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Volumn 46, Issue 1, 2007, Pages 1-8

Chromosomal abnormalities associated with omphalocele

Author keywords

Chromosomal abnormalities; Genetics; Omphalocele

Indexed keywords

ANEUPLOIDY; AUTOSOME MOSAICISM; CHROMOSOME 11; CHROMOSOME 11P; CHROMOSOME 12P; CHROMOSOME 14; CHROMOSOME 15Q; CHROMOSOME 17P; CHROMOSOME 17Q; CHROMOSOME 1Q; CHROMOSOME 3Q; CHROMOSOME 4Q; CHROMOSOME 5P; CHROMOSOME 6Q; CHROMOSOME 9P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL FEATURE; DISEASE ASSOCIATION; GENETIC COUNSELING; HUMAN; KARYOTYPE 45,X; KARYOTYPE 47,XXX; KARYOTYPE 47,XXY; MILLER DIEKER SYNDROME; OMPHALOCELE; PALLISTER KILLIAN SYNDROME; REVIEW; TETRASOMY; TRIPLOIDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; UNIPARENTAL DISOMY;

EID: 34247482797     PISSN: 10284559     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1028-4559(08)60099-6     Document Type: Review
Times cited : (50)

References (70)
  • 1
    • 0027532296 scopus 로고
    • Omphalocele and gastroschisis: A collaborative study of five Italian congenital malformation registries
    • Calzolari E, Volpato S, Bianchi F, et al. Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries. Teratology 1993;47:47-55.
    • (1993) Teratology , vol.47 , pp. 47-55
    • Calzolari, E.1    Volpato, S.2    Bianchi, F.3
  • 2
    • 0029076262 scopus 로고
    • Omphalocele and gastroschisis in Europe: A survey of 3 million births 1980-1990. EUROCAT Working Group
    • Calzolari E, Bianchi F, Dolk H, Milan M. Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. Am J Med Genet 1995;58:187-94.
    • (1995) Am J Med Genet , vol.58 , pp. 187-194
    • Calzolari, E.1    Bianchi, F.2    Dolk, H.3    Milan, M.4
  • 3
    • 0026604708 scopus 로고
    • Correlation between omphalocele contents and karyotypic abnormalities: Sonographic study in 37 cases
    • Getachew MM, Goldstein RB, Edge V, Goldberg JD, Filly RA. Correlation between omphalocele contents and karyotypic abnormalities: sonographic study in 37 cases. AJR 1992;158:133-6.
    • (1992) AJR , vol.158 , pp. 133-136
    • Getachew, M.M.1    Goldstein, R.B.2    Edge, V.3    Goldberg, J.D.4    Filly, R.A.5
  • 6
    • 0026689567 scopus 로고
    • Fetal gastro-intestinal and abdominal wall defects: Associated malformations and chromosomal abnormalities
    • Nicolaides KH, Snijders RJ, Cheng H-H, Gosden C. Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 1992;7:102-15.
    • (1992) Fetal Diagn Ther , vol.7 , pp. 102-115
    • Nicolaides, K.H.1    Snijders, R.J.2    Cheng, H.-H.3    Gosden, C.4
  • 7
    • 0028244515 scopus 로고
    • Prenatal diagnosis and management of the fetus with an abdominal wall defect
    • Paidas MJ, Crombleholme TM, Robertson FM. Prenatal diagnosis and management of the fetus with an abdominal wall defect. Semin Perinatol 1994;18:196-214.
    • (1994) Semin Perinatol , vol.18 , pp. 196-214
    • Paidas, M.J.1    Crombleholme, T.M.2    Robertson, F.M.3
  • 9
    • 0029927306 scopus 로고    scopus 로고
    • Chromosomal anomalies in newborns with omphalocele
    • St-Vil D, Shaw KS, Lallier M, et al. Chromosomal anomalies in newborns with omphalocele. J Pediatr Surg 1996;31:831-4.
    • (1996) J Pediatr Surg , vol.31 , pp. 831-834
    • St-Vil, D.1    Shaw, K.S.2    Lallier, M.3
  • 10
    • 2942700078 scopus 로고    scopus 로고
    • Fetal omphalocele detected early in pregnancy: Associated anomalies and outcomes
    • Blazer S, Zimmer EZ, Gover A, Bronshtein M. Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Radiology 2004;232:191-5.
    • (2004) Radiology , vol.232 , pp. 191-195
    • Blazer, S.1    Zimmer, E.Z.2    Gover, A.3    Bronshtein, M.4
  • 11
    • 20444503662 scopus 로고    scopus 로고
    • Omphalocele and congenital diaphragmatic hernia associated with fetal trisomy 18
    • Chen C-P. Omphalocele and congenital diaphragmatic hernia associated with fetal trisomy 18. Prenat Diagn 2005;25:421-3.
    • (2005) Prenat Diagn , vol.25 , pp. 421-423
    • Chen, C.-P.1
  • 12
    • 0023270801 scopus 로고
    • Fetal omphalocele: Associated malformations and chromosomal defects
    • Gilbert WM, Nicolaides KH. Fetal omphalocele: associated malformations and chromosomal defects. Obstet Gynecol 1987;70:633-5.
    • (1987) Obstet Gynecol , vol.70 , pp. 633-635
    • Gilbert, W.M.1    Nicolaides, K.H.2
  • 14
    • 0024394175 scopus 로고
    • Fetal omphalocele: Prenatal US detection of concurrent anomalies and other predictors of outcome
    • Hughes MD, Nyberg DA, Mack LA, Pretorius DH. Fetal omphalocele: prenatal US detection of concurrent anomalies and other predictors of outcome. Radiology 1989;173:371-6.
    • (1989) Radiology , vol.173 , pp. 371-376
    • Hughes, M.D.1    Nyberg, D.A.2    Mack, L.A.3    Pretorius, D.H.4
  • 15
    • 3442877619 scopus 로고    scopus 로고
    • Omphalocele and gastroschisis: An 18-year review study
    • Hwang P-J, Kousseff BG. Omphalocele and gastroschisis: an 18-year review study. Genet Med 2004;6:232-6.
    • (2004) Genet Med , vol.6 , pp. 232-236
    • Hwang, P.-J.1    Kousseff, B.G.2
  • 16
    • 3142756552 scopus 로고    scopus 로고
    • The changing face of gastroschisis and omphalocele in southeast Georgia
    • Goldkrand JW, Causey TN, Hull EE. The changing face of gastroschisis and omphalocele in southeast Georgia. J Matern Fetal Neonatal Med 2004;15:331-5.
    • (2004) J Matern Fetal Neonatal Med , vol.15 , pp. 331-335
    • Goldkrand, J.W.1    Causey, T.N.2    Hull, E.E.3
  • 17
    • 0020502116 scopus 로고
    • Early prenatal diagnosis of omphalocele constitutes indication for amniocentesis
    • Hauge M, Bugge M, Nielsen J. Early prenatal diagnosis of omphalocele constitutes indication for amniocentesis. Lancet 1983;2(8348):507.
    • (1983) Lancet , vol.2 , Issue.8348 , pp. 507
    • Hauge, M.1    Bugge, M.2    Nielsen, J.3
  • 18
    • 0035662735 scopus 로고    scopus 로고
    • Risk factors in congenital abdominal wall defects (omphalocele and gastroschisis): A study in a series of 265 858 consecutive births
    • Stoll C, Alembik Y, Dott B, Roth MP. Risk factors in congenital abdominal wall defects (omphalocele and gastroschisis): a study in a series of 265 858 consecutive births. Ann Genet 2001;44:201-8.
    • (2001) Ann Genet , vol.44 , pp. 201-208
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 19
    • 0024574028 scopus 로고
    • Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment
    • Eydoux P, Choiset A, Le Porrier N, et al. Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment. Prenat Diagn 1989;9:255-69.
    • (1989) Prenat Diagn , vol.9 , pp. 255-269
    • Eydoux, P.1    Choiset, A.2    Le Porrier, N.3
  • 20
    • 0036390102 scopus 로고    scopus 로고
    • Omphalocele and gastroschisis in Taiwan
    • Hsu C-C, Lin S-P, Chen C-H, et al. Omphalocele and gastroschisis in Taiwan. Eur J Pediatr 2002;161:552-5.
    • (2002) Eur J Pediatr , vol.161 , pp. 552-555
    • Hsu, C.-C.1    Lin, S.-P.2    Chen, C.-H.3
  • 21
    • 0028229894 scopus 로고
    • Prediction of an abnormal karyotype in fetuses with omphalocele
    • De Veciana M, Major CA, Porto M. Prediction of an abnormal karyotype in fetuses with omphalocele. Prenat Diagn 1994;14:487-92.
    • (1994) Prenat Diagn , vol.14 , pp. 487-492
    • De Veciana, M.1    Major, C.A.2    Porto, M.3
  • 22
    • 0025191352 scopus 로고
    • Abnormal karyotype of fetuses with omphalocele: Prediction based on omphalocele contents
    • Benacerraf BR, Saltzman DH, Estroff JA, Frigoletto FD Jr. Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obstet Gynecol 1990;75:317-9.
    • (1990) Obstet Gynecol , vol.75 , pp. 317-319
    • Benacerraf, B.R.1    Saltzman, D.H.2    Estroff, J.A.3    Frigoletto Jr., F.D.4
  • 25
    • 0030831860 scopus 로고    scopus 로고
    • Is there an association of Down syndrome and omphalocele?
    • Torfs CP, Honoré LH, Curry CJR. Is there an association of Down syndrome and omphalocele? Am J Med Genet 1997;73:400-3.
    • (1997) Am J Med Genet , vol.73 , pp. 400-403
    • Torfs, C.P.1    Honoré, L.H.2    Curry, C.J.R.3
  • 26
    • 0033582665 scopus 로고    scopus 로고
    • Is there an association of Down syndrome and omphalocele?
    • Mastroiacovo P, Robert E, Källén B. Is there an association of Down syndrome and omphalocele? Am J Med Genet 1999;82:443.
    • (1999) Am J Med Genet , vol.82 , pp. 443
    • Mastroiacovo, P.1    Robert, E.2    Källén, B.3
  • 29
    • 33646037957 scopus 로고    scopus 로고
    • Cystic hygroma and omphalocele at 11 weeks in a fetus with monosomy X
    • Goldstein I, Drugan A. Cystic hygroma and omphalocele at 11 weeks in a fetus with monosomy X. Prenat Diagn 2006;26:381-2.
    • (2006) Prenat Diagn , vol.26 , pp. 381-382
    • Goldstein, I.1    Drugan, A.2
  • 31
    • 0024411440 scopus 로고
    • Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents
    • Nyberg DA, Fitzsimmons J, Mack LA, et al. Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. J Ultrasound Med 1989;8:299-308.
    • (1989) J Ultrasound Med , vol.8 , pp. 299-308
    • Nyberg, D.A.1    Fitzsimmons, J.2    Mack, L.A.3
  • 32
    • 0029619814 scopus 로고
    • Prenatal diagnosis of omphalocele associated with umbilical cord cyst
    • Chen C-P, Jan S-W, Liu F-F, et al. Prenatal diagnosis of omphalocele associated with umbilical cord cyst. Acta Obstet Gynecol Scand 1995;74:832-5.
    • (1995) Acta Obstet Gynecol Scand , vol.74 , pp. 832-835
    • Chen, C.-P.1    Jan, S.-W.2    Liu, F.-F.3
  • 35
    • 0019795274 scopus 로고
    • The dup(3q) syndrome: Report of eight cases and review of the literature
    • Steinbach P, Adkins WN Jr, Caspar H, et al. The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet 1981;10:159-77.
    • (1981) Am J Med Genet , vol.10 , pp. 159-177
    • Steinbach, P.1    Adkins Jr, W.N.2    Caspar, H.3
  • 36
    • 0030035471 scopus 로고    scopus 로고
    • Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation
    • Chen C-P, Jan S-W, Liu F-F, et al. Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation. J Med Genet 1996;33:615-7.
    • (1996) J Med Genet , vol.33 , pp. 615-617
    • Chen, C.-P.1    Jan, S.-W.2    Liu, F.-F.3
  • 37
    • 0028939240 scopus 로고
    • Duplication 3q syndrome: Molecular delineation of the critical region
    • Aqua MS, Rizzu P, Lindsay EA, et al. Duplication 3q syndrome: molecular delineation of the critical region. Am J Med Genet 1995;55:33-7.
    • (1995) Am J Med Genet , vol.55 , pp. 33-37
    • Aqua, M.S.1    Rizzu, P.2    Lindsay, E.A.3
  • 39
    • 0016767004 scopus 로고
    • Chromosome 3 duplication q21 → qter deletion p25 → pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21)
    • Allderdice PW, Browne N, Murphy DP. Chromosome 3 duplication q21 → qter deletion p25 → pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21). Am J Hum Genet 1975;27:699-718.
    • (1975) Am J Hum Genet , vol.27 , pp. 699-718
    • Allderdice, P.W.1    Browne, N.2    Murphy, D.P.3
  • 40
    • 0018568354 scopus 로고
    • Trisomy 3q: Two clinically similar but cytogenetically different cases
    • Mulcahy MT, Pemberton PJ, Sprague P. Trisomy 3q: two clinically similar but cytogenetically different cases. Ann Genet 1979;22:217-20.
    • (1979) Ann Genet , vol.22 , pp. 217-220
    • Mulcahy, M.T.1    Pemberton, P.J.2    Sprague, P.3
  • 41
    • 0030823198 scopus 로고    scopus 로고
    • Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q
    • Chen C-P, Lee C-C, Chuang CY, et al. Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q. Clin Genet 1997;52:196-8.
    • (1997) Clin Genet , vol.52 , pp. 196-198
    • Chen, C.-P.1    Lee, C.-C.2    Chuang, C.Y.3
  • 42
    • 0032972382 scopus 로고    scopus 로고
    • Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q
    • Chen C-P. Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q. Prenat Diagn 1999;19:591.
    • (1999) Prenat Diagn , vol.19 , pp. 591
    • Chen, C.-P.1
  • 43
    • 0034010976 scopus 로고    scopus 로고
    • De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele
    • Cinti R, Botta G, Asnaghi V, Del Monaco A, Salvego M, Silengo M. De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele. Fetal Diagn Ther 2000;15:61-2.
    • (2000) Fetal Diagn Ther , vol.15 , pp. 61-62
    • Cinti, R.1    Botta, G.2    Asnaghi, V.3    Del Monaco, A.4    Salvego, M.5    Silengo, M.6
  • 46
    • 0029796035 scopus 로고    scopus 로고
    • Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen
    • Schuffenhauer S, Kobelt A, Daumer-Haas C, et al. Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen. Am J Med Genet 1996;65:56-9.
    • (1996) Am J Med Genet , vol.65 , pp. 56-59
    • Schuffenhauer, S.1    Kobelt, A.2    Daumer-Haas, C.3
  • 47
    • 0019472306 scopus 로고
    • Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter)
    • Stamberg J, Shapiro J, Valle D, Kuhajda FP, Thomas G, Wissow L. Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter). Clin Genet 1981;19:122-5.
    • (1981) Clin Genet , vol.19 , pp. 122-125
    • Stamberg, J.1    Shapiro, J.2    Valle, D.3    Kuhajda, F.P.4    Thomas, G.5    Wissow, L.6
  • 48
    • 0026299696 scopus 로고
    • Short clinical report: A new case with de novo partial 9p monosomy
    • Nagy E, Bod M, Nerneth I, Timar L. Short clinical report: a new case with de novo partial 9p monosomy. Acta Paediatr Hung 1991;31:407-13.
    • (1991) Acta Paediatr Hung , vol.31 , pp. 407-413
    • Nagy, E.1    Bod, M.2    Nerneth, I.3    Timar, L.4
  • 49
    • 0037389185 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development
    • Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 2003;12(Spec No. 1):R61-8.
    • (2003) Hum Mol Genet , vol.12 , Issue.SPEC 1
    • Weksberg, R.1    Smith, A.C.2    Squire, J.3    Sadowski, P.4
  • 50
    • 0020511170 scopus 로고
    • Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome
    • Waziri M, Patil SR, Hanson JW, Bartley JA. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 1983;102:873-6.
    • (1983) J Pediatr , vol.102 , pp. 873-876
    • Waziri, M.1    Patil, S.R.2    Hanson, J.W.3    Bartley, J.A.4
  • 52
    • 0023011534 scopus 로고
    • An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13 → pter: Correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome
    • Okano Y, Osasa Y, Yamamoto H, Hase Y, Tsuruhara T, Fujita H. An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13 → pter: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. Jpn J Hum Genet 1986;31:365-72.
    • (1986) Jpn J Hum Genet , vol.31 , pp. 365-372
    • Okano, Y.1    Osasa, Y.2    Yamamoto, H.3    Hase, Y.4    Tsuruhara, T.5    Fujita, H.6
  • 53
    • 0030823992 scopus 로고    scopus 로고
    • Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome
    • Slavotinek A, Gaunt L, Donnai D. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet 1997;34:819-26.
    • (1997) J Med Genet , vol.34 , pp. 819-826
    • Slavotinek, A.1    Gaunt, L.2    Donnai, D.3
  • 54
    • 0026513356 scopus 로고
    • Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)
    • Norman AM, Read AP, Clayton-Smith J, Andrews T, Donnai D. Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5). Am J Med Genet 1992;42:638-41.
    • (1992) Am J Med Genet , vol.42 , pp. 638-641
    • Norman, A.M.1    Read, A.P.2    Clayton-Smith, J.3    Andrews, T.4    Donnai, D.5
  • 55
    • 0026773169 scopus 로고
    • Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11
    • Nystrom A, Cheetham JE, Engstrom W, Schofield PN. Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11. Eur J Pediatr 1992;151:511-4.
    • (1992) Eur J Pediatr , vol.151 , pp. 511-514
    • Nystrom, A.1    Cheetham, J.E.2    Engstrom, W.3    Schofield, P.N.4
  • 56
    • 0027184854 scopus 로고
    • Genomic imprinting: Consequences of uniparental disomy for human disease
    • Schinzel A. Genomic imprinting: consequences of uniparental disomy for human disease. Am J Med Genet 1993;46:683-4.
    • (1993) Am J Med Genet , vol.46 , pp. 683-684
    • Schinzel, A.1
  • 57
    • 0032511642 scopus 로고    scopus 로고
    • Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11
    • Dutly F, Baumer A, Kayserili H, et al. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998;79:347-53.
    • (1998) Am J Med Genet , vol.79 , pp. 347-353
    • Dutly, F.1    Baumer, A.2    Kayserili, H.3
  • 58
    • 0023851611 scopus 로고
    • Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization
    • Shivashankar L, Whitney E, Colmorgen G, et al. Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization. Prenat Diagn 1988;8:85-91.
    • (1988) Prenat Diagn , vol.8 , pp. 85-91
    • Shivashankar, L.1    Whitney, E.2    Colmorgen, G.3
  • 59
    • 0026729357 scopus 로고
    • A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)
    • Tejada MI, Uribarren A, Briones P, Vilaseca MA. A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome). Prenat Diagn 1992;12:529-34.
    • (1992) Prenat Diagn , vol.12 , pp. 529-534
    • Tejada, M.I.1    Uribarren, A.2    Briones, P.3    Vilaseca, M.A.4
  • 60
    • 0034834649 scopus 로고    scopus 로고
    • Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter
    • Towner D, Yang SP, Shaffer LG. Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter. Ultrasound Obstet Gynecol 2001;18:268-71.
    • (2001) Ultrasound Obstet Gynecol , vol.18 , pp. 268-271
    • Towner, D.1    Yang, S.P.2    Shaffer, L.G.3
  • 61
    • 0036644308 scopus 로고    scopus 로고
    • Paternal UPD 14 is responsible for a distinctive malformation complex
    • Kurosawa K, Sasaki H, Sato Y, et al. Paternal UPD 14 is responsible for a distinctive malformation complex. Am J Med Genet 2002;110:268-72.
    • (2002) Am J Med Genet , vol.110 , pp. 268-272
    • Kurosawa, K.1    Sasaki, H.2    Sato, Y.3
  • 62
    • 22144446038 scopus 로고    scopus 로고
    • Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
    • Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet 2005;136A:287-305.
    • (2005) Am J Med Genet , vol.136 A , pp. 287-305
    • Kotzot, D.1    Utermann, G.2
  • 66
    • 0027176708 scopus 로고
    • Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
    • Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-21.
    • (1993) Nature , vol.364 , pp. 717-721
    • Reiner, O.1    Carrozzo, R.2    Shen, Y.3
  • 67
    • 0023128535 scopus 로고
    • Prenatal diagnosis and management of congenital defects of the anterior abdominal wall
    • Sermer M, Benzie RJ, Pitson L, Carr M, Skidmore M. Prenatal diagnosis and management of congenital defects of the anterior abdominal wall. Am J Obstet Gynecol 1987;156:308-12.
    • (1987) Am J Obstet Gynecol , vol.156 , pp. 308-312
    • Sermer, M.1    Benzie, R.J.2    Pitson, L.3    Carr, M.4    Skidmore, M.5
  • 68
    • 0027331380 scopus 로고
    • Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring
    • Alvarado M, Bass HN, Caldwell S, Jamehdor M, Miller AA, Jacob P. Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. Am J Dis Child 1993;147:1291-4.
    • (1993) Am J Dis Child , vol.147 , pp. 1291-1294
    • Alvarado, M.1    Bass, H.N.2    Caldwell, S.3    Jamehdor, M.4    Miller, A.A.5    Jacob, P.6
  • 69
    • 0030949434 scopus 로고    scopus 로고
    • Omphalocele in Miller-Dieker syndrome: Expanding the phenotype
    • Chitayat D, Toi A, Babul R, et al. Omphalocele in Miller-Dieker syndrome: expanding the phenotype. Am J Med Genet 1997;69:293-8.
    • (1997) Am J Med Genet , vol.69 , pp. 293-298
    • Chitayat, D.1    Toi, A.2    Babul, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.