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Volumn 8, Issue 2, 1996, Pages 130-134

Advances in molecular diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME LOSS; CLINICAL PROTOCOL; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIGEORGE SYNDROME; DNA DETERMINATION; GENE DELETION; GENETIC LINKAGE; GENETIC SCREENING; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; METABOLIC DISORDER; PATHOGENESIS; PRADER WILLI SYNDROME; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; WILLIAMS BEUREN SYNDROME;

EID: 0029917726     PISSN: 1040872X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001703-199604000-00010     Document Type: Review
Times cited : (4)

References (24)
  • 2
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    • Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome
    • Borg I, Delhanty JDA, Baraitser M: Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. J Med Genet 1995, 32:692-696.
    • (1995) J Med Genet , vol.32 , pp. 692-696
    • Borg, I.1    Delhanty, J.D.A.2    Baraitser, M.3
  • 4
    • 0028861863 scopus 로고
    • Angelman syndrome: Validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection
    • White L, Knoll JHM: Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. Am J Med Genet 1995, 56:101-105.
    • (1995) Am J Med Genet , vol.56 , pp. 101-105
    • White, L.1    Knoll, J.H.M.2
  • 10
    • 0029162269 scopus 로고
    • Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
    • Ledbetter DH, Engel E: Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995, 4:1757-1764.
    • (1995) Hum Mol Genet , vol.4 , pp. 1757-1764
    • Ledbetter, D.H.1    Engel, E.2
  • 11
    • 0028296373 scopus 로고
    • Dystrophin and DNA diagnosis in a large pediatric muscle clinic
    • Richards S, Iannaccone ST: Dystrophin and DNA diagnosis in a large pediatric muscle clinic. J Child Neural 1994, 9:162-166.
    • (1994) J Child Neural , vol.9 , pp. 162-166
    • Richards, S.1    Iannaccone, S.T.2
  • 14
    • 0028025477 scopus 로고
    • Experience with 500 prenatal diagnoses of sickle cell disease: The effect of gestational age on affected pregnancy outcome
    • Wang X, Seaman C, Paik M, Chen T, Bank A, Piomelli S: Experience with 500 prenatal diagnoses of sickle cell disease: the effect of gestational age on affected pregnancy outcome. Prenat Diagn 1994, 14:851-857.
    • (1994) Prenat Diagn , vol.14 , pp. 851-857
    • Wang, X.1    Seaman, C.2    Paik, M.3    Chen, T.4    Bank, A.5    Piomelli, S.6
  • 16
    • 0029020724 scopus 로고
    • The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
    • Gardner RJ, Bobrow M, Roberts RG: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 1995, 57:311-320.
    • (1995) Am J Hum Genet , vol.57 , pp. 311-320
    • Gardner, R.J.1    Bobrow, M.2    Roberts, R.G.3
  • 18


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.