-
1
-
-
0031749674
-
Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability
-
Jordan M.A., Marques I., Rosendorff J., de Ravel T.J. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability. Genet Couns 1998, 9:139-146.
-
(1998)
Genet Couns
, vol.9
, pp. 139-146
-
-
Jordan, M.A.1
Marques, I.2
Rosendorff, J.3
de Ravel, T.J.4
-
2
-
-
0036050523
-
Trisomy 8 mosaicism syndrome
-
WiŚniewska M., Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet 2002, 43:115-118.
-
(2002)
J Appl Genet
, vol.43
, pp. 115-118
-
-
Wiśniewska, M.1
Mazurek, M.2
-
3
-
-
82455173235
-
Trisomy 8 mosaicism
-
Water de Gruter, GmbH & Co, Berlin, A. Schinzel (Ed.)
-
Schinzel A. Trisomy 8 mosaicism. Catalogue of unbalanced chromosome aberrations in man 2001, 384-391. Water de Gruter, GmbH & Co, Berlin. 2nd ed. A. Schinzel (Ed.).
-
(2001)
Catalogue of unbalanced chromosome aberrations in man
, pp. 384-391
-
-
Schinzel, A.1
-
4
-
-
78149318007
-
Mosaic trisomy 9: prenatal diagnosis and molecular genetic analyses
-
Chen C.-P., Lin H.-M., Su Y.-N., Chern S.-R., Tsai F.-J., Wu P.-C., et al. Mosaic trisomy 9: prenatal diagnosis and molecular genetic analyses. Taiwan J Obstet Gynecol 2010, 49:341-350.
-
(2010)
Taiwan J Obstet Gynecol
, vol.49
, pp. 341-350
-
-
Chen, C.-P.1
Lin, H.-M.2
Su, Y.-N.3
Chern, S.-R.4
Tsai, F.-J.5
Wu, P.-C.6
-
5
-
-
13244249913
-
Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
-
Donaghue C., Mann K., Docherry Z., Ogilvie C.M. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005, 25:65-72.
-
(2005)
Prenat Diagn
, vol.25
, pp. 65-72
-
-
Donaghue, C.1
Mann, K.2
Docherry, Z.3
Ogilvie, C.M.4
-
6
-
-
33845274890
-
Detection of low-level mosaicism by array CGH in routine diagnostic specimens
-
Ballif B.C., Rorem E.A., Sundin K., Lincicum M., Gaskin S., Coppinger J., et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet 2006, 140A:2757-2767.
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 2757-2767
-
-
Ballif, B.C.1
Rorem, E.A.2
Sundin, K.3
Lincicum, M.4
Gaskin, S.5
Coppinger, J.6
-
7
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer L.G., Kashork C.D., Saleki R., Rorem E., Sundin K., Ballif B.C., et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
Ballif, B.C.6
-
8
-
-
37349042458
-
Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray
-
Cross J., Peters G., Wu Z., Brohede J., Hannan G.N. Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat Diagn 2007, 27:1197-1204.
-
(2007)
Prenat Diagn
, vol.27
, pp. 1197-1204
-
-
Cross, J.1
Peters, G.2
Wu, Z.3
Brohede, J.4
Hannan, G.N.5
-
9
-
-
0029814070
-
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency
-
Benlian P., Foubert L., Gagne S.E., Bernard L., De Gennes J.L., Langlois S., et al. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am J Hum Genet 1996, 59:431-436.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 431-436
-
-
Benlian, P.1
Foubert, L.2
Gagne, S.E.3
Bernard, L.4
De Gennes, J.L.5
Langlois, S.6
-
10
-
-
33845995116
-
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8
-
Varon R., Müer A., Wagner K., Zierler H., Sodia S., Rauter L., et al. Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. Am J Med Genet 2007, 143A:92-94.
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 92-94
-
-
Varon, R.1
Müer, A.2
Wagner, K.3
Zierler, H.4
Sodia, S.5
Rauter, L.6
-
11
-
-
0028242883
-
Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues
-
Klein J., Graham J.M., Platt L.D., Schreck R. Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues. Prenat Diagn 1994, 14:451-454.
-
(1994)
Prenat Diagn
, vol.14
, pp. 451-454
-
-
Klein, J.1
Graham, J.M.2
Platt, L.D.3
Schreck, R.4
-
12
-
-
0028106477
-
Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn
-
Schneider M., Klein-Vogler U., Tomiuk J., Schliephacke M., Leipoldt M., Enders H. Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn 1994, 14:651-652.
-
(1994)
Prenat Diagn
, vol.14
, pp. 651-652
-
-
Schneider, M.1
Klein-Vogler, U.2
Tomiuk, J.3
Schliephacke, M.4
Leipoldt, M.5
Enders, H.6
-
13
-
-
0028811551
-
Difficulties in prenatal detection of mosaic trisomy 8
-
Hanna J.S., Neu R.L., Barton J.R. Difficulties in prenatal detection of mosaic trisomy 8. Prenat Diagn 1995, 15:1196-1197.
-
(1995)
Prenat Diagn
, vol.15
, pp. 1196-1197
-
-
Hanna, J.S.1
Neu, R.L.2
Barton, J.R.3
-
14
-
-
0031602511
-
Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis
-
Southgate W.M., Wagner C.L., Shields S.M., Cantú E.S., Pai G.S. Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. J Perinatol 1998, 18:78-80.
-
(1998)
J Perinatol
, vol.18
, pp. 78-80
-
-
Southgate, W.M.1
Wagner, C.L.2
Shields, S.M.3
Cantú, E.S.4
Pai, G.S.5
-
15
-
-
0035684223
-
Management of prenatally detected trisomy 8 mosaicism
-
van Haelst M.M., Van Opstal D., Lindhout D., Los F.J. Management of prenatally detected trisomy 8 mosaicism. Prenat Diagn 2001, 21:1075-1078.
-
(2001)
Prenat Diagn
, vol.21
, pp. 1075-1078
-
-
van Haelst, M.M.1
Van Opstal, D.2
Lindhout, D.3
Los, F.J.4
-
16
-
-
0019785371
-
Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues
-
Swisshelm K., Rodriquez M.L., Luthy D., Salk D., Norwood T. Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues. Clin Genet 1981, 20:276-280.
-
(1981)
Clin Genet
, vol.20
, pp. 276-280
-
-
Swisshelm, K.1
Rodriquez, M.L.2
Luthy, D.3
Salk, D.4
Norwood, T.5
-
17
-
-
0019397431
-
Chromosomal mosaicism in amniocentesis: an indication for fetoscopy?
-
Vekemans M., Perry T.B., Hamilton E. Chromosomal mosaicism in amniocentesis: an indication for fetoscopy?. N Engl J Med 1981, 304:52-53.
-
(1981)
N Engl J Med
, vol.304
, pp. 52-53
-
-
Vekemans, M.1
Perry, T.B.2
Hamilton, E.3
-
18
-
-
0023840502
-
True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8
-
Camurri L., Caselli L., Manenti E. True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8. Prenat Diagn 1988, 8:168.
-
(1988)
Prenat Diagn
, vol.8
, pp. 168
-
-
Camurri, L.1
Caselli, L.2
Manenti, E.3
-
19
-
-
0025904315
-
A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally
-
Camurri L., Chiesi A. A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally. Prenat Diagn 1991, 11:59-62.
-
(1991)
Prenat Diagn
, vol.11
, pp. 59-62
-
-
Camurri, L.1
Chiesi, A.2
-
20
-
-
0025324165
-
Analysis of mosaic states in amniotic fluid using the in situ colony technique
-
Welborn J.L., Lewis J.P. Analysis of mosaic states in amniotic fluid using the in situ colony technique. Clin Genet 1990, 38:14-20.
-
(1990)
Clin Genet
, vol.38
, pp. 14-20
-
-
Welborn, J.L.1
Lewis, J.P.2
-
21
-
-
0026682553
-
Cytogenetic results from the U.S. Collaborative Study on CVS
-
Ledbetter D.H., Zachary J.M., Simpson J.L., Golbus M.S., Pergament E., Jackson L., et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 1992, 12:317-345.
-
(1992)
Prenat Diagn
, vol.12
, pp. 317-345
-
-
Ledbetter, D.H.1
Zachary, J.M.2
Simpson, J.L.3
Golbus, M.S.4
Pergament, E.5
Jackson, L.6
-
22
-
-
0029023115
-
Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks
-
Guichet A., Briault S., Toutain A., Paillet C., Descamps P., Pierre F., et al. Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks. Prenat Diagn 1995, 15:769-772.
-
(1995)
Prenat Diagn
, vol.15
, pp. 769-772
-
-
Guichet, A.1
Briault, S.2
Toutain, A.3
Paillet, C.4
Descamps, P.5
Pierre, F.6
-
23
-
-
0030973681
-
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations
-
Hsu L.Y.F., Yu M.-T., Neu R.-L., Van Dyke D.L., Benn P.A., Bradshaw C.L., et al. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn 1997, 17:201-242.
-
(1997)
Prenat Diagn
, vol.17
, pp. 201-242
-
-
Hsu, L.Y.F.1
Yu, M.-T.2
Neu, R.-L.3
Van Dyke, D.L.4
Benn, P.A.5
Bradshaw, C.L.6
-
24
-
-
0030671373
-
Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones
-
Miller K., Arslan-Kirchner A., Schulze B., Dudel-Neujahr A., Morlot M., Burck U., et al. Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones. Ann Génét 1997, 40:181-184.
-
(1997)
Ann Génét
, vol.40
, pp. 181-184
-
-
Miller, K.1
Arslan-Kirchner, A.2
Schulze, B.3
Dudel-Neujahr, A.4
Morlot, M.5
Burck, U.6
-
25
-
-
0031854490
-
Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells
-
Webb A.L., Wolstenholme J., Evans J., Macphail S., Goodship J. Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. Prenat Diagn 1998, 18:737-741.
-
(1998)
Prenat Diagn
, vol.18
, pp. 737-741
-
-
Webb, A.L.1
Wolstenholme, J.2
Evans, J.3
Macphail, S.4
Goodship, J.5
-
26
-
-
0035004534
-
Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow
-
Campbell S., Mavrides E., Prefumo F., Presti F., Carvalho J.S. Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol 2001, 17:341-343.
-
(2001)
Ultrasound Obstet Gynecol
, vol.17
, pp. 341-343
-
-
Campbell, S.1
Mavrides, E.2
Prefumo, F.3
Presti, F.4
Carvalho, J.S.5
-
27
-
-
12244312758
-
Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells
-
Hulley B.J., Hummel M., Cook L.L., Boyd B.K., Wenger S.L. Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. Am J Med Genet 2003, 116A:144-146.
-
(2003)
Am J Med Genet
, vol.116 A
, pp. 144-146
-
-
Hulley, B.J.1
Hummel, M.2
Cook, L.L.3
Boyd, B.K.4
Wenger, S.L.5
-
28
-
-
13144259703
-
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
-
Karadima G., Bugge M., Nicolaidis P., Vassilopoulos D., Avramopoulos D., Grigoriadou M., et al. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 1998, 6:432-438.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 432-438
-
-
Karadima, G.1
Bugge, M.2
Nicolaidis, P.3
Vassilopoulos, D.4
Avramopoulos, D.5
Grigoriadou, M.6
-
29
-
-
0035108625
-
Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn
-
Miller R., Stephan M.J., Hume R.F., Walker W.O., Kelly P., Calhoun B.C., et al. Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. Fetal Diagn Ther 2001, 16:120-122.
-
(2001)
Fetal Diagn Ther
, vol.16
, pp. 120-122
-
-
Miller, R.1
Stephan, M.J.2
Hume, R.F.3
Walker, W.O.4
Kelly, P.5
Calhoun, B.C.6
-
30
-
-
34248676302
-
Warkany syndrome associated with agenesis of the corpus callosum
-
[in Bulgarian]
-
Markov D., Ivanov S., Popivanova P. Warkany syndrome associated with agenesis of the corpus callosum. Akush Ginekol 2007, 46:48-50. [in Bulgarian].
-
(2007)
Akush Ginekol
, vol.46
, pp. 48-50
-
-
Markov, D.1
Ivanov, S.2
Popivanova, P.3
-
31
-
-
84989113336
-
Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases
-
Pilu G., Sandri F., Perolo A., Pittalis M.C., Grisolia G., Cocchi G., et al. Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases. Ultrasound Obstet Gynecol 1993, 3:318-329.
-
(1993)
Ultrasound Obstet Gynecol
, vol.3
, pp. 318-329
-
-
Pilu, G.1
Sandri, F.2
Perolo, A.3
Pittalis, M.C.4
Grisolia, G.5
Cocchi, G.6
|