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Volumn 31, Issue 9, 2011, Pages 912-914

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

Author keywords

15qter; Array CGH; Congenital diaphragmatic hernia; Prenatal

Indexed keywords

SOMATOMEDIN C RECEPTOR;

EID: 80051930601     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2793     Document Type: Article
Times cited : (14)

References (19)
  • 1
    • 0034677216 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)
    • Aviram-Goldring A, Daniely M, Frydman M, Shneyour Y, Cohen H, Barkai G. 2000. Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24). Am J Med Genet 90: 120-122.
    • (2000) Am J Med Genet , vol.90 , pp. 120-122
    • Aviram-Goldring, A.1    Daniely, M.2    Frydman, M.3    Shneyour, Y.4    Cohen, H.5    Barkai, G.6
  • 3
    • 42049119837 scopus 로고    scopus 로고
    • Gene expression in the developing diaphragm: significance for congenital diaphragmatic hernia
    • Clugston RD, Zhang W, Greer JJ. 2008. Gene expression in the developing diaphragm: significance for congenital diaphragmatic hernia. Am J Physiol Lung Cell Mol Physiol 294: L665-L675.
    • (2008) Am J Physiol Lung Cell Mol Physiol , vol.294
    • Clugston, R.D.1    Zhang, W.2    Greer, J.J.3
  • 4
    • 78650877978 scopus 로고    scopus 로고
    • Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2-> qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure
    • Choi JH, Kang M, Kim GH, et al. 2011. Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2-> qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure. J Clin Endocrinol Metab 96: E130-E134.
    • (2011) J Clin Endocrinol Metab , vol.96
    • Choi, J.H.1    Kang, M.2    Kim, G.H.3
  • 5
    • 8344264679 scopus 로고    scopus 로고
    • Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature
    • Hengstschlager M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G. 2004. Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature. Fetal Diagn Ther 19: 510-512.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 510-512
    • Hengstschlager, M.1    Mittermayer, C.2    Repa, C.3    Drahonsky, R.4    Deutinger, J.5    Bernaschek, G.6
  • 7
    • 20244372562 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
    • Klaassens M, van Dooren M, Eussen HJ, et al. 2005. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76: 877-882.
    • (2005) Am J Hum Genet , vol.76 , pp. 877-882
    • Klaassens, M.1    van Dooren, M.2    Eussen, H.J.3
  • 8
    • 33745608242 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia associated with duplication of 11q23-qter
    • Klaassens M, Scott DA, van Dooren M, et al. 2006. Congenital diaphragmatic hernia associated with duplication of 11q23-qter. Am J Med Genet 140: 1580-1586.
    • (2006) Am J Med Genet , vol.140 , pp. 1580-1586
    • Klaassens, M.1    Scott, D.A.2    van Dooren, M.3
  • 9
    • 38449100510 scopus 로고    scopus 로고
    • Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature
    • Klaassens M, Galjaard RJ, Scott DA, et al. 2007. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. Am J Med Genet A 143: 2204-2212.
    • (2007) Am J Med Genet A , vol.143 , pp. 2204-2212
    • Klaassens, M.1    Galjaard, R.J.2    Scott, D.A.3
  • 10
    • 79952484999 scopus 로고    scopus 로고
    • Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect
    • Jaillard S, Loget P, Lucas J, et al. 2010. Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect. Eur J Med Genet 27: 186-188.
    • (2010) Eur J Med Genet , vol.27 , pp. 186-188
    • Jaillard, S.1    Loget, P.2    Lucas, J.3
  • 11
    • 33745587820 scopus 로고    scopus 로고
    • Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects
    • Lopez I, Bafalliu JA, Bernabe MC, Garcia F, Costa M, Guillen-Navarro E. 2006. Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects. Prenat Diagn 26: 577-580.
    • (2006) Prenat Diagn , vol.26 , pp. 577-580
    • Lopez, I.1    Bafalliu, J.A.2    Bernabe, M.C.3    Garcia, F.4    Costa, M.5    Guillen-Navarro, E.6
  • 12
    • 25644434981 scopus 로고    scopus 로고
    • Infants with Bochdalek diaphragmatic hernia: sibling precurrence (sic) and monozygotic twin discordance in a hospital-based malformation surveillance program
    • Pober BR, Lin A, Russell M, et al. 2005. Infants with Bochdalek diaphragmatic hernia: sibling precurrence (sic) and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet 138: 81-88.
    • (2005) Am J Med Genet , vol.138 , pp. 81-88
    • Pober, B.R.1    Lin, A.2    Russell, M.3
  • 13
    • 34249063569 scopus 로고    scopus 로고
    • Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
    • Pober BR. 2007. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 145: 158-71.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145 , pp. 158-171
    • Pober, B.R.1
  • 14
    • 0035005199 scopus 로고    scopus 로고
    • Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development
    • Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E. 2001. Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn 21: 289-292.
    • (2001) Prenat Diagn , vol.21 , pp. 289-292
    • Schlembach, D.1    Zenker, M.2    Trautmann, U.3    Ulmer, R.4    Beinder, E.5
  • 15
    • 24944579579 scopus 로고    scopus 로고
    • Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
    • Slavotinek A, Lee SS, Davis R, et al. 2005. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 42: 730-736.
    • (2005) J Med Genet , vol.42 , pp. 730-736
    • Slavotinek, A.1    Lee, S.S.2    Davis, R.3
  • 16
    • 33747768579 scopus 로고    scopus 로고
    • Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2
    • Slavotinek AM, Moshrefi A, Davis R, et al. 2006. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 14: 999-1008.
    • (2006) Eur J Hum Genet , vol.14 , pp. 999-1008
    • Slavotinek, A.M.1    Moshrefi, A.2    Davis, R.3
  • 17
    • 78649655581 scopus 로고    scopus 로고
    • Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)
    • Srisupundit K, Brady PD, Devriendt K, et al. 2010. Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn 30: 1198-1206.
    • (2010) Prenat Diagn , vol.30 , pp. 1198-1206
    • Srisupundit, K.1    Brady, P.D.2    Devriendt, K.3
  • 19
    • 28044455227 scopus 로고    scopus 로고
    • Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia
    • You LR, Takamoto N, Yu CT, et al. 2005. Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci U S A 102: 16351-16356.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 16351-16356
    • You, L.R.1    Takamoto, N.2    Yu, C.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.