-
1
-
-
0027250654
-
Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels
-
Fisher AM, Barber JCK, Crolla JA, James RS, Lestas AN, Jennings I, Dennis NR (1993). Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet 47:100-105.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 100-105
-
-
Fisher, A.M.1
Barber, J.C.K.2
Crolla, J.A.3
James, R.S.4
Lestas, A.N.5
Jennings, I.6
Dennis, N.R.7
-
2
-
-
0023786330
-
Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47, XY, + i (8p)/46, XY
-
Kristoffersson U, Lagergren J, Heim S, Mandahl N (1988). Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47, XY, + i (8p)/46, XY. Clin Genet 34:201-203.
-
(1988)
Clin. Genet.
, vol.34
, pp. 201-203
-
-
Kristoffersson, U.1
Lagergren, J.2
Heim, S.3
Mandahl, N.4
-
3
-
-
10744230541
-
Prenatal diagnosis of mosaic tetrasomy 8p
-
Le Bris M-J, Marcorelles P, Audrézet M-P, Parent P, Heren P, Le Guern H, et al. (2003). Prenatal diagnosis of mosaic tetrasomy 8p. Am J Med Genet 120 A: 44-48.
-
(2003)
Am. J. Med. Genet.
, vol.120 A
, pp. 44-48
-
-
Le Bris, M.-J.1
Marcorelles, P.2
Audrézet, M.-P.3
Parent, P.4
Heren, P.5
Le Guern, H.6
-
4
-
-
17144453698
-
Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes
-
López-Pajares I, Delicado A, Lapunzina P, Mori MA, de Torres ML, Aso S, Garcia Sanchez P (2003). Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes. Am J Med Genet 118 A: 353-357.
-
(2003)
Am. J. Med. Genet.
, vol.118 A
, pp. 353-357
-
-
López-Pajares, I.1
Delicado, A.2
Lapunzina, P.3
Mori, M.A.4
De Torres, M.L.5
Aso, S.6
Sanchez, P.G.7
-
5
-
-
0029143637
-
Non-cardiac malformations in individuals with outflow tract defects of the heart: The Baltimore-Washington Infant Study (1981-1989)
-
Lurie IW, Kappetein AP, Loffredo CA, Ferencz C (1995). Non-cardiac malformations in individuals with outflow tract defects of the heart: the Baltimore-Washington Infant Study (1981-1989). Am J Med Genet 59:76-84.
-
(1995)
Am. J. Med. Genet.
, vol.59
, pp. 76-84
-
-
Lurie, I.W.1
Kappetein, A.P.2
Loffredo, C.A.3
Ferencz, C.4
-
6
-
-
0141855225
-
Agenesis of corpus callosum: Prenatal diagnosis and prognosis
-
Moutard M-L, Kieffer V, Feingold J, Kieffer F, Lewin F, Adamsbaum C, et al. (2003). Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst 19:471-476.
-
(2003)
Childs Nerv Syst
, vol.19
, pp. 471-476
-
-
Moutard, M.-L.1
Kieffer, V.2
Feingold, J.3
Kieffer, F.4
Lewin, F.5
Adamsbaum, C.6
-
7
-
-
0030723730
-
Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature
-
Napoleone RM, Varela M, Anderson HC (1997). Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature. Am J Med Genet 73:330-333.
-
(1997)
Am. J. Med. Genet.
, vol.73
, pp. 330-333
-
-
Napoleone, R.M.1
Varela, M.2
Anderson, H.C.3
-
9
-
-
33646787451
-
Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): Discordance between chorionic villi culture and amniotic fluid karyotypes
-
Nucaro AL, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P (2006). Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes. Prenat Diagn 26:418-419.
-
(2006)
Prenat Diagn
, vol.26
, pp. 418-419
-
-
Nucaro, A.L.1
Rossino, R.2
Pruna, D.3
Rassu, S.4
Cianchetti, C.5
Cao, A.6
Moi, P.7
-
10
-
-
0024355129
-
Secondary trisomy or mosaic tetrasomy 8p
-
Robinow M, Haney N, Chen H, Sorauf T, Van Dyke DL, Babu VR, et al. (1989). Secondary trisomy or mosaic tetrasomy 8p. Am J Med Genet 32:320-324.
-
(1989)
Am. J. Med. Genet.
, vol.32
, pp. 320-324
-
-
Robinow, M.1
Haney, N.2
Chen, H.3
Sorauf, T.4
Van Dyke, D.L.5
Babu, V.R.6
-
11
-
-
0025062739
-
Congenital cardiovascular malformations (CCVM) and structural chromosomal abnormalities: A report of 9 cases and literature review
-
Roskes EJ, Boughman JA, Schwarz S, Cohen MM (1990). Congenital cardiovascular malformations (CCVM) and structural chromosomal abnormalities: a report of 9 cases and literature review. Clin Genet 38:198-210.
-
(1990)
Clin. Genet.
, vol.38
, pp. 198-210
-
-
Roskes, E.J.1
Boughman, J.A.2
Schwarz, S.3
Cohen, M.M.4
-
12
-
-
0028267962
-
Mosaic tetrasomy 8p in two patients: Clinical data and review of the literature
-
Schrander-Stumpel CTRM, Govaerts LCP, Engelen JJM, van der Blij-Philipsen M, Borghgraef M, Loots WJG, et al. (1994). Mosaic tetrasomy 8p in two patients: clinical data and review of the literature. Am J Med Genet 50:377-380.
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 377-380
-
-
Schrander-Stumpel, C.T.R.M.1
Govaerts, L.C.P.2
Engelen, J.J.M.3
Van Der Blij-Philipsen, M.4
Borghgraef, M.5
Loots, W.J.G.6
-
13
-
-
0027209033
-
Mosaic isochromosome 8p
-
Tilstra D, Grove M, Spencer AC, Norwood TH, Pagon RA (1993). Mosaic isochromosome 8p. Am J Med Genet 46:517-519.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 517-519
-
-
Tilstra, D.1
Grove, M.2
Spencer, A.C.3
Norwood, T.H.4
Pagon, R.A.5
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