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2.1.8 Literatur

  • Abbott JD, Giordano FJ (2003) Stern cells and cardiovascular disease. J Nucl Cardiol 10:403–412

    Article  PubMed  Google Scholar 

  • Al-Baradie R, Yamada K, St Hilaire C et al (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SALL family. Am J Hum Genet 71:1195–1199

    Article  PubMed  CAS  Google Scholar 

  • Allan LD, Sharland GK, Chita SK, Lockhart S, Maxwell DJ (1991) Chromosomal anomalies in fetal congenital heart disease. Ultrasound Obstet Gynecol 1:8–11

    Article  PubMed  CAS  Google Scholar 

  • Anderson C, Devine WA, Anderson RH, Debich DE, Zuberbuhler JR (1990) Abnormalities of the spieen in relation to congenital malformations of the heart: a survey of necropsy findings in children. Br Heart J 63:122–128

    Article  PubMed  CAS  Google Scholar 

  • Anderson RH, Becker AE, Tynan M, Macartney FJ, Rigby ML, Wilkinson JL (1984) The univentricular atrioventricular connection: getting to the root of a thorny problem. Am J Cardiol 54:822–828

    Article  PubMed  CAS  Google Scholar 

  • Anderson RH, Webb S, Brown NA (1998) Defective lateralization in children with congenitally malformed hearts. Cardiol Young 8:512–538

    PubMed  CAS  Google Scholar 

  • Atkinson DE, Drant S (1998) Diagnosis of heterotaxy syndrome by fetal echocardiography. Am J Cardiol 82:1147–1149

    Article  PubMed  CAS  Google Scholar 

  • Baldini A (2002) DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum Mol Genet 11:2363–2369

    Article  PubMed  CAS  Google Scholar 

  • Bamford RN, Roessler E, Burdine RD et al (2000) Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 26:365–369

    Article  PubMed  CAS  Google Scholar 

  • Baptista MJ, Fairbrother UL, Howard CM et al (2000) Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome? Hum Genet 107:476–482

    Article  PubMed  CAS  Google Scholar 

  • Baralle D, Mattocks C, Kalidas K et al (2003) Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet 119A:1–8

    Article  PubMed  Google Scholar 

  • Barlow GM, Chen XN, Shi ZY et al (2001) Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med 3:91–101

    Article  PubMed  CAS  Google Scholar 

  • Bartoloni L, Blouin JL, Pan Y et al (2002) Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci USA 99:10282–10286

    Article  PubMed  CAS  Google Scholar 

  • Baty BJ, Blackburn BL, Carey JC (1994a) Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175–188

    Article  PubMed  CAS  Google Scholar 

  • Baty BJ, Jorde LB, Blackburn BL, Carey JC (1994b) Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet 49:189–194

    Article  PubMed  CAS  Google Scholar 

  • Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA (2003) Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 73:131–151

    Article  PubMed  CAS  Google Scholar 

  • Beekman RH, Robinow M (1985) Coarctation of the aorta inherited as an autosomal dominant trait. Am J Cardiol 56:818–819

    Article  PubMed  CAS  Google Scholar 

  • Benson DW, Silberbach GM, Kavanaugh-McHugh A et al (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104:1567–1573

    Article  PubMed  CAS  Google Scholar 

  • Berg KA, Clark EB, Astemborski JA, Boughman JA (1988) Prenatal detection of cardiovascular malformations by echocardiography: an indication for cytogenetic evaluation. Am J Obstet Gynecol 159:477–481

    PubMed  CAS  Google Scholar 

  • Brand T (2003) Heart development: molecular insights into cardiac specification and early morphogenesis. Dev Biol 258:1–19

    Article  PubMed  CAS  Google Scholar 

  • Brassington AM, Sung SS, Toydemir RM et al (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet 73:74–85

    Article  PubMed  CAS  Google Scholar 

  • Brice G, Mansour S, Bell R et al (2002) Analysis of the phenotypic abnormalities in lymphedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39:478–483

    Article  PubMed  CAS  Google Scholar 

  • Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH (1995) Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 332:1323–1329

    Article  PubMed  CAS  Google Scholar 

  • Bruneau BG (2003) The developing heart and congenital heart defects: a make or break Situation. Clin Genet 63:252–261

    Article  PubMed  CAS  Google Scholar 

  • Bruneau BG, Nemer G, Schmitt JP et al (2001) A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106:709–721

    Article  PubMed  CAS  Google Scholar 

  • Bucuvalas JC, Horn JA, Carlsson L, Balistreri WF, Chernausek SD (1993) Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. J Clin Endocrinol Metab 76:1477–1482

    Article  PubMed  CAS  Google Scholar 

  • Burgt van der I, Brunner H (2000) Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form. Am J Med Genet 94:46–51

    Article  Google Scholar 

  • Capdevila J, Vögan KJ, Tabin CJ, Izpisua Belmonte JC (2000) Mechanisms of left-right determination in vertebrates. Cell 101:9–21

    Article  PubMed  CAS  Google Scholar 

  • Casey B (1998) Two rights make a wrong: human left-right malformations. Hum Mol Genet 7:1565–1571

    Article  PubMed  CAS  Google Scholar 

  • Casey B, Ballabio A (1995) Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med 333:941; author reply 941–942

    Article  PubMed  CAS  Google Scholar 

  • Casey B, Cuneo BF, Vitali C et al (1996) Autosomal dominant transmission of familial laterality defects. Am J Med Genet 61:325–328

    Article  PubMed  CAS  Google Scholar 

  • Celoria GC, Patton RB (1959) Congenital absence of the aortic arch. Am Heart J 58:407–413

    Article  PubMed  CAS  Google Scholar 

  • Chen WC, Tsai FJ, Wu JY, Wu HC, Li CW (2000) Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome? Zhonghua Yi Xue Za Zhi (Taipei) 63:691–695

    PubMed  CAS  Google Scholar 

  • Cohen E, Chow EW, Weksberg R, Bassett AS (1999) Phenotype of adults with the 22q11.2 deletion syndrome: a review. Am J Med Genet 86:359–365

    Article  PubMed  CAS  Google Scholar 

  • Crispino JD, Lodish MB, Thurberg BL, Litovsky SH, Collins T, Molkentin JD, Orkin SH (2001) Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev 15:839–844

    Article  PubMed  CAS  Google Scholar 

  • Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH (2001) Identification of connexin43 (alphal) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479:173–186

    PubMed  CAS  Google Scholar 

  • Davies GE, Howard CM, Farrer MJ et al (1995) Genetic Variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down’s syndrome). Ann Hum Genet 59:253–269

    Article  PubMed  CAS  Google Scholar 

  • Devriendt K, Matthijs G, Van Dael R et al (1999) Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 64:1119–1126

    Article  PubMed  CAS  Google Scholar 

  • Digilio MC, Marino B, Canepa SA, Borzaga U, Giannotti A, Dallapiccola B (1998) Congenital heart defect in sibs with discordant karyotypes. Am J Med Genet 80:169–172

    Article  PubMed  CAS  Google Scholar 

  • Digilio MC, Conti E, Sarkozy A et al (2002) Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389–394

    Article  PubMed  CAS  Google Scholar 

  • Driscoll DA, Budarf ML, McDermid H, Emanuel BS (1990) Molecular analysis of DiGeorge syndrome: 22q11.2 interstitial deletions. American Journal of Human Genetics 47:A215

    Google Scholar 

  • Dyck JD, Freedom RM (1992) Aortic stenosis. In: Smallhorn JF (ed) Neonatal heart disease. Springer, Berlin Heidelberg New York Tokyo, pp 357–373

    Google Scholar 

  • Edwards JE (1953) Malformations of the aortic arch system manifested as „vascular rings“. Lab Invest 2:56

    PubMed  CAS  Google Scholar 

  • Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC (2001) Familial tetralogy of Fallot caused by mutation in the jaggedl gene. Hum Mol Genet 10:163–169

    Article  PubMed  CAS  Google Scholar 

  • Esch van H, Groenen P, Nesbit MA et al (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406:419–422

    Article  PubMed  CAS  Google Scholar 

  • Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 93:1071–1077

    Article  CAS  Google Scholar 

  • Ewart JL, Cohen MF, Meyer RA et al (1997) Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene. Development 124:1281–1292

    PubMed  CAS  Google Scholar 

  • Fan C, Liu M, Wang Q (2003) Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem 278:8780–8785

    Article  PubMed  CAS  Google Scholar 

  • Fedak PW, Verma S, David TE, Leask RL, Weisel RD, Butany J (2002) Clinical and pathophysiological implications of a bicuspid aortic valve. Circulation 106:900–904

    Article  PubMed  Google Scholar 

  • Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD (1997) Genetic and environmental risk factors of major cardiovascular malformations. The Baltimore-Washington Infant Study 1981–1989, vol 5. Futura, Armonk NY

    Google Scholar 

  • Fixier DE, Threlkeld N (1998) Prenatal exposures and congenital heart defects in Down syndrome infants. Teratology 58:6–12

    Article  Google Scholar 

  • Francke U (1999) Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet 8:1947–1954

    Article  PubMed  CAS  Google Scholar 

  • Freedom RM, Culham JAG, Moes CAF (1984) Angiocardiography of congenital heart disease. Macmillan, New York

    Google Scholar 

  • Freeman SB, Taft LF, Dooley KJ et al (1998) Population-based study of congenital heart defects in Down synrome. Am J Med Genet 80:213–217

    Article  PubMed  CAS  Google Scholar 

  • Fuentes JJ, Genesca L, Kingsbury TJ, Cunningham KW, Perez-Riba M, Estivill X, de la Luna S (2000) DSCR1, over-expressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet 9:1681–1690

    Article  PubMed  CAS  Google Scholar 

  • Garg V, Kathiriya IS, Barnes R et al (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424:443–447

    Article  PubMed  CAS  Google Scholar 

  • Gebbia M, Towbin JA, Casey B (1996) Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 94:1909–1912

    PubMed  CAS  Google Scholar 

  • Gebbia M, Ferrero GB, Pilia G et al (1997) X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 17:305–308

    Article  PubMed  CAS  Google Scholar 

  • Gebhardt GS, Devriendt K, Thoelen R et al (2003) No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/velocardiofacial syndrome. Eur J Hum Genet 11:109–111

    Article  PubMed  CAS  Google Scholar 

  • Giannakudis J, Ropke A, Kujat A et al (2001) Parental mosaicism of JAG1 mutations in families with Alagille syndrome. Eur J Hum Genet 9:209–216

    Article  PubMed  CAS  Google Scholar 

  • Giglio S, Graw SL, Gimelli G et al (2000) Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 102:432–437

    PubMed  CAS  Google Scholar 

  • Gilljam T, McCrindle BW, Smallhorn JF, Williams WG, Freedom RM (2000) Outcomes of left atrial isomerism over a 28-year period at a Single Institution. J Am Coll Cardiol 36:906–916

    Article  Google Scholar 

  • Goldmuntz E, Clark BJ, Mitchell LE et al (1998) Frequency of 22q11.2 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492–498

    Article  PubMed  CAS  Google Scholar 

  • Goldmuntz E, Geiger E, Benson DW (2001) NKX2.5 mutations in patients with tetralogy of fallot. Circulation 104:2565–2568

    Article  PubMed  CAS  Google Scholar 

  • Goldmuntz E, Bamford R, Karkera JD, de la Cruz J, Roessler E, Muenke M (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 70:776–780

    Article  PubMed  CAS  Google Scholar 

  • Gong W, Gottlieb S, Collins J et al (2001) Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 38:E45

    Article  PubMed  CAS  Google Scholar 

  • Grech V, Gatt M (1999) Syndromes and malformations associated with congenital heart disease in a population-based study. Int J Cardiol 68:151–156

    Article  PubMed  CAS  Google Scholar 

  • Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER (2000) Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet 37:581–587

    Article  PubMed  CAS  Google Scholar 

  • Grossfeld P (2002) The genetics of hypoplastic left heart syndrome. In: Bove EL (ed) Hypoplastic left heart syndrome. Futura, Armonk NY, pp 19–27

    Google Scholar 

  • Grossfeld PD, Chien KR (2000) Molecular genetics of congenital heart disease. In: Takao A (ed) Etiology and morphogenesis of congenital heart disease. Futura, Armonk NY, pp 43–66

    Google Scholar 

  • Guichard C, Harricane MC, Lafitte JJ et al (2001) Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 68:1030–1035

    Article  PubMed  CAS  Google Scholar 

  • Gutgesell HP (1997) Cardiac malposition and heterotaxy. In: Neish SR (ed) The science and practice of pediatric cardiology, vol II. Williams & Wilkins, Baltimore, pp 1539–1561

    Google Scholar 

  • Haak MC, Bartelings MM, Gittenberger-De Groot AC, Van Vugt JM (2002) Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology. Ultrasound Obstet Gynecol 20:14–21

    Article  PubMed  CAS  Google Scholar 

  • Hashmi A, Abu-Sulaiman R, McCrindle BW, Smallhorn JF, Williams WG, Freedom RM (1998) Management and outcomes of right atrial isomerism: a 26-year experience. J Am Coll Cardiol 31:1120–1126

    Article  PubMed  CAS  Google Scholar 

  • Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I (2001) Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet 28:276–280

    Article  PubMed  CAS  Google Scholar 

  • Ho SY, Anderson RH (1979) Coarctation, tubular hypoplasia, and the ductus arteriosus. Histological study of 35 specimens. Br Heart J 41:268–274

    Article  PubMed  CAS  Google Scholar 

  • Hofbeck M, Rupprecht T, Reif R, Singer H (1991a) Fehlabgang der rechten A. subclavia aus der A. pulmonalis: Eine seltene Ursache des Subclavian-steal-Syndromes im Kindesalter. Monatsschr Kinderheilkd 139:363–365

    PubMed  CAS  Google Scholar 

  • Hofbeck M, Sunnegardh JT, Burrows PE et al (1991b) Analysis of survival in patients with pulmonic valve atresia and ventricular septal defect. Am J Cardiol 67:737–743

    Article  PubMed  CAS  Google Scholar 

  • Hofbeck M, Rauch A, Buheitel G, Leipold G, von der Emde J, Pfeiffer R, Singer H (1998) Monosomy 22q11.2 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Heart 79:180–185

    PubMed  CAS  Google Scholar 

  • Hofbeck M, Leipold G, Rauch A, Buheitel G, Singer H (1999) Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect. Eur J Pediatr 158:302–307

    Article  PubMed  CAS  Google Scholar 

  • Huntington K, Hunter AG, Chan KL (1997) A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30:1809–1812

    Article  PubMed  CAS  Google Scholar 

  • Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J (1973) An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23:568–585

    Article  PubMed  CAS  Google Scholar 

  • Jamieson CR, van der Burgt I, Brady AF et al (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357–360

    Article  PubMed  CAS  Google Scholar 

  • Kamath BM, Krantz ID, Spinner NB, Heubi JE, Piccoli DA (2002) Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Am J Med Genet 112:194–197

    Article  PubMed  Google Scholar 

  • Kara-Mostefa A, Raoul O, Lyonnet S et al (1999) Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. Am J Hum Genet 64:1475–1478

    Article  PubMed  CAS  Google Scholar 

  • Karnebeek van CD, Hennekam RC (1999) Associations between chromosomal anomalies and congenital heart defects: a database search. Am J Med Genet 84:158–166

    Article  PubMed  Google Scholar 

  • Kasahara H, Lee B, Schott JJ, Benson DW, Seidman JG, Seidman CE, Izumo S (2000) Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest 106:299–308

    Article  PubMed  CAS  Google Scholar 

  • Katcher AL (1980) Familial asplenia, other malformations, and sudden death. Pediatrics 65:633–635

    PubMed  CAS  Google Scholar 

  • Kazuma N, Murakami M, Suzuki Y, Umezu R, Murata M (1997) Cervical aortic arch associated with 22q11.2 deletion. Pediatr Cardiol 18:149–151

    Article  PubMed  CAS  Google Scholar 

  • Kessler-Icekson G, Birk E, Weintraub AY et al (2002) Association of tetralogy of Fallot with a distinct region of del22q11.2. Am J Med Genet 107:294–298

    Article  PubMed  Google Scholar 

  • Kirby ML (2002) Molecular embryogenesis of the heart. Pediatr Dev Pathol 5:516–543

    Article  PubMed  Google Scholar 

  • Koch A, Buheitel G, Hofbeck M, Rauch A, Kraus C, Tassabehji M, Singer H (2003) Spectrum of arterial obstructions caused by one elastin gene point mutation. Eur J Pediatr 162:53–54

    Article  PubMed  Google Scholar 

  • Kochilas L, Merscher-Gomez S, Lu MM et al (2002) The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome. Dev Biol 251:157–166

    Article  PubMed  CAS  Google Scholar 

  • Kohlhase J, Heinrich M, Schubert L et al (2002) Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11:2979–2987

    Article  PubMed  CAS  Google Scholar 

  • Kohlhase J, Schubert L, Liebers M et al (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopafhy. J Med Genet 40:473–478

    Article  PubMed  CAS  Google Scholar 

  • Kohsaka T, Yuan ZR, Guo SX et al (2002) The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia. Hepatology 36:904–912

    PubMed  CAS  Google Scholar 

  • Korenberg JR, Kawashima H, Pulst SM et al (1990) Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 47:236–246

    PubMed  CAS  Google Scholar 

  • Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, Casey B (1999a) Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet 64:712–721

    Article  PubMed  CAS  Google Scholar 

  • Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B (1999b) Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 82:70–76

    Article  PubMed  CAS  Google Scholar 

  • Krantz ID, Smith R, Colliton RP et al (1999) Jaggedl mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 84:56–60

    Article  PubMed  CAS  Google Scholar 

  • Kumar A, Victorica BE, Gessner IH, Alexander JA (1994) Tricuspid atresia and annular hypoplasia: report of a familial occurrence. Pediatr Cardiol 15:201–203

    Article  PubMed  CAS  Google Scholar 

  • Kumar A, McCombs JL, Sapire DW (1997) Deletions in chromosome 22q11.2 region in cervical aortic arch. Am J Cardiol 79:388–390

    Article  PubMed  CAS  Google Scholar 

  • Kurnit DM, Aldridge JF, Matsuoka R, Matthysse S (1985) Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in Down syndrome: a stochastic model. Am J Med Genet 20:385–399

    Article  PubMed  CAS  Google Scholar 

  • Kutsche LM, van Mierop LH (1984) Cervical origin of the right subclavian artery in aortic arch interruption: pathogenesis and significance. Am J Cardiol 53:892–895

    Article  PubMed  CAS  Google Scholar 

  • Latson LA (1997) Aortic stenosis: valvar, supravalvar and fibromuscular subvalvar. In: Neish SR (ed) The science and practice of pediatric cardiology, vol I. Williams & Wilkins, Baltimore, pp 1257–1276

    Google Scholar 

  • Le Caignec C, Lefevre M, Schott JJ, Chaventre A, Gayet M, Calais C, Moisan JP (2002) Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine Substitution in the first epidermal-growfh-factor-like domain of jagged 1. Am J Hum Genet 71:180–186

    Article  PubMed  Google Scholar 

  • Lee TC, Zhao YD, Courtman DW, Stewart DJ (2000) Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation 101:2345–2348

    PubMed  CAS  Google Scholar 

  • Lichtner P, Atti-Bitach T, Schuffenhauer S et al (2002) Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J Mol Med 80:431–442

    Article  PubMed  CAS  Google Scholar 

  • Li DY, Faury G, Taylor DG et al (1998) Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest 102:1783–1787

    Article  PubMed  CAS  Google Scholar 

  • Lindsay EA (2001) Chromosomal microdeletions: dissecting del22q11.2 syndrome. Nat Rev Genet 2:858–868

    Article  PubMed  CAS  Google Scholar 

  • Liu XZ, Xia XJ, Adams J et al (2001) Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafhess. Hum Mol Genet 10:2945–2951

    Article  PubMed  CAS  Google Scholar 

  • Li Volti S, Distefano G, Garozzo R, Romeo MG, Sciacca P, Mollica F (1991) Autosomal dominant atrial septal defect of ostium secundum type. Report of three families. Ann Genet 34:14–18

    PubMed  CAS  Google Scholar 

  • Lowery MC, Morris CA, Ewart A et al (1995) Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 57:49–53

    PubMed  CAS  Google Scholar 

  • MacLellan-Tobert SG, Porter CJ (1997) Ebstein’s anomaly of the tricuspid valve. In: Neish SR (ed) The science and practice of pediatric cardiology, vol I. Williams & Wilkins, Baltimore, pp 1303–1315

    Google Scholar 

  • Marino B, Digilio MC, Grazioli S, Formigari R, Mingarelli R, Giannotti A, Dallapiccola B (1996) Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot. Am J Cardiol 77:505–508

    Article  PubMed  CAS  Google Scholar 

  • Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B (1999) Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135:703–706

    Article  PubMed  CAS  Google Scholar 

  • Markwald RR, Fitzharris TP, Manasek FJ (1977) Structural development of endocardial cushions. Am J Anat 148:85–119

    Article  PubMed  CAS  Google Scholar 

  • Mazzanti L, Cacciari E (1998) Congenital heart disease in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 133:688–692

    PubMed  CAS  Google Scholar 

  • McCright B, Lozier J, Gridley T (2002) A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jagl haploinsufficiency. Development 129:1075–1082

    PubMed  CAS  Google Scholar 

  • McElhinney DB, Clark BJ 3rd, Weinberg PM et al (2001) Association of chromosome 22q11.2 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 37:2114–2119

    Article  PubMed  CAS  Google Scholar 

  • McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E (2002) Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106:2567–2574

    Article  PubMed  Google Scholar 

  • Mclntosh N, Chitayat D, Bardanis M, Fouron JC (1992) Ebstein anomaly: report of a familial occurrence and prenatal diagnosis. Am J Med Genet 42:307–309

    Article  Google Scholar 

  • Megarbane A, Salem N, Stephan E et al (2000) X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 8:704–708

    Article  PubMed  CAS  Google Scholar 

  • Metcalfe K, Rucka AK, Smoot L et al (2000) Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8:955–963

    Article  PubMed  CAS  Google Scholar 

  • Mizugishi K, Yamanaka K, Kuwajima K, Kondo I (1998) Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43:178–181

    Article  PubMed  CAS  Google Scholar 

  • Momma K, Kondo C, Matsuoka R (1996) Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11.2 deletion. J Am Coll Cardiol 27:198–202

    Article  PubMed  CAS  Google Scholar 

  • Momma K, Ando M, Matsuoka R (1997) Truncus arteriosus communis associated with chromosome 22q11.2 deletion. J Am Coll Cardiol 30:1067–1071

    Article  PubMed  CAS  Google Scholar 

  • Morris MJ, McNamara DG (1997) Coarctation of the aorta and interrupted aortic arch. In: Neish SR (ed) The science and practice of pediatric cardiology, vol I. Williams & Wilkins, Baltimore, pp 1317–1346

    Google Scholar 

  • Mullins CE (1997) Ventricular inversion. In: Neish SR (ed) The science and practice of pediatric cardiology, vol II. Williams & Wilkins, Baltimore, pp 1525–1538

    Google Scholar 

  • Muster AJ, Idriss RF, Backer CL (2001) The left-sided aortic arch in humans, viewed as the end-result of natural selection during vertebrate evolution. Cardiol Young 11:111–122

    PubMed  CAS  Google Scholar 

  • Natowics TA, Chatten J, Clancy R et al (1988) Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics 82:698–706

    Google Scholar 

  • Niikawa N, Kohsaka S, Mizumoto M, Hamada I, Kajii T (1983) Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. Am J Med Genet 16:43–47

    Article  PubMed  CAS  Google Scholar 

  • Olbrich H, Haffner K, Kispert A et al (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 30:143–144

    Article  PubMed  CAS  Google Scholar 

  • Orie JD, Anderson C, Ettedgui JA, Zuberbuhler JR, Anderson RH (1995) Echocardiographic-morphologic correlations in tricuspid atresia. J Am Coll Cardiol 26:750–758

    Article  PubMed  CAS  Google Scholar 

  • Osborne LR (1999) Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Mol Genet Metab 67:1–10

    Article  PubMed  CAS  Google Scholar 

  • Pan J, Hinzmann B, Yan W, Wu F, Morser J, Wu Q (2002) Genomic structures of the human and murine corin genes and functional GATA elements in their promoters. J Biol Chem 277:38390–38398

    Article  PubMed  CAS  Google Scholar 

  • Paoloni-Giacobino A, Chen H, Antonarakis SE (1997) Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome. Genomics 43:43–51

    Article  PubMed  CAS  Google Scholar 

  • Paznekas WA, Boyadjiev SA, Shapiro RE et al (2003) Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72:408–418

    Article  PubMed  CAS  Google Scholar 

  • Pehlivan T, Pober BR, Brueckner M et al (1999) GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 83:201–206

    Article  PubMed  CAS  Google Scholar 

  • Peirone A, Abdullah MM, Dicke F, Freedom RM, Smallhorn J (2002) Echocardiographic evaluation, management and outcomes of bilateral arterial ducts and complex congenital heart disease: 16 years’ experience. Cardiol Young 12:272–277

    Article  PubMed  Google Scholar 

  • Pennarun G, Escudier E, Chapelin C et al (1999) Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC 78 result in primary ciliary dyskinesia. Am J Hum Genet 65:1508–1519

    Article  PubMed  CAS  Google Scholar 

  • Perez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59:781–592

    PubMed  CAS  Google Scholar 

  • Phillips HM, Renforth GL, Spalluto C et al (2002) Narrowing the critical region within Ilq24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 79:475–478

    Article  PubMed  CAS  Google Scholar 

  • Prandstraller D, Mazzanti L, Picchio FM et al (1999) Turner’s syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-up of 136 non preselected patients. Pediatr Cardiol 20: 108–112

    Article  PubMed  CAS  Google Scholar 

  • Pyle RL, Patterson DF, Chacko S (1976) The genetics and pathology of discrete subaortic stenosis in the Newfound-land dog. Am Heart J 92:324–334

    Article  PubMed  CAS  Google Scholar 

  • Rao PS, Levy JM, Nikiciczm E, Gilbert-Barness EF (1991) Tricuspid atresia: association with persistent truncus arteriosus. Am Heart J 122:829–835

    Article  PubMed  CAS  Google Scholar 

  • Rauch A, Trautmann U, Pfeiffer RA (1995) Deletion 3p25-pter als eine wenig bekannte Ursache der syndromalen kongenitalen Blepharoptose. Monatsschr Kinderheilkd 143:979–982

    Google Scholar 

  • Rauch A, Trautmann U, Singer H, Kevekordes B, Dörr H-G, Pfeiffer RA (1997) Diagnostik des Williams-Beuren-Syndroms. Monatsschr Kinderheilkd 145:1066–1070

    Article  Google Scholar 

  • Rauch A, Hofbeck M, Leipold G, Bähring S, Pfeiffer RA (1998a) Monozygotic twins concordant for Cayler syndrome. Am J Med Genet 75:113–117

    Article  PubMed  CAS  Google Scholar 

  • Rauch A, Hofbeck M, Leipold G et al (1998b) Incidence and significance of 22q11.2 hemizygosity in patients with in-terrupted aortic arch. Am J Med Genet 78:322–331

    Article  PubMed  CAS  Google Scholar 

  • Rauch A, Beese M, Mayatepek E, Dorr HG, Wenzel D, Reis A, Trautmann U (2003) A novel 5q35.3 subtelomeric deletion syndrome. Am J Med Genet 121A:1–8

    Article  PubMed  Google Scholar 

  • Rauch A, Devriendt K, Koch A, Rauch R, Weyand M, Singer H, Reis A, Hofbeck M (2004) Assessment of association between TBX1 variants and haplotypes with manifestation of congenital heart defects in 22q11.2 deletion patients. J Med Genet 41:e40

    Article  PubMed  CAS  Google Scholar 

  • Rauch A, Koch A, Rauch A, Zenker M, Weyand M, Singer H, Hofbeck M (in Vorbereitung) Systematic assessment of incidence and clinical relevance of atypical 22q11.2 deletion sizes

    Google Scholar 

  • Rauch R, Rauch A, Koch A, Kumpf M, Dufke A, Singer H, Hofbeck M (2002) Cervical origin of the subclavian artery as a specific marker for monosomy 22q11.2. Am J Cardiol 89:481–484

    Article  PubMed  Google Scholar 

  • Reis PM, Punch MR, Bove EL, van de Ven CJ (1999) Outcome of infants with hypoplastic left heart and Turner syndromes. Obstet Gynecol 93:532–535

    Article  PubMed  CAS  Google Scholar 

  • Roberts WC (1970) The congenitally biscupid aortic valve. Am J Cardiol 26:72–83

    Article  PubMed  CAS  Google Scholar 

  • Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL (2003) Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72:1047–1052

    Article  PubMed  CAS  Google Scholar 

  • Ropke A, Kujat A, Graber M, Giannakudis J, Hansmann I (2003) Identification of 36 novel Jaggedl (JAG1) mutations in patients with Alagille syndrome. Hum Mutat 21:100

    Article  PubMed  CAS  Google Scholar 

  • Ruiz-Perez VL, Ide SE, Strom TM et al (2000) Mutations in a new gene in Ellis van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 24:283–286

    Article  PubMed  CAS  Google Scholar 

  • Ruiz-Perez VL, Tompson SW, Blair HJ et al (2003) Mutations in two non homologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 72:728–732

    Article  PubMed  CAS  Google Scholar 

  • Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11.2 deletions: a European collaborative study. J Med Genet 34:798–804

    Article  PubMed  CAS  Google Scholar 

  • Sadler LS, Pober BR, Grandinetti A, Scheiber D, Fekete G, Sharma AN, Urban Z (2001) Differences by sex in cardio-vascular disease in Williams syndrome. J Pediatr 139:849–853

    Article  PubMed  CAS  Google Scholar 

  • Sarkozy A, Esposito G, Pizzuti A et al (2003) Nonsyndromic pulmonary valve stenosis and the PTPN11 gene. Am J Med Genet 116A:389–390

    Article  PubMed  Google Scholar 

  • Satoda M, Zhao F, Diaz GA et al (2000) Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet 25:42–46

    Article  PubMed  CAS  Google Scholar 

  • Scambler PJ (2000) The 22q11.2 deletion syndromes. Hum Mol Genet 9:2421–2426

    Article  PubMed  CAS  Google Scholar 

  • Scambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991) Microdeletions within 22q11.2 associated with sporadic and familial Di-George syndromes. Genomics 10:201–206

    Article  PubMed  CAS  Google Scholar 

  • Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E (2003) PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet 11:85–88

    Article  PubMed  CAS  Google Scholar 

  • Schott JJ, Benson DW, Basson CT et al (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281:108–111

    Article  PubMed  CAS  Google Scholar 

  • Shone JD, Seilers RD, Anderson RC, Adams P, Lillehei CW, Edwards JE (1963) The developmental complex of parachute mitral valve, supravalvular ring of left atrium, subaortic stenosis and coarctation of the aorta. Am J Cardiol 11:714–725

    Article  PubMed  CAS  Google Scholar 

  • Silver W, Steier M, Chandra N (1972) Asplenia syndrome with congenital heart disease and tetralogy of Fallot in siblings. Am J Cardiol 30:91–94

    Article  PubMed  CAS  Google Scholar 

  • Silverman H (1997) The secundum atrial septal defect and atrioventricular septal defects. In: Freedom R (ed) Atlas of heart diseases, vol XII. Mosby, St Louis

    Google Scholar 

  • Singh SM, Murphy B, O’Reilly R (2002) Monozygotic twins with chromosome 22q11.2 deletion and discordant phenotypes: Updates with an epigenetic hypothesis. J Med Genet 39:e71

    Article  PubMed  CAS  Google Scholar 

  • Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M (2001) Jaggedl mutations in Alagille syndrome. Hum Mutat 17:18–33

    Article  PubMed  CAS  Google Scholar 

  • Splitt MP, Burn J, Goodship J (1995) Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med 333:941; author reply 941–2

    Article  PubMed  CAS  Google Scholar 

  • Stalmans I, Lambrechts D, De Smet F et al (2003) VEGF: A modifier of the del22q11.2 (DiGeorge) syndrome? Nat Med 9:173–182

    Article  PubMed  CAS  Google Scholar 

  • Taddei I, Morishima M, Huynh T, Lindsay EA (2001) Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11.2 syndromes. Proc Natl Acad Sci USA 98:11428–11431

    Article  PubMed  CAS  Google Scholar 

  • Tandon R, Edwards JE (1974) Tricuspid atresia. A re-evaluation and classification. J Thorac Cardiovasc Surg 67:530–542

    PubMed  CAS  Google Scholar 

  • Tartaglia M, Mehler EL, Goldberg R et al (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465–468

    Article  PubMed  CAS  Google Scholar 

  • Tartaglia M, Kalidas K, Shaw A et al (2002) PTPN11 mutations in Noonan syndrome: molecular spectrum, geno-type-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555–1563

    Article  PubMed  CAS  Google Scholar 

  • Tartaglia M, Niemeyer CM, Fragale A et al (2003) Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34:148–150

    Article  PubMed  CAS  Google Scholar 

  • Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (1994) Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet 6:401–404

    Article  PubMed  CAS  Google Scholar 

  • Toscano A, Anaclerio S, Digilio MC, Giannotti A, Fariello G, Dallapiccola B, Marino B (2002) Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies. Eur J Pediatr 161:116–117

    Article  PubMed  CAS  Google Scholar 

  • Trainer AH, Morrison N, Dunlop A, Wilson N, Tolmie J (1996) Chromosome 22q11.2 microdeletions in tetralogy of Fallot. Arch Dis Child 74:62–63

    Article  PubMed  CAS  Google Scholar 

  • Urbach J, Glaser J, Balkin J, Rosenmann D, Levy R, Marin G, Vidne B (1985) Familial membranous subaortic stenosis. Cardiology:214–217

    Google Scholar 

  • Urban Z, Zhang J, Davis EC et al (2001) Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet 109:512–520

    Article  PubMed  CAS  Google Scholar 

  • Van Praagh R, Van Praagh S (1965) The anatomy of common aorticopulmonary trunk (truncus arteriosus communis) and its embryologic implications. A study of 57 necropsy cases. Am J Cardiol 16:406–425

    Article  PubMed  Google Scholar 

  • Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A (2002) A genetic link between Tbxl and fibroblast growth factor signaling. Development 129:4605–4611

    PubMed  CAS  Google Scholar 

  • Ward C (2000) Clinical significance of the bicuspid aortic valve. Heart 83:81–85

    Article  PubMed  CAS  Google Scholar 

  • Webber SA, Hatchwell E, Barber JC et al (1996) Importance of microdeletions of chromosomal region 22q11.2 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr 129:26–32

    Article  PubMed  CAS  Google Scholar 

  • Wilson DI, Burn J, Scambler P, Goodship J (1993) DiGeorge syndrome: part of CATCH 22. J Med Genet 30:852–856

    PubMed  CAS  Google Scholar 

  • Wilson DI, Cross IE, Wren C (1994) Minimum prevalence of chromosome 22q11.2 deletions. Am J Hum Genet 55:A169

    Google Scholar 

  • Wu YQ, Nickerson E, Shaffer LG, Keppler-Noreuil K, Muilenburg A (1999) A case of Williams syndrome with a large, visible cytogenetic deletion. J Med Genet 36:928–932

    PubMed  CAS  Google Scholar 

  • Yagi H, Furutani Y, Hamada H et al (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366–1373

    Article  PubMed  CAS  Google Scholar 

  • Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D (1999) A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158–1161

    Article  PubMed  CAS  Google Scholar 

  • Yang Q, Rasmussen SA, Friedman JM (2002) Mortality associated with Down’s syndrome in the USA from 1983 to 1997: a population-based study. Lancet 359:1019–1025

    Article  PubMed  Google Scholar 

  • Yuan ZR, Okaniwa M, Nagata I et al (2001) The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome. Clin Genet 59:330–337

    Article  PubMed  CAS  Google Scholar 

  • Zariwala M, Noone PG, Sannuti A et al (2001) Germ line mutations in an intermediate chain dynein cause primary ciliary dyskinesia. Am J Respir Cell Mol Biol 25:577–583

    PubMed  CAS  Google Scholar 

  • Zenker M, Buheitel G, Hofbeck M (2004) Noonan. J Pediatr 144:368–374

    Article  PubMed  CAS  Google Scholar 

  • Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD (2001) Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet 69:695–703

    Article  PubMed  CAS  Google Scholar 

  • Zhu H, Junker WM, Finnell RH et al (2003) Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations. Am J Med Genet 116A:414–415

    Article  PubMed  Google Scholar 

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Rauch, A., Hofbeck, M. (2005). Herzfehlbildungen. In: Ganten, D., Ruckpaul, K. (eds) Molekularmedizinische Grundlagen von fetalen und neonatalen Erkrankungen. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-26524-4_7

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