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Volumn 16, Issue 4, 2005, Pages 429-432

Distal 3p monosomy associated with epilepsy in a boy [4]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 3P; CHROMOSOME DELETION; CLINICAL FEATURE; CRYPTORCHISM; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EPICANTHUS; EPILEPSY; FRONTAL BOSSING; GROWTH RETARDATION; HUMAN; HYDRONEPHROSIS; HYPERTELORISM; HYPERTRICHOSIS; KARYOTYPE 46,XY; LETTER; LOW SET EAR; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; MONOSOMY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PNEUMONIA; PTOSIS; SCHOOL CHILD; SEIZURE; ADULT; ANTICONVULSANT THERAPY; BODY WEIGHT; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; DISEASE ASSOCIATION; EPILEPTOGENESIS; GENE EXPRESSION; PREGNANCY; ULTRASOUND;

EID: 30444461366     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (5)

References (12)
  • 2
    • 0032705747 scopus 로고    scopus 로고
    • 46,XY,del(3)(pter→p25) syndrome: Further delineation of the clinical phenotype
    • BENINI D., VINO L., VECCHINI S., FANOS V.: 46,XY,del(3)(pter→p25) syndrome: further delineation of the clinical phenotype. Eur. J. Pediatr., 1999, 158, 955-957.
    • (1999) Eur. J. Pediatr. , vol.158 , pp. 955-957
    • Benini, D.1    Vino, L.2    Vecchini, S.3    Fanos, V.4
  • 5
    • 2442641704 scopus 로고    scopus 로고
    • Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome
    • FERNANDEZ T., MORGAN T., DAVIS N., KLIN A., MORRIS A., FARHI A., LIFTON R.P., STATE M.W.: Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am. J. Hum. Genet., 2004, 74, 1286-1293.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 1286-1293
    • Fernandez, T.1    Morgan, T.2    Davis, N.3    Klin, A.4    Morris, A.5    Farhi, A.6    Lifton, R.P.7    State, M.W.8
  • 6
    • 9244233139 scopus 로고
    • Chromosome 3, monosomy 3p2
    • M.L Buyse ed. Cambridge, Blackwell Scientific Publications
    • FRYNS J.P.: Chromosome 3, monosomy 3p2. In: Birth Defects Encyclopedia. M.L Buyse ed. Cambridge, Blackwell Scientific Publications, 1990, 332.
    • (1990) Birth Defects Encyclopedia , pp. 332
    • Fryns, J.P.1
  • 7
    • 0041883775 scopus 로고    scopus 로고
    • Aberrant neuronal connectivity in CHL1-deficient mice is associated with altered information processing-related immediate early gene expression
    • MONTAG-SALLAZ M., BAARKE A., MONTAG D.: Aberrant neuronal connectivity in CHL1-deficient mice is associated with altered information processing-related immediate early gene expression. J. Neurobiol., 2003, 57, 67-80.
    • (2003) J. Neurobiol. , vol.57 , pp. 67-80
    • Montag-Sallaz, M.1    Baarke, A.2    Montag, D.3
  • 9
    • 0026457860 scopus 로고
    • Infant with del(3)(p25-pter): Karyotype-phenotype correlation and review of previously reported cases
    • NIENHAUS H., MAU U., ZANG K.D.: Infant with del(3)(p25-pter): karyotype-phenotype correlation and review of previously reported cases. Am. J. Med. Genet., 1992, 44, 573-575.
    • (1992) Am. J. Med. Genet. , vol.44 , pp. 573-575
    • Nienhaus, H.1    Mau, U.2    Zang, K.D.3
  • 12
    • 0021881770 scopus 로고
    • Partial deletion of the short arm of chromosome 3 (3p25→3pter): Further delineation of the clinical phenotype
    • WITT D.R., BIEDERMANN B., HALL J.G.: Partial deletion of the short arm of chromosome 3 (3p25→3pter): further delineation of the clinical phenotype. Clin. Genet., 1985, 27, 402-407.
    • (1985) Clin. Genet. , vol.27 , pp. 402-407
    • Witt, D.R.1    Biedermann, B.2    Hall, J.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.