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Volumn 28, Issue 6, 2008, Pages 556-558

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening

Author keywords

MLPA; Prenatal diagnosis; Williams syndrome

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING TEST; SHORT TANDEM REPEAT; WILLIAMS BEUREN SYNDROME;

EID: 46749132814     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2020     Document Type: Article
Times cited : (12)

References (14)
  • 2
    • 0036141877 scopus 로고    scopus 로고
    • Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome
    • DeSilva U, Elnitski L, Idol JR, et al. 2002. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. Genome Res 12: 3-15.
    • (2002) Genome Res , vol.12 , pp. 3-15
    • DeSilva, U.1    Elnitski, L.2    Idol, J.R.3
  • 3
    • 34547786121 scopus 로고    scopus 로고
    • MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages
    • Diego-Alvarez D, de Alba MR, Cardero-Merlo R, et al. 2007. MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages. Prenat Diagn 27: 765-771.
    • (2007) Prenat Diagn , vol.27 , pp. 765-771
    • Diego-Alvarez, D.1    de Alba, M.R.2    Cardero-Merlo, R.3
  • 4
    • 0033659013 scopus 로고    scopus 로고
    • Williams syndrome: From genotype through to the cognitive phenotype
    • Donnai D, Karmiloff-Smith A. 2000. Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet 97: 164-171.
    • (2000) Am J Med Genet , vol.97 , pp. 164-171
    • Donnai, D.1    Karmiloff-Smith, A.2
  • 5
    • 0036344319 scopus 로고    scopus 로고
    • Cardiovascular manifestations in 75 patients with Williams syndrome
    • Eronen M, Peippo M, Hiippala A, et al. 2002. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 39: 554-558.
    • (2002) J Med Genet , vol.39 , pp. 554-558
    • Eronen, M.1    Peippo, M.2    Hiippala, A.3
  • 6
    • 0027185655 scopus 로고
    • Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
    • Ewart AK, Morris CA, Atkinson D, et al. 1993. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5: 11-16.
    • (1993) Nat Genet , vol.5 , pp. 11-16
    • Ewart, A.K.1    Morris, C.A.2    Atkinson, D.3
  • 7
    • 13544268702 scopus 로고    scopus 로고
    • Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
    • Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C. 2005. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet 13: 171-175.
    • (2005) Eur J Hum Genet , vol.13 , pp. 171-175
    • Gerdes, T.1    Kirchhoff, M.2    Lind, A.M.3    Larsen, G.V.4    Schwartz, M.5    Lundsteen, C.6
  • 8
    • 33645117093 scopus 로고    scopus 로고
    • Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
    • Howald C, Merla G, Digilio MC, et al. 2006. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet 43: 266-273.
    • (2006) J Med Genet , vol.43 , pp. 266-273
    • Howald, C.1    Merla, G.2    Digilio, M.C.3
  • 9
    • 0029015848 scopus 로고
    • Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
    • 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.
    • (1995) Am J Hum Genet , vol.57 , pp. 49-53
    • Lowery, M.C.1    Morris, C.A.2    Ewart, A.3
  • 10
    • 0029931944 scopus 로고    scopus 로고
    • Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome
    • Pankau R, Partsch C-J, Winter M, Gosch A, Wessel A. 1996. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 63: 301-304.
    • (1996) Am J Med Genet , vol.63 , pp. 301-304
    • Pankau, R.1    Partsch, C.-J.2    Winter, M.3    Gosch, A.4    Wessel, A.5
  • 12
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • Shaw CJ, Lupski JR. 2004. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13: R57-R64.
    • (2004) Hum Mol Genet , vol.13
    • Shaw, C.J.1    Lupski, J.R.2
  • 14
    • 35348939636 scopus 로고    scopus 로고
    • Comparing two diagnostic laboratory tests for Williams syndrome: Fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification
    • van Hagen JM, Eussen HJ, van Schooten R, et al. 2007. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. Genet Test 11: 321-327.
    • (2007) Genet Test , vol.11 , pp. 321-327
    • van Hagen, J.M.1    Eussen, H.J.2    van Schooten, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.