{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T10:26:01Z","timestamp":1789381561243,"version":"build-2803163510"},"reference-count":125,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T00:00:00Z","timestamp":1112313600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Seminars in Perinatology"],"published-print":{"date-parts":[[2005,4]]},"DOI":"10.1053\/j.semperi.2005.04.003","type":"journal-article","created":{"date-parts":[[2005,6,19]],"date-time":"2005-06-19T11:07:35Z","timestamp":1119179255000},"page":"77-85","source":"Crossref","is-referenced-by-count":43,"title":["The Genetics of Congenital Diaphragmatic Hernia"],"prefix":"10.1053","volume":"29","author":[{"given":"Anne M.","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.semperi.2005.04.003_bib1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1002\/tera.1420460605","article-title":"A population-based study of congenital diaphragmatic hernia","volume":"46","author":"Torfs","year":"1992","journal-title":"Teratology"},{"key":"10.1053\/j.semperi.2005.04.003_bib2","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<215::AID-AJMG13>3.0.CO;2-K","article-title":"Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies","volume":"79","author":"Enns","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib3","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/cne.10503","article-title":"Embryological origins and development of the rat diaphragm","volume":"455","author":"Babiuk","year":"2003","journal-title":"J Comp Neurol"},{"key":"10.1053\/j.semperi.2005.04.003_bib4","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1053\/jpsu.2000.8725","article-title":"Congenital diaphragmatic hernia","volume":"35","author":"Skari","year":"2000","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib5","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1007\/s00383-004-1138-2","article-title":"Congenital diaphragmatic hernia","volume":"20","author":"Bedoyan","year":"2004","journal-title":"Pediatr Surg Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib6","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1067\/mpd.2002.125004","article-title":"Influence of congenital heart disease on survival in children with congenital diaphragmatic hernia","volume":"141","author":"Cohen","year":"2002","journal-title":"J Pediatr"},{"key":"10.1053\/j.semperi.2005.04.003_bib7","doi-asserted-by":"crossref","first-page":"e71","DOI":"10.1542\/pir.20-10-e71","article-title":"Congenital diaphragmatic hernia","volume":"20","author":"Skarsgard","year":"1999","journal-title":"Pediatr Rev"},{"key":"10.1053\/j.semperi.2005.04.003_bib8","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S0095-5108(18)30202-1","article-title":"Etiologic and genetic factors in congenital diaphragmatic hernia","volume":"23","author":"Tibboel","year":"1996","journal-title":"Clin Perinatol"},{"key":"10.1053\/j.semperi.2005.04.003_bib9","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ajmg.1320170210","article-title":"Familial congenital diaphragmatic defects","volume":"17","author":"Norio","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib10","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/ajmg.1320500316","article-title":"Autosomal recessive congenital diaphragmatic defects in the Arabs","volume":"50","author":"Farag","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib11","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1136\/jmg.34.7.601","article-title":"Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree","volume":"34","author":"Mitchell","year":"1997","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib12","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1016\/S0022-3468(89)80582-2","article-title":"Familial congenital diaphragmatic hernia is an autosomal recessive variant","volume":"24","author":"Hitch","year":"1989","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib13","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/s003830050513","article-title":"Familial bilateral congenital diaphragmatic hernia","volume":"15","author":"Kufeji","year":"1999","journal-title":"Pediatr Surg Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib14","first-page":"578","article-title":"Familial congenital diaphragmatic hernia","volume":"36","author":"Austin-Ward","year":"1999","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib15","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1136\/jmg.13.4.253","article-title":"Diaphragmatic hernia in the south-west of England","volume":"13","author":"David","year":"1976","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib16","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1007\/s003839900324","article-title":"Congenital diaphragmatic hernia in identical twins","volume":"16","author":"Tazuke","year":"2000","journal-title":"Pediatr Surg Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib17","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/1096-8628(20000904)94:1<42::AID-AJMG9>3.0.CO;2-6","article-title":"Discordant phenotype in monozygotic twins with Fryns syndrome","volume":"94","author":"Vargas","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib18","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1023\/A:1007395727819","article-title":"The epidemiology of diaphragmatic hernia","volume":"13","author":"Robert","year":"1997","journal-title":"Eur J Epidemiol"},{"key":"10.1053\/j.semperi.2005.04.003_bib19","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H","article-title":"Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome","volume":"79","author":"Neri","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib20","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng0396-241","article-title":"Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome","volume":"12","author":"Pilia","year":"1996","journal-title":"Nat Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib21","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/1096-8628(20010801)102:2<161::AID-AJMG1453>3.0.CO;2-O","article-title":"GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome","volume":"102","author":"Li","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib22","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.1320440203","article-title":"Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome","volume":"44","author":"Gurrieri","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib23","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1002\/ajmg.1320460523","article-title":"Simpson-Golabi-Behmel syndrome","volume":"46","author":"Chen","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib24","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1083\/jcb.146.1.255","article-title":"Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome","volume":"146","author":"Cano-Gauci","year":"2001","journal-title":"J Cell Biol"},{"key":"10.1053\/j.semperi.2005.04.003_bib25","series-title":"WT1 mutation is a cause of congenital diaphragmatic hernia associated with Meacham syndrome","author":"Reardon","year":"2004"},{"key":"10.1053\/j.semperi.2005.04.003_bib26","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/ajmg.1320570120","article-title":"Diaphragmatic hernia in Denys-Drash syndrome","volume":"57","author":"Devriendt","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib27","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1046\/j.1523-1755.2000.00036.x","article-title":"WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis","volume":"57","author":"Denamur","year":"2000","journal-title":"Kidney Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib28","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1016\/0092-8674(93)90515-R","article-title":"WT-1 is required for early kidney development","volume":"74","author":"Kreidberg","year":"1993","journal-title":"Cell"},{"key":"10.1053\/j.semperi.2005.04.003_bib29","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/S0925-4773(98)00188-9","article-title":"YAC transgenic analysis reveals Wilms\u2019 tumour 1 gene activity in the proliferating coelomic epithelium, developing diaphragm and limb","volume":"79","author":"Moore","year":"1998","journal-title":"Mech Dev"},{"key":"10.1053\/j.semperi.2005.04.003_bib30","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/S0022-3468(96)90412-1","article-title":"No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia","volume":"31","author":"Nordernskjold","year":"1996","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib31","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1136\/jmg.31.7.560","article-title":"Beckwith-Wiedemann syndrome","volume":"31","author":"Elliott","year":"1994","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib32","series-title":"Inborn Errors of Development","first-page":"758","article-title":"IGF2, H19, p57KIP2, and LIT1 and the Beckwith-Widedemann syndrome","author":"Debaun","year":"2004"},{"key":"10.1053\/j.semperi.2005.04.003_bib33","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/BF00273006","article-title":"Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases","volume":"67","author":"Turleau","year":"1984","journal-title":"Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib34","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1399-0004.1995.tb04307.x","article-title":"Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes","volume":"47","author":"Verloes","year":"1995","journal-title":"Clin Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib35","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1002\/ajmg.1320290406","article-title":"Expanding the spectrum of the Perlman syndrome","volume":"29","author":"Greenberg","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib36","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U","article-title":"Craniofrontonasal syndrome","volume":"61","author":"Saavedra","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib37","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1097\/00019605-200204000-00019","article-title":"Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome","volume":"11","author":"Brooks","year":"2002","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2005.04.003_bib38","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ajmg.10176","article-title":"Craniofrontonasal syndrome and diaphragmatic hernia","volume":"110","author":"McGaughran","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib39","doi-asserted-by":"crossref","first-page":"8652","DOI":"10.1073\/pnas.0402819101","article-title":"Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome","volume":"101","author":"Twigg","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/j.semperi.2005.04.003_bib40","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1086\/421532","article-title":"Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome","volume":"74","author":"Wieland","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib41","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1002\/ajmg.1320470703","article-title":"de Lange syndrome","volume":"47","author":"Jackson","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib42","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng1364","article-title":"Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B","volume":"36","author":"Krantz","year":"2004","journal-title":"Nat Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib43","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/424698","article-title":"NIPBL mutational analysis in 120 individuals with Cornelia de Lange Syndrome and evaluation of genotype-phenotype correlations","volume":"75","author":"Gillis","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib44","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1097\/00019605-200310000-00014","article-title":"Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia","volume":"12","author":"Day","year":"2003","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2005.04.003_bib45","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/74307","article-title":"Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis","volume":"24","author":"Bulman","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib46","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/ajmg.1320510306","article-title":"Severe spondylocostal dysostosis associated with other congenital anomalies","volume":"51","author":"Martinez-Frias","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib47","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1046\/j.1469-0705.1999.13030213.x","article-title":"Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester","volume":"13","author":"Lam","year":"1999","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1053\/j.semperi.2005.04.003_bib48","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"De Paepe","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib49","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1001\/archpedi.156.11.1081","article-title":"A recurring FBN1 gene mutation in neonatal Marfan syndrome","volume":"156","author":"Jacobs","year":"2002","journal-title":"Arch Pediatr Adolesc Med"},{"key":"10.1053\/j.semperi.2005.04.003_bib50","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00431-003-1330-8","article-title":"Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature","volume":"163","author":"Revencu","year":"2004","journal-title":"Eur J Pediatr"},{"key":"10.1053\/j.semperi.2005.04.003_bib51","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/BF00200911","article-title":"Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype","volume":"87","author":"Bonneau","year":"1991","journal-title":"Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib52","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1007\/s003830050401","article-title":"Diaphragmatic hernia in an 8-year-old with Ehlers-Danlos syndrome","volume":"13","author":"Iglesias","year":"1998","journal-title":"Pediatr Surg Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib53","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1111\/j.1651-2227.2003.tb00578.x","article-title":"A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar","volume":"92","author":"Abdul Wahab","year":"1993","journal-title":"Acta Paediatr"},{"key":"10.1053\/j.semperi.2005.04.003_bib54","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00295591","article-title":"A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities","volume":"50","author":"Fryns","year":"1979","journal-title":"Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib55","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/ajmg.a.20381","article-title":"Fryns syndrome","volume":"124A","author":"Slavotinek","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib56","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/ajmg.10438","article-title":"Bilateral congenital diaphragmatic hernia","volume":"111","author":"Veldman","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib57","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/ajmg.10262","article-title":"PAGOD syndrome","volume":"108","author":"Macayran","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib58","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/00019605-200201000-00005","article-title":"Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations","volume":"11","author":"Killeen","year":"2002","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2005.04.003_bib59","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1136\/jmg.37.4.315","article-title":"Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes","volume":"37","author":"Manouvrier-Hanu","year":"2000","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib60","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/ajmg.1320470518","article-title":"Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness","volume":"47","author":"Donnai","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib61","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/ajmg.a.20266","article-title":"Donnai-Barrow syndrome","volume":"121A","author":"Chassaing","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib62","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1136\/jmg.27.6.403","article-title":"Unknown syndrome","volume":"27","author":"Gershoni-Baruch","year":"1990","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib63","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/ajmg.a.20275","article-title":"Gershoni-Baruch syndrome","volume":"122A","author":"Franceschini","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib64","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<6::AID-AJMG2>3.0.CO;2-2","article-title":"Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD)","volume":"86","author":"Berkenstadt","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib65","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00019605-200401000-00013","article-title":"Pulmonary agenesis\/hypoplasia, microphthalmia, and diaphragmatic defects","volume":"13","author":"Priolo","year":"2004","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2005.04.003_bib66","first-page":"840","article-title":"Omphalocele and pericardial effusion","volume":"87","author":"Siles","year":"1996","journal-title":"Obstet Gynecol"},{"key":"10.1053\/j.semperi.2005.04.003_bib67","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/(SICI)1096-9926(199811)58:5<205::AID-TERA7>3.0.CO;2-X","article-title":"Infant with midline thoracoabdominal schisis and limb defects","volume":"58","author":"Pivnick","year":"1998","journal-title":"Teratology"},{"key":"10.1053\/j.semperi.2005.04.003_bib68","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/ajmg.1320150207","article-title":"Hemifacial microsomia and variants","volume":"15","author":"Rollnick","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib69","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1097\/00019605-200401000-00019","article-title":"A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices","volume":"13","author":"Oner","year":"2004","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2005.04.003_bib70","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<164::AID-AJMG19>3.0.CO;2-E","article-title":"Kabuki syndrome and diaphragmatic defects","volume":"91","author":"Donadio","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib71","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/1096-8628(20000911)94:2<170::AID-AJMG10>3.0.CO;2-2","article-title":"Unexpected life-threatening complications in Kabuki syndrome","volume":"94","author":"van Haelst","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib72","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/00019605-199707000-00012","article-title":"Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome","volume":"6","author":"Patel","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2005.04.003_bib73","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<45::AID-AJMG9>3.0.CO;2-O","article-title":"Truncus arteriosus and other lethal internal anomalies in Goltz syndrome","volume":"90","author":"Han","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib74","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.1320360314","article-title":"Familial congenital diaphragmatic defect and associated midline anomalies","volume":"36","author":"Carmi","year":"1990","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib75","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<405::AID-AJMG6>3.0.CO;2-K","article-title":"Blastogenesis dominant 1","volume":"68","author":"de Meeus","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib76","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ajmg.1320270124","article-title":"Congenital eventration of the diaphragm","volume":"27","author":"Moerman","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib77","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/ajh.20130","article-title":"Five Fanconi anemia patients with unusual organ pathologies","volume":"77","author":"Unal","year":"2004","journal-title":"Am J Hematol"},{"key":"10.1053\/j.semperi.2005.04.003_bib78","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1002\/(SICI)1097-0223(199611)16:11<1003::AID-PD995>3.0.CO;2-D","article-title":"Structural chromosome anomalies in congenital diaphragmatic hernia","volume":"16","author":"Howe","year":"1996","journal-title":"Prenatal Diag"},{"key":"10.1053\/j.semperi.2005.04.003_bib79","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ajmg.1564","article-title":"Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia","volume":"103","author":"Witters","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib80","first-page":"75","article-title":"Where to look for the genes related to diaphragmatic hernia?","volume":"14","author":"Lurie","year":"2003","journal-title":"Genet Couns"},{"key":"10.1053\/j.semperi.2005.04.003_bib81","first-page":"181","article-title":"Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22","volume":"11","author":"de Beaufort","year":"2000","journal-title":"Genet Couns"},{"key":"10.1053\/j.semperi.2005.04.003_bib82","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/pd.900","article-title":"Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature","volume":"24","author":"Chen","year":"2004","journal-title":"Prenat Diagn"},{"key":"10.1053\/j.semperi.2005.04.003_bib83","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1034\/j.1399-0004.1998.5440406.x","article-title":"Pallister-Killian syndrome [i(12p)]","volume":"54","author":"Chiesa","year":"1998","journal-title":"Clin Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib84","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF00291674","article-title":"Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia","volume":"78","author":"Youssoufian","year":"1988","journal-title":"Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib85","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/ajmg.a.20189","article-title":"Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization","volume":"120A","author":"Zeng","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib86","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I","article-title":"Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature","volume":"18","author":"Faivre","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.1053\/j.semperi.2005.04.003_bib87","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10024-003-2133-7","article-title":"Congenital diaphragmatic hernia and chromosomal anomalies","volume":"7","author":"Borys","year":"2004","journal-title":"Pediatr Dev Pathol"},{"key":"10.1053\/j.semperi.2005.04.003_bib88","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.a.20464","article-title":"Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?","volume":"126A","author":"Biggio","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib89","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<306::AID-AJMG11>3.0.CO;2-M","article-title":"Multiple congenital anomalies in a fetus with 45,X\/46,r(X)(p11.22q12) mosaicism","volume":"77","author":"Nowaczyk","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib90","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/pd.1970140512","article-title":"Terminal deletion of Xp in a dysmorphic anencephalic fetus","volume":"14","author":"Plaja","year":"1994","journal-title":"Prenat Diag"},{"key":"10.1053\/j.semperi.2005.04.003_bib91","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1136\/jmg.38.6.411","article-title":"Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)","volume":"38","author":"Kayserili","year":"2001","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib92","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1093\/hmg\/9.4.477","article-title":"Functional analysis of AHGAP6, a novel GTPase-activating protein for RhoA","volume":"9","author":"Prakash","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib93","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1136\/jmg.31.8.647","article-title":"Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23))","volume":"31","author":"Wolstenholme","year":"1994","journal-title":"J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib94","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/ajmg.a.20613","article-title":"Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event","volume":"127A","author":"van Dooren","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib95","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1046\/j.1442-200x.1999.01104.x","article-title":"Diaphragmatic hernia in an infant of a diabetic mother","volume":"41","author":"Higuchi","year":"1999","journal-title":"Pediatr Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib96","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/S0095-5108(18)30211-2","article-title":"Animal models in congenital diaphragmatic hernia","volume":"23","author":"Wilcox","year":"1996","journal-title":"Clin Perinatol"},{"key":"10.1053\/j.semperi.2005.04.003_bib97","first-page":"L1159","article-title":"Lung hypoplasia in the nitrofen model of congenital diaphragmatic hernia occurs early in development","volume":"279","author":"Guilbert","year":"2000","journal-title":"Am J Pathol Lung Cell Mol Pathol"},{"key":"10.1053\/j.semperi.2005.04.003_bib98","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1016\/S0022-3468(99)90010-6","article-title":"Cardiovascular malformations in congenital diaphragmatic hernia","volume":"34","author":"Migliazza","year":"1999","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib99","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1016\/0022-3468(95)90407-7","article-title":"Intestinal rotation in experimental congenital diaphragmatic hernia","volume":"30","author":"Baoquan","year":"1995","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib100","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1097\/00000637-200106000-00012","article-title":"Prenatal exposure to nitrofen induces Fryns phenotype in mice","volume":"46","author":"Acosta","year":"2001","journal-title":"Ann Plast Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib101","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1203\/01.PDR.0000062660.12769.E6","article-title":"Etiology of congenital diaphragmatic hernia","volume":"53","author":"Greer","year":"2003","journal-title":"Pediatr Res"},{"key":"10.1053\/j.semperi.2005.04.003_bib102","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s00383-003-1012-7","article-title":"Increased expression of ICAM-1 and VCAM-1 in the lung of nitrofen-induced congenital diaphragmatic hernia in rats","volume":"19","author":"Unemoto","year":"2003","journal-title":"Pediatr Surg Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib103","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.jpedsurg.2004.02.015","article-title":"VEGF expression is downregulated in nitrofen-induced congenital diaphragmatic hernia","volume":"39","author":"Chang","year":"2004","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib104","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.jpedsurg.2004.01.028","article-title":"Pulmonary elastin expression is decreased in the nitrofen-induced rat model of congenital diaphragmatic hernia","volume":"39","author":"Mychaliska","year":"2004","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib105","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/S0022-3468(03)00183-0","article-title":"Gene expression of fibroblast growth factors 10 and 7 is downregulated in the lung of nitrofen-induced diaphragmatic hernia in rats","volume":"38","author":"Teramoto","year":"2003","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib106","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1053\/jpsu.2001.27958","article-title":"Altered gene level expression of thyroid hormone receptors alpha-1 and beta-1 in the lung of nitrofen-induced diaphragmatic hernia","volume":"36","author":"Teramoto","year":"2001","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib107","doi-asserted-by":"crossref","first-page":"2749","DOI":"10.1242\/dev.120.10.2749","article-title":"Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants","volume":"120","author":"Mendelsohn","year":"1994","journal-title":"Development"},{"key":"10.1053\/j.semperi.2005.04.003_bib108","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1242\/dev.120.10.2723","article-title":"Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants","volume":"120","author":"Lohnes","year":"1994","journal-title":"Development"},{"key":"10.1053\/j.semperi.2005.04.003_bib109","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/S0002-9440(10)63861-8","article-title":"Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents","volume":"162","author":"Mey","year":"2003","journal-title":"Am J Pathol"},{"key":"10.1053\/j.semperi.2005.04.003_bib110","doi-asserted-by":"crossref","first-page":"L970","DOI":"10.1152\/ajplung.00403.2003","article-title":"Reductions in the incidence of nitrofen-induced diaphragmatic hernia by vitamin A and retinoic acid","volume":"286","author":"Babiuk","year":"2004","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1053\/j.semperi.2005.04.003_bib111","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s003830050399","article-title":"Retinol status of newborn infants with congenital diaphragmatic hernia","volume":"13","author":"Major","year":"1998","journal-title":"Pediatr Surg Int"},{"key":"10.1053\/j.semperi.2005.04.003_bib112","doi-asserted-by":"crossref","first-page":"5217","DOI":"10.1073\/pnas.0730709100","article-title":"A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3","volume":"100","author":"Yuan","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/j.semperi.2005.04.003_bib113","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/S0925-4773(03)00161-8","article-title":"Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice","volume":"120","author":"Liu","year":"2003","journal-title":"Mech Dev"},{"key":"10.1053\/j.semperi.2005.04.003_bib114","doi-asserted-by":"crossref","first-page":"15062","DOI":"10.1073\/pnas.251407098","article-title":"Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1\/Robo1 gene","volume":"98","author":"Xian","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/j.semperi.2005.04.003_bib115","doi-asserted-by":"crossref","first-page":"4147","DOI":"10.1128\/MCB.22.12.4147-4157.2002","article-title":"Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants","volume":"22","author":"Goshu","year":"2002","journal-title":"Mol Cell Biol"},{"key":"10.1053\/j.semperi.2005.04.003_bib116","doi-asserted-by":"crossref","first-page":"2378","DOI":"10.1126\/science.1078273","article-title":"Control of facial muscle development by MyoR and capsulin","volume":"298","author":"Lu","year":"2002","journal-title":"Science"},{"key":"10.1053\/j.semperi.2005.04.003_bib117","first-page":"315","article-title":"Abnormal diaphragmatic development and pulmonary hypoplasia caused by an ENU-induced hypomorphic mutation of Fog2","volume":"71","author":"Ackerman","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib118","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/77146","article-title":"A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2","volume":"25","author":"Svensson","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib119","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/S0092-8674(00)80885-5","article-title":"FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium","volume":"101","author":"Tevosian","year":"2000","journal-title":"Cell"},{"key":"10.1053\/j.semperi.2005.04.003_bib120","series-title":"Identification of a genetic cause of congenital diaphragmatic defect and pulmonary hypoplasia through characterization on an ENU-induced mutant mouse model","author":"Ackerman","year":"2004"},{"key":"10.1053\/j.semperi.2005.04.003_bib121","doi-asserted-by":"crossref","first-page":"14387","DOI":"10.1074\/jbc.M210144200","article-title":"Lysyl oxidase is required for vascular and diaphragmatic development in mice","volume":"278","author":"Hornstra","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1053\/j.semperi.2005.04.003_bib122","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/j.1475-097X.2004.00552.x","article-title":"Acute effects of nifedipine administration in pulmonary haemodynamics and oxygen delivery during exercise in patients with chronic obstructive pulmonary disease","volume":"24","author":"Kanazawa","year":"2004","journal-title":"Clin Physiol Funct Imaging"},{"key":"10.1053\/j.semperi.2005.04.003_bib123","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.jpedsurg.2003.11.008","article-title":"Genetic polymorphisms of angiotensin system genes in congenital diaphragmatic hernia associated with persistent pulmonary hypertension","volume":"39","author":"Solari","year":"2004","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2005.04.003_bib124","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U","article-title":"Simpson-Golabi-Behmel syndrome","volume":"66","author":"Hughes-Benzie","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2005.04.003_bib125","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1093\/hmg\/9.9.1321","article-title":"Mutational analysis of the GPC3\/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome","volume":"9","author":"Veugelers","year":"2000","journal-title":"Hum Mol Genet"}],"container-title":["Seminars in Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0146000505000273?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0146000505000273?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T02:13:21Z","timestamp":1626056001000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0146000505000273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4]]},"references-count":125,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["S0146000505000273"],"URL":"https:\/\/doi.org\/10.1053\/j.semperi.2005.04.003","relation":{},"ISSN":["0146-0005"],"issn-type":[{"value":"0146-0005","type":"print"}],"subject":[],"published":{"date-parts":[[2005,4]]}}}