-
1
-
-
0030950952
-
Preferential loss of the paternal alleles in the 18q-syndrome
-
CODY J.D., PIERCE J.F., BRKANAC Z., PLAETKE R., GHIDONI P.D., KAYE C.I., LEACH R.J.: Preferential loss of the paternal alleles in the 18q-syndrome. Am. J. Med. Genet., 1997, 69, 280-286.
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 280-286
-
-
Cody, J.D.1
Pierce, J.F.2
Brkanac, Z.3
Plaetke, R.4
Ghidoni, P.D.5
Kaye, C.I.6
Leach, R.J.7
-
2
-
-
0033609907
-
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q
-
CODY J.D., GHIDONI P.D., DUPONT B.R., HALE D.E., HILSENBECK S.G., STRATTON R.F., HOFFMAN D.S., MULLER S., SCHAUB R.L., LEACH R.J., KAYE C.I.: Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am. J. Med. Genet., 1999, 85, 455-462.
-
(1999)
Am. J. Med. Genet.
, vol.85
, pp. 455-462
-
-
Cody, J.D.1
Ghidoni, P.D.2
Dupont, B.R.3
Hale, D.E.4
Hilsenbeck, S.G.5
Stratton, R.F.6
Hoffman, D.S.7
Muller, S.8
Schaub, R.L.9
Leach, R.J.10
Kaye, C.I.11
-
3
-
-
0001441096
-
Délétion partielle du bras long du chromosome 18
-
DE GROUCHY J., ROYER P., SALMON C., LAMY M.: Délétion partielle du bras long du chromosome 18. Pathol. Biol., 1964, 12, 579-582.
-
(1964)
Pathol. Biol.
, vol.12
, pp. 579-582
-
-
De Grouchy, J.1
Royer, P.2
Salmon, C.3
Lamy, M.4
-
4
-
-
0018414408
-
18q- syndrome in mother and daughter
-
FRYNS J.P., LOGGHE N., VAN EYGEN M., VAN DEN BERGHE H.: 18q- syndrome in mother and daughter. Eur. J. Pediatr., 1979, 130, 189-192.
-
(1979)
Eur. J. Pediatr.
, vol.130
, pp. 189-192
-
-
Fryns, J.P.1
Logghe, N.2
Van Eygen, M.3
Van Den Berghe, H.4
-
5
-
-
0001543372
-
Chromosome 18, monosomy 18q
-
M.L. Buyse (ed). Cambridge, Blackwell Scientific Publications
-
GREENBERG F.: Chromosome 18, monosomy 18q. In: Birth Defect Encyclopedia. M.L. Buyse (ed). Cambridge, Blackwell Scientific Publications, 1990, 382-383.
-
(1990)
Birth Defect Encyclopedia
, pp. 382-383
-
-
Greenberg, F.1
-
6
-
-
0027422825
-
Molecular analysis of the 18q- Syndrome and correlation with phenotype
-
KLINE A.D., WHITE M.E., WAPNER R., ROJAS K., BIESECKER L.G., KAMHOLZ J., ZACKAI E.H., MUENKE M., SCOTT C.I.JR., OVERHAUSER J.: Molecular analysis of the 18q- syndrome and correlation with phenotype. Am. J. Hum. Genet., 1993, 52, 895-906.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 895-906
-
-
Kline, A.D.1
White, M.E.2
Wapner, R.3
Rojas, K.4
Biesecker, L.G.5
Kamholz, J.6
Zackai, E.H.7
Muenke, M.8
Scott Jr., C.I.9
Overhauser, J.10
-
7
-
-
0028987089
-
The 18q- Syndrome: Analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2
-
SILVERMAN G.A., SCHNEIDER S.S., MASSA H.F., FLINT A., LALANDE M., LEONARD J.C., OVERHAUSER J., VAN DEN ENGH G., TRASK B.J.: The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am. J. Hum. Genet., 1995, 56, 926-937.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 926-937
-
-
Silverman, G.A.1
Schneider, S.S.2
Massa, H.F.3
Flint, A.4
Lalande, M.5
Leonard, J.C.6
Overhauser, J.7
Van Den Engh, G.8
Trask, B.J.9
-
8
-
-
0028871377
-
Analysis of clinical variation seen in patients with 18q terminal deletions
-
STRATHDEE G., ZACKAI E.H., SHAPIRO R., KAMHOLZ J., OVERHAUSER J.: Analysis of clinical variation seen in patients with 18q terminal deletions. Am. J. Med. Genet., 1995, 59, 476-483.
-
(1995)
Am. J. Med. Genet.
, vol.59
, pp. 476-483
-
-
Strathdee, G.1
Zackai, E.H.2
Shapiro, R.3
Kamholz, J.4
Overhauser, J.5
-
9
-
-
0014953091
-
Familial occurrence of 18q
-
SUBRT I., POKORNY J.: Familial occurrence of 18q-. Hum. Genet., 1970, 10, 181-187.
-
(1970)
Hum. Genet.
, vol.10
, pp. 181-187
-
-
Subrt, I.1
Pokorny, J.2
-
10
-
-
0017101687
-
18q- deletion in mother and daughter
-
SULZER M., ZIERLER H.: 18q- deletion in mother and daughter. Wien. Klin. Wochenschr., 1976, 88, 571-575.
-
(1976)
Wien. Klin. Wochenschr.
, vol.88
, pp. 571-575
-
-
Sulzer, M.1
Zierler, H.2
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