메뉴 건너뛰기




Volumn 140 A, Issue 1, 2006, Pages 17-23

Erratum: Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (American Journal of Medical Genetics (2006) 140A (17-23) DOI: 10.1002/ajmg.a.31025);Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

Author keywords

Array based comparative genomic hybridization (aCGH); Chromosome 1q4l q42.12 deletion; Congenital diaphragmatic hernia; FISH; Fryns syndrome

Indexed keywords

ARRAY BASED COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; CHROMOSOME 1Q; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; FRYNS SYNDROME; GENE DELETION; GENE LOCUS; GENE SEQUENCE; HUMAN; HUMAN TISSUE; KARYOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 30144437475     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31207     Document Type: Erratum
Times cited : (66)

References (37)
  • 3
    • 0025356103 scopus 로고
    • Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)
    • Cohn DH, Starman BJ, Blumberg B, Byers PH. 1990. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet 46:591-601.
    • (1990) Am J Hum Genet , vol.46 , pp. 591-601
    • Cohn, D.H.1    Starman, B.J.2    Blumberg, B.3    Byers, P.H.4
  • 5
    • 0023202062 scopus 로고
    • Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia
    • Fryns JP. 1987. Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet 24:271-274.
    • (1987) J Med Genet , vol.24 , pp. 271-274
    • Fryns, J.P.1
  • 6
    • 0018305302 scopus 로고
    • A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
    • Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H. 1979. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50: 65-70.
    • (1979) Hum Genet , vol.50 , pp. 65-70
    • Fryns, J.P.1    Moerman, F.2    Goddeeris, P.3    Bossuyt, C.4    Van Den Berghe, H.5
  • 9
    • 0034754559 scopus 로고    scopus 로고
    • High resolution comparative genomic hybridisation in clinical cytogenetics
    • Kirchhoff M, Rose H, Lundsteen C. 2001. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 38:740-744.
    • (2001) J Med Genet , vol.38 , pp. 740-744
    • Kirchhoff, M.1    Rose, H.2    Lundsteen, C.3
  • 11
    • 28444496732 scopus 로고    scopus 로고
    • Cardiovascular malformations in Fryns Syndrome: Is there a pathogenic role for Neural Crest cells?
    • In press
    • Lin AE, Pober BR, Mullen MP, Slavotinek AM. 2005. Cardiovascular malformations in Fryns Syndrome: Is there a pathogenic role for Neural Crest cells? Am J Med Genet (In press).
    • (2005) Am J Med Genet
    • Lin, A.E.1    Pober, B.R.2    Mullen, M.P.3    Slavotinek, A.M.4
  • 12
    • 0141783992 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice
    • Liu J, Zhang L, Wang D, Shen H, Jiang M, Mei P, Hayden PS, Sedor JR, Hu H. 2003. Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice. Mech Dev 120:1059-1070.
    • (2003) Mech Dev , vol.120 , pp. 1059-1070
    • Liu, J.1    Zhang, L.2    Wang, D.3    Shen, H.4    Jiang, M.5    Mei, P.6    Hayden, P.S.7    Sedor, J.R.8    Hu, H.9
  • 14
    • 0027279819 scopus 로고
    • Campomelic dysplasia: Evidence of autosomal dominant inheritance
    • Lynch SA, Gaunt ML, Minford AM. 1993. Campomelic dysplasia: Evidence of autosomal dominant inheritance. J Med Genet 30:683-686.
    • (1993) J Med Genet , vol.30 , pp. 683-686
    • Lynch, S.A.1    Gaunt, M.L.2    Minford, A.M.3
  • 15
    • 0022369562 scopus 로고
    • The Fryns syndrome: Diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance
    • Meinecke P, Fryns JP. 1985. The Fryns syndrome: Diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet 28:516-520.
    • (1985) Clin Genet , vol.28 , pp. 516-520
    • Meinecke, P.1    Fryns, J.P.2
  • 16
    • 0024269679 scopus 로고
    • The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome
    • Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM. 1988. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet 31:805-814.
    • (1988) Am J Med Genet , vol.31 , pp. 805-814
    • Moerman, P.1    Fryns, J.P.2    Vandenberghe, K.3    Devlieger, H.4    Lauweryns, J.M.5
  • 17
    • 0027228360 scopus 로고
    • Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism
    • Petrella R, Rabinowitz JG, Steinmann B, Hirschhorn K. 1993. Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. Am J Med Genet 47:187-197.
    • (1993) Am J Med Genet , vol.47 , pp. 187-197
    • Petrella, R.1    Rabinowitz, J.G.2    Steinmann, B.3    Hirschhorn, K.4
  • 19
  • 21
    • 0030610784 scopus 로고    scopus 로고
    • The epidemiology of diaphragmatic hernia
    • Robert E, Kallen B, Harris J. 1997. The epidemiology of diaphragmatic hernia. Eur J Epidemiol 13:665-673.
    • (1997) Eur J Epidemiol , vol.13 , pp. 665-673
    • Robert, E.1    Kallen, B.2    Harris, J.3
  • 22
    • 4243901594 scopus 로고
    • Interstitial deletion of the long arm of chromosome 1: Del(1)(pter → 42.11::q42.3 → qter)
    • Rogers JC, Harris DJ, Pasztor LM. 1995. Interstitial deletion of the long arm of chromosome 1: del(1)(pter → 42.11::q42.3 → qter). Am J Hum Genet 57:A125.
    • (1995) Am J Hum Genet , vol.57
    • Rogers, J.C.1    Harris, D.J.2    Pasztor, L.M.3
  • 23
    • 0023101778 scopus 로고
    • Fryns syndrome in a girl born to consanguineous parents
    • Schwyzer U, Briner J, Schinzel A. 1987. Fryns syndrome in a girl born to consanguineous parents. Acta Paediatr Scand 76:167-171.
    • (1987) Acta Paediatr Scand , vol.76 , pp. 167-171
    • Schwyzer, U.1    Briner, J.2    Schinzel, A.3
  • 25
    • 11144356173 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features
    • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features. J Med Genet 41: 241-248.
    • (2004) J Med Genet , vol.41 , pp. 241-248
    • Shaw-Smith, C.1    Redon, R.2    Rickman, L.3    Rio, M.4    Willatt, L.5    Fiegler, H.6    Firth, H.7    Sanlaville, D.8    Winter, R.9    Colleaux, L.10    Bobrow, M.11    Carter, N.P.12
  • 26
    • 0942279747 scopus 로고    scopus 로고
    • Fryns syndrome: A review of the phenotype and diagnostic guidelines
    • Slavotinek AM. 2004. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet 124A:427-433.
    • (2004) Am J Med Genet , vol.124 A , pp. 427-433
    • Slavotinek, A.M.1
  • 27
    • 20444445000 scopus 로고    scopus 로고
    • The genetics of congenital diaphragmatic hernia
    • Slavotinek AM. 2005. The genetics of congenital diaphragmatic hernia. Semin Perinatol 29:77-85.
    • (2005) Semin Perinatol , vol.29 , pp. 77-85
    • Slavotinek, A.M.1
  • 28
    • 30144434150 scopus 로고    scopus 로고
    • Detection of submicroscopic chromosome aberrations and DNA sequence variants in congenital diaphragmatic hernia patients using array comparative genomic hybridization
    • Slavotinek AM, Davis R, Leeth E, Keller RL, Nobuhara KK. 2005a. Detection of submicroscopic chromosome aberrations and DNA sequence variants in congenital diaphragmatic hernia patients using array comparative genomic hybridization. 26th Annual DW Smith Workshop August 2-5, 2005.
    • (2005) 26th Annual DW Smith Workshop August 2-5, 2005
    • Slavotinek, A.M.1    Davis, R.2    Leeth, E.3    Keller, R.L.4    Nobuhara, K.K.5
  • 30
    • 0028020923 scopus 로고
    • Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation
    • Smith SA, Martin KE, Dodd KL, Young ID. 1994. Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin Dysmorphol 3:287-291.
    • (1994) Clin Dysmorphol , vol.3 , pp. 287-291
    • Smith, S.A.1    Martin, K.E.2    Dodd, K.L.3    Young, I.D.4
  • 31
    • 0030449719 scopus 로고    scopus 로고
    • Etiologic and genetic factors in congenital diaphragmatic hernia
    • Tibboel D, Gaag AV. 1996. Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol 23:689-699.
    • (1996) Clin Perinatol , vol.23 , pp. 689-699
    • Tibboel, D.1    Gaag, A.V.2
  • 33
    • 0027092777 scopus 로고
    • A population-based study of congenital diaphragmatic hernia
    • Torfs CP, Curry CJ, Bateson TF, Honore LH. 1992. A population-based study of congenital diaphragmatic hernia. Teratology 46:555-565.
    • (1992) Teratology , vol.46 , pp. 555-565
    • Torfs, C.P.1    Curry, C.J.2    Bateson, T.F.3    Honore, L.H.4
  • 36
    • 0023938890 scopus 로고
    • Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: Assignment of a human ferritin gene
    • Youssoufian H, Chance P, Tuck-Muller CM, Jabs EW. 1988. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: Assignment of a human ferritin gene. Hum Genet 78:267-270.
    • (1988) Hum Genet , vol.78 , pp. 267-270
    • Youssoufian, H.1    Chance, P.2    Tuck-Muller, C.M.3    Jabs, E.W.4
  • 37
    • 0038642076 scopus 로고    scopus 로고
    • A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3
    • Yuan W, Rao Y, Babiuk RP, Greer JJ, Wu JY, Ornitz DM. 2003. A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. Proc Natl Acad Sci USA 100:5217-5222.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 5217-5222
    • Yuan, W.1    Rao, Y.2    Babiuk, R.P.3    Greer, J.J.4    Wu, J.Y.5    Ornitz, D.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.