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Volumn 34, Issue 5, 1997, Pages 414-417

Chromosome 18q22.2→qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects

Author keywords

Congenital anomaly syndrome; Deletion 18q22.2 qter; Multiple vertebral segmentation defects

Indexed keywords

APLASIA; ARTICLE; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CONGENITAL DISORDER; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FEMALE; GENE DELETION; GENE FUNCTION; GENE MAPPING; HUMAN; HUMAN CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; SOLITARY KIDNEY; SOMITE; SPINE MALFORMATION; TISSUE INDUCTION; VERTEBRA MALFORMATION;

EID: 0031009601     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.5.414     Document Type: Article
Times cited : (27)

References (17)
  • 1
    • 0002913646 scopus 로고
    • The 18p-, 18q-, and 18r syndromes
    • DeGrouchy J. The 18p-, 18q-, and 18r syndromes. Birth Defects 1969;5(5):74-87.
    • (1969) Birth Defects , vol.5 , Issue.5 , pp. 74-87
    • DeGrouchy, J.1
  • 2
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 3
    • 0028231090 scopus 로고
    • The 1993-94 Généthon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7:246.
    • (1994) Nat Genet , vol.7 , pp. 246
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 4
    • 0001741191 scopus 로고
    • Hereditary malformations of the vertebral bodies
    • Jarcho S, Levin PM. Hereditary malformations of the vertebral bodies. Bull Johns Hopkins Hosp 1938;62:216-26.
    • (1938) Bull Johns Hopkins Hosp , vol.62 , pp. 216-226
    • Jarcho, S.1    Levin, P.M.2
  • 5
    • 0030064549 scopus 로고    scopus 로고
    • Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
    • Mortier GR, Lachman RS, Bocian M, Rimoin DL. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet 1996;61:310-19.
    • (1996) Am J Med Genet , vol.61 , pp. 310-319
    • Mortier, G.R.1    Lachman, R.S.2    Bocian, M.3    Rimoin, D.L.4
  • 6
    • 0029035611 scopus 로고
    • Hoxc-9 mutant mice show anterior transformation of the vetebrae and malformation of the sternum and ribs
    • Suemori H, Takahashi N, Noguchi S. Hoxc-9 mutant mice show anterior transformation of the vetebrae and malformation of the sternum and ribs. Mech Dev 1995;51:265-73.
    • (1995) Mech Dev , vol.51 , pp. 265-273
    • Suemori, H.1    Takahashi, N.2    Noguchi, S.3
  • 7
    • 0027422825 scopus 로고
    • Molecular analysis of the 18q- Syndrome - and correlation with phenotype
    • Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q- syndrome - and correlation with phenotype. Am J Hum Genet 1991;52:895-906.
    • (1991) Am J Hum Genet , vol.52 , pp. 895-906
    • Kline, A.D.1    White, M.E.2    Wapner, R.3
  • 8
    • 0017857271 scopus 로고
    • Le syndrome de dysostose spondylothoracique ou spondylocostale
    • Bonaime JL, Bonne B, Joannard A, et al. Le syndrome de dysostose spondylothoracique ou spondylocostale. Pediatrie 1978;33:173-88.
    • (1978) Pediatrie , vol.33 , pp. 173-188
    • Bonaime, J.L.1    Bonne, B.2    Joannard, A.3
  • 9
    • 0014956566 scopus 로고
    • Bizarre deformities in offspring of user of lysergic acid diethylamide
    • Eller JL, Morton JM. Bizarre deformities in offspring of user of lysergic acid diethylamide. N Engl J Med 1970;283:395-7.
    • (1970) N Engl J Med , vol.283 , pp. 395-397
    • Eller, J.L.1    Morton, J.M.2
  • 10
    • 0025968759 scopus 로고
    • Spondylocostal dysplasia and neural tube defects
    • Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects. J Med Genet 1991;28:51-3.
    • (1991) J Med Genet , vol.28 , pp. 51-53
    • Giacoia, G.P.1    Say, B.2
  • 11
    • 0025822651 scopus 로고
    • Jarcho-Levin syndrome: Four new cases and classification of subtypes
    • Karnes PS, Day D, Berry SA, Pierpont MEM. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet 1991;40:264-70.
    • (1991) Am J Med Genet , vol.40 , pp. 264-270
    • Karnes, P.S.1    Day, D.2    Berry, S.A.3    Pierpont, M.E.M.4
  • 12
    • 0027158498 scopus 로고
    • Another case of spondylocostal dysplasia and severe anomalies
    • Lin AE, Harster GA. Another case of spondylocostal dysplasia and severe anomalies. Am J Med Genet 1993;46:476-7.
    • (1993) Am J Med Genet , vol.46 , pp. 476-477
    • Lin, A.E.1    Harster, G.A.2
  • 13
    • 0026524452 scopus 로고
    • Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys
    • Murr MM, Waziri MH, Schelper RL, Abu-Youself M. Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. Am J Med Genet 1992;42:761-5.
    • (1992) Am J Med Genet , vol.42 , pp. 761-765
    • Murr, M.M.1    Waziri, M.H.2    Schelper, R.L.3    Abu-Youself, M.4
  • 14
    • 0028987089 scopus 로고
    • The 18q-syndrome: Analysis of chromosomes by bivariate flow karyotyping of the PRC reveals a successive set of deletion breakpoints within 18q21.2-q22.2
    • Silverman GA, Schneider SS, Massa HF, et al. The 18q-syndrome: analysis of chromosomes by bivariate flow karyotyping of the PRC reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet 1995;56:926-37.
    • (1995) Am J Hum Genet , vol.56 , pp. 926-937
    • Silverman, G.A.1    Schneider, S.S.2    Massa, H.F.3
  • 16
    • 0014510819 scopus 로고
    • Spondylothoracic dysplasia - A syndrome of congenital anomalies
    • Moseley JE, Bonforte RJ. Spondylothoracic dysplasia - a syndrome of congenital anomalies. AJR 1969;106:166-9.
    • (1969) AJR , vol.106 , pp. 166-169
    • Moseley, J.E.1    Bonforte, R.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.