{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:52Z","timestamp":1761718192332},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2011,11,15]],"date-time":"2011-11-15T00:00:00Z","timestamp":1321315200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Surg Int"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1007\/s00383-011-3022-1","type":"journal-article","created":{"date-parts":[[2011,11,14]],"date-time":"2011-11-14T08:02:54Z","timestamp":1321257774000},"page":"335-340","source":"Crossref","is-referenced-by-count":6,"title":["Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients"],"prefix":"10.1007","volume":"28","author":[{"given":"Andrew J.","family":"Murphy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yina","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua B.","family":"Pietsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"Harold N.","family":"Lovvorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,11,15]]},"reference":[{"issue":"7","key":"3022_CR1","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1136\/jmg.2005.038158","volume":"43","author":"C Shaw-Smith","year":"2006","unstructured":"Shaw-Smith C (2006) Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 43(7):545\u2013554. doi:\n                    10.1136\/jmg.2005.038158","journal-title":"J Med Genet"},{"issue":"8","key":"3022_CR2","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/S0011-3840(66)80017-5","volume":"3","author":"TM Holder","year":"1966","unstructured":"Holder TM, Ashcraft KW (1966) Esophageal atresia and tracheoesophageal fistula. Curr Probl Surg 3(8):2\u201368","journal-title":"Curr Probl Surg"},{"issue":"1","key":"3022_CR3","doi-asserted-by":"publisher","first-page":"e11","DOI":"10.1016\/j.jpedsurg.2005.10.087","volume":"41","author":"D Berrebi","year":"2006","unstructured":"Berrebi D, Lebras MN, Belarbi N, Couturier J, Fattet S, Faye A, Peuchmaur M, de Lagausie P (2006) Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi\u2019s anemia and VACTERL syndrome. J Pediatr Surg 41(1):e11\u2013e14. doi:\n                    10.1016\/j.jpedsurg.2005.10.087","journal-title":"J Pediatr Surg"},{"issue":"5","key":"3022_CR4","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/ng1546","volume":"37","author":"H Bokhoven van","year":"2005","unstructured":"van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG (2005) MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 37(5):465\u2013467. doi:\n                    10.1038\/ng1546","journal-title":"Nat Genet"},{"issue":"9","key":"3022_CR5","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1093\/hmg\/ddl064","volume":"15","author":"KA Williamson","year":"2006","unstructured":"Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR (2006) Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 15(9):1413\u20131422. doi:\n                    10.1093\/hmg\/ddl064","journal-title":"Hum Mol Genet"},{"issue":"9","key":"3022_CR6","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1038\/ng1407","volume":"36","author":"LE Vissers","year":"2004","unstructured":"Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9):955\u2013957. doi:\n                    10.1038\/ng1407","journal-title":"Nat Genet"},{"issue":"1","key":"3022_CR7","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1002\/1096-8628(20000904)94:1<64::AID-AJMG13>3.0.CO;2-D","volume":"94","author":"F Ondrey","year":"2000","unstructured":"Ondrey F, Griffith A, Van Waes C, Rudy S, Peters K, McCullagh L, Biesecker LG (2000) Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. Am J Med Genet 94(1):64\u201367. doi:\n                    10.1002\/1096-8628(20000904)94:1<64","journal-title":"Am J Med Genet"},{"issue":"2","key":"3022_CR8","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1002\/ajmg.a.10265","volume":"120A","author":"F Falco De","year":"2003","unstructured":"De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G (2003) X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A 120A(2):222\u2013228. doi:\n                    10.1002\/ajmg.a.10265","journal-title":"Am J Med Genet A"},{"issue":"3","key":"3022_CR9","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1136\/adc.64.3.364","volume":"64","author":"S Chittmittrapap","year":"1989","unstructured":"Chittmittrapap S, Spitz L, Kiely EM, Brereton RJ (1989) Oesophageal atresia and associated anomalies. Arch Dis Child 64(3):364\u2013368","journal-title":"Arch Dis Child"},{"issue":"6","key":"3022_CR10","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/j.ajhg.2009.05.005","volume":"84","author":"P Stankiewicz","year":"2009","unstructured":"Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O\u2019Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84(6):780\u2013791. doi:\n                    10.1016\/j.ajhg.2009.05.005","journal-title":"Am J Hum Genet"},{"issue":"3","key":"3022_CR11","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1002\/dvdy.21075","volume":"236","author":"Y Li","year":"2007","unstructured":"Li Y, Litingtung Y, Ten Dijke P, Chiang C (2007) Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia. Dev Dyn 236(3):746\u2013754. doi:\n                    10.1002\/dvdy.21075","journal-title":"Dev Dyn"},{"issue":"5","key":"3022_CR12","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1016\/0092-8674(92)90316-5","volume":"70","author":"WC Smith","year":"1992","unstructured":"Smith WC, Harland RM (1992) Expression cloning of noggin, a new dorsalizing factor localized to the Spemann organizer in Xenopus embryos. Cell 70(5):829\u2013840. pii: 0092-8674(92)90316-5","journal-title":"Cell"},{"issue":"3","key":"3022_CR13","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1038\/6821","volume":"21","author":"Y Gong","year":"1999","unstructured":"Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 21(3):302\u2013304. doi:\n                    10.1038\/6821","journal-title":"Nat Genet"},{"issue":"1","key":"3022_CR14","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1086\/301921","volume":"63","author":"D Krakow","year":"1998","unstructured":"Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, Rimoin DL, Cohn DH (1998) Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21\u201322. Am J Hum Genet 63(1):120\u2013124. doi:\n                    10.1086\/301921","journal-title":"Am J Hum Genet"},{"issue":"5368","key":"3022_CR15","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1126\/science.280.5368.1455","volume":"280","author":"LJ Brunet","year":"1998","unstructured":"Brunet LJ, McMahon JA, McMahon AP, Harland RM (1998) Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280(5368):1455\u20131457","journal-title":"Science"},{"issue":"3","key":"3022_CR16","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1086\/342067","volume":"71","author":"DJ Brown","year":"2002","unstructured":"Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM (2002) Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet 71(3):618\u2013624. doi:\n                    10.1086\/342067","journal-title":"Am J Hum Genet"},{"issue":"6","key":"3022_CR17","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1034\/j.1399-0004.2001.600607.x","volume":"60","author":"T Takahashi","year":"2001","unstructured":"Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet 60(6):447\u2013451. pii: 600607","journal-title":"Clin Genet"},{"issue":"5","key":"3022_CR18","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1111\/j.1399-0004.1993.tb03893.x","volume":"44","author":"MM Khalifa","year":"1993","unstructured":"Khalifa MM, MacLeod PM, Duncan AM (1993) Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 44(5):258\u2013261","journal-title":"Clin Genet"},{"issue":"1","key":"3022_CR19","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1111\/j.1399-0004.1992.tb03631.x","volume":"41","author":"JP Park","year":"1992","unstructured":"Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH (1992) A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin Genet 41(1):54\u201356","journal-title":"Clin Genet"},{"issue":"1","key":"3022_CR20","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1111\/j.1399-0004.1993.tb04452.x","volume":"43","author":"B Dallapiccola","year":"1993","unstructured":"Dallapiccola B, Mingarelli R, Digilio C, Obregon MG, Giannotti A (1993) Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome. Clin Genet 43(1):54\u201355","journal-title":"Clin Genet"},{"issue":"9","key":"3022_CR21","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1136\/jmg.37.9.701","volume":"37","author":"AJ Marsh","year":"2000","unstructured":"Marsh AJ, Wellesley D, Burge D, Ashton M, Browne C, Dennis NR, Temple K (2000) Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. J Med Genet 37(9):701\u2013704","journal-title":"J Med Genet"},{"issue":"1","key":"3022_CR22","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1002\/ajmg.1320550110","volume":"55","author":"ML Levin","year":"1995","unstructured":"Levin ML, Shaffer LG, Lewis R, Gresik MV, Lupski JR (1995) Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies. Am J Med Genet 55(1):30\u201332. doi:\n                    10.1002\/ajmg.1320550110","journal-title":"Am J Med Genet"},{"issue":"3","key":"3022_CR23","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<275","volume":"71","author":"EC Mickelson","year":"1997","unstructured":"Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME (1997) Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24). Am J Med Genet 71(3):275\u2013279. doi:\n                    10.1002\/(SICI)1096-8628(19970822)71:3<275","journal-title":"Am J Med Genet"},{"issue":"1","key":"3022_CR24","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ejmg.2008.09.006","volume":"52","author":"H Puusepp","year":"2009","unstructured":"Puusepp H, Zilina O, Teek R, Mannik K, Parkel S, Kruustuk K, Kuuse K, Kurg A, Ounap K (2009) 5.9\u00a0Mb microdeletion in chromosome band 17q22\u2013q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. Eur J Med Genet 52(1):71\u201374. doi:\n                    10.1016\/j.ejmg.2008.09.006","journal-title":"Eur J Med Genet"},{"issue":"10","key":"3022_CR25","doi-asserted-by":"publisher","first-page":"1499","DOI":"10.1002\/1522-2683(200205)23:10<1499::AID-ELPS1499>3.0.CO;2-X","volume":"23","author":"Q Li","year":"2002","unstructured":"Li Q, Liu Z, Monroe H, Culiat CT (2002) Integrated platform for detection of DNA sequence variants using capillary array electrophoresis. Electrophoresis 23(10):1499\u20131511. doi:\n                    10.1002\/1522-2683(200205)23:10<1499","journal-title":"Electrophoresis"},{"key":"3022_CR26","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/978-1-60327-411-1_2","volume":"578","author":"R Hunt","year":"2009","unstructured":"Hunt R, Sauna ZE, Ambudkar SV, Gottesman MM, Kimchi-Sarfaty C (2009) Silent (synonymous) SNPs: should we care about them? Methods Mol Biol 578:23\u201339. doi:\n                    10.1007\/978-1-60327-411-1_2","journal-title":"Methods Mol Biol"},{"issue":"8","key":"3022_CR27","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1002\/humu.21515","volume":"32","author":"TA Potti","year":"2011","unstructured":"Potti TA, Petty EM, Lesperance MM (2011) A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). Hum Mutat 32(8):877\u2013886. doi:\n                    10.1002\/humu.21515","journal-title":"Hum Mutat"},{"issue":"9","key":"3022_CR28","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1002\/bdra.20592","volume":"85","author":"JF Felix","year":"2009","unstructured":"Felix JF, de Jong EM, Torfs CP, de Klein A, Rottier RJ, Tibboel D (2009) Genetic and environmental factors in the etiology of esophageal atresia and\/or tracheoesophageal fistula: an overview of the current concepts. Birth Defects Res A Clin Mol Teratol 85(9):747\u2013754. doi:\n                    10.1002\/bdra.20592","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"issue":"1","key":"3022_CR29","doi-asserted-by":"publisher","first-page":"e26","DOI":"10.1159\/000077595","volume":"97","author":"F Borovecki","year":"2004","unstructured":"Borovecki F, Jelic M, Grgurevic L, Sampath KT, Bosukonda D, Vukicevic S (2004) Bone morphogenetic protein-7 from serum of pregnant mice is available to the fetus through placental transfer during early stages of development. Nephron Exp Nephrol 97(1):e26\u2013e32. doi:\n                    10.1159\/000077595","journal-title":"Nephron Exp Nephrol"}],"container-title":["Pediatric Surgery International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-011-3022-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00383-011-3022-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-011-3022-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-011-3022-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T03:18:02Z","timestamp":1581995882000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00383-011-3022-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,15]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["3022"],"URL":"https:\/\/doi.org\/10.1007\/s00383-011-3022-1","relation":{},"ISSN":["0179-0358","1437-9813"],"issn-type":[{"value":"0179-0358","type":"print"},{"value":"1437-9813","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,15]]}}}