"F Sherman","year":"1991","unstructured":"Sherman, F. Getting started with yeast. Methods Enzymol. 194, 3\u201321 (1991).","journal-title":"Methods Enzymol."},{"key":"BFng019721_CR70","first-page":"225","volume":"18","author":"QY Li","year":"1988","unstructured":"Li, Q.Y., Wang, J.S. & Fang, Z.D. Modified method for large scale isolation of Ti plasmid. Chinese J. Plant Path. 18, 225\u2013227 (1988).","journal-title":"Chinese J. Plant Path."},{"key":"BFng019721_CR71","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0694supp-246","volume":"7","author":"G Gyapay","year":"1994","unstructured":"Gyapay, G. et al. The 1993-1994 G\u00e9n\u00e9thon human genetic linkage map. Nature Genet. 7, 246\u2013339 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR72","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1093\/hmg\/3.4.599","volume":"3","author":"JAL Armour","year":"1994","unstructured":"Armour, J.A.L., Neumann, R., Gobert, S. & Jeffreys, A.J. Isolation of humansimple repeat loci by hybridization selection. Hum. Mol. Genet. 3, 599\u2013605 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFng019721_CR73","doi-asserted-by":"publisher","first-page":"6686","DOI":"10.1073\/pnas.86.17.6686","volume":"86","author":"DL Nelson","year":"1989","unstructured":"Nelson, D.L. et al. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc. Natl. Acad. Sci. USA 86, 6686\u20136690 (1989).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng019721_CR74","doi-asserted-by":"publisher","first-page":"2887","DOI":"10.1093\/nar\/18.10.2887","volume":"18","author":"J Riley","year":"1990","unstructured":"Riley, J. et al. A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucl. Acids Res. 18, 2887\u20132890 (1990).","journal-title":"Nucl. Acids Res."},{"key":"BFng019721_CR75","unstructured":"Verma, R.S. & Babu, A. Human chromosomes: manual of basic techniques. (Pergamon, New York, 1989)."},{"key":"BFng019721_CR76","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1016\/0888-7543(91)90035-D","volume":"11","author":"MS Driesen","year":"1991","unstructured":"Driesen, M.S. et al. Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell-line by high density screening of an amplified library. Genomics 11, 1079\u20131087 (1991).","journal-title":"Genomics"},{"key":"BFng019721_CR77","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","volume":"132","author":"AP Feinberg","year":"1983","unstructured":"Feinberg, A.P. & Vogelstein, B. A technique for radiolabeling DNA restriction endonuclease fragments to high specificity activity. Anal. Biochem. 132, 6\u201313 (1983).","journal-title":"Anal. Biochem."},{"key":"BFng019721_CR78","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0194-98","volume":"6","author":"DM Church","year":"1994","unstructured":"Church, D.M. et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98\u2013105 (1994).","journal-title":"Nature Genet."},{"key":"BFng019721_CR79","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1006\/geno.1996.0108","volume":"32","author":"QY Li","year":"1996","unstructured":"Li, Q.Y., Lennon, G.G. & Brook, J.D. The identification of exons from theMED\/PSACH region of human chromosome 19. Genomics 32, 218\u2013224 (1996).","journal-title":"Genomics"},{"key":"BFng019721_CR80","doi-asserted-by":"publisher","first-page":"1096","DOI":"10.1016\/S0140-6736(94)90205-4","volume":"343","author":"PW Soothill","year":"1994","unstructured":"Soothill, P.W. & Rodeck, C.H. First-trimester fetal necroscopy after ultrasound guided aspiration. Lancet 343, 1096\u20131097 (1994).","journal-title":"Lancet"},{"key":"BFng019721_CR81","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1056\/NEJM199504133321502","volume":"332","author":"H el-Refaey","year":"1995","unstructured":"el-Refaey, H., Rajasekar, D., Abdalla, M., Calder, L. & Templeton, A. Induction of abortion with mifepristome (RU489) and oral or vaginal misoprostol. NewEngl. J. Med. 332, 983\u2013987 (1995).","journal-title":"NewEngl. J. Med."},{"key":"BFng019721_CR82","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1007\/BF00159117","volume":"25","author":"AFM Moorman","year":"1993","unstructured":"Moorman, A.F.M., de Boor,, P . A.J., Vermeulen,, J.L. & Lamers,, W.H. Practicalaspects of radio-isotopic in situ hybridization on RNA. Histochemical J. 25, 251\u2013266 (1993).","journal-title":"Histochemical J."},{"key":"BFng019721_CR83","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1242\/dev.122.1.321","volume":"122","author":"RGE Notenboom","year":"1996","unstructured":"Notenboom, R.G.E., de Boer,, P . A.J., Moorman,, A.F.M. & Lamers,, W.H. Theestablishment of the hepatic architecture is a prerequisite for the development of a lobular pattern of gene-expression. Development. 122, 321\u2013332 (1996).","journal-title":"Development."},{"key":"BFng019721_CR84","volume-title":"Current Protocols in Human Genetics Vol. 2","author":"W Warren","year":"1995","unstructured":"Warren, W. Detection of mutations by single-strand conformationpolymorphism analysis. in Current Protocols in Human Genetics Vol. 2 (eds Dracopoli, N.C. et al.) 7.4.1\u20137.4.6. John Wiley, New York, (1995)."},{"key":"BFng019721_CR85","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger, F., Nicklen, S. & Coulson, A.R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 74, 5463\u20135467 (1977).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng019721_CR86","first-page":"7.7.1","volume-title":"Current Protocols in Human Genetics Vol. 2","author":"L Thierfelder","year":"1995","unstructured":"Thierfelder, L. Mutations detection by cycle sequencing. in Current Protocols in Human Genetics Vol. 2 (eds Dracopoli, N.C. et al.) 7.7.1\u20137.7.6. (John Wiley, New York, 1995)."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0197-21","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0197-21.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0197-21.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:18:21Z","timestamp":1684441101000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0197-21"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,1]]},"references-count":86,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1997,1]]}},"alternative-id":["BFng019721"],"URL":"https:\/\/doi.org\/10.1038\/ng0197-21","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,1]]}}}