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Volumn 82, Issue 3, 1999, Pages 249-253

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes

Author keywords

Chromosome deletion 1p; Fluorescent in situ hybridization (FISH); Submicroscopic deletion

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC SCREENING; HEMIZYGOSITY; HUMAN; MALFORMATION SYNDROME; PRIORITY JOURNAL;

EID: 0033613986     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990129)82:3<249::AID-AJMG10>3.0.CO;2-8     Document Type: Article
Times cited : (63)

References (13)
  • 1
    • 0029817911 scopus 로고    scopus 로고
    • Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis
    • Blennow E, Bui TH, Wallin A, Kogner P. 1996. Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. Am J Med Genet 65:60-67.
    • (1996) Am J Med Genet , vol.65 , pp. 60-67
    • Blennow, E.1    Bui, T.H.2    Wallin, A.3    Kogner, P.4
  • 6
    • 0019217574 scopus 로고
    • The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation
    • Hain D, Leversha M, Campbell N, Daniel A, Barr PA, Rogers JG. 1980. The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation. Aust Paediatr J 16:196-200.
    • (1980) Aust Paediatr J , vol.16 , pp. 196-200
    • Hain, D.1    Leversha, M.2    Campbell, N.3    Daniel, A.4    Barr, P.A.5    Rogers, J.G.6
  • 8
    • 0030960829 scopus 로고    scopus 로고
    • Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
    • Knight SJL, Horsley SW, Regan R, Lawrie NM, Maher EJ, Cardy JLN, Flint J, Kearney L. 1997. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 5:1-8.
    • (1997) Eur J Hum Genet , vol.5 , pp. 1-8
    • Knight, S.J.L.1    Horsley, S.W.2    Regan, R.3    Lawrie, N.M.4    Maher, E.J.5    Cardy, J.L.N.6    Flint, J.7    Kearney, L.8
  • 9
    • 0028861983 scopus 로고
    • Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome
    • Reish O, Berry SA, Hirsch B. 1995. Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome. Am J Med Genet 59:467-475.
    • (1995) Am J Med Genet , vol.59 , pp. 467-475
    • Reish, O.1    Berry, S.A.2    Hirsch, B.3
  • 12
    • 0021369911 scopus 로고
    • The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1
    • Steele MW, Wenger SL, Geweke LO, Golden WL. 1984. The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1. Clin Genet 25:59-62.
    • (1984) Clin Genet , vol.25 , pp. 59-62
    • Steele, M.W.1    Wenger, S.L.2    Geweke, L.O.3    Golden, W.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.