-
1
-
-
0031786137
-
Pallister-Killian syndrome [i(12p)]: First prenatal diagnosis using cordocentesis in the second trimester confirming by in situ hybridization
-
Chiesa J, Hoffet M, Rousseau O (1998) Pallister-Killian syndrome [i(12p)]: first prenatal diagnosis using cordocentesis in the second trimester confirming by in situ hybridization. Clin Genet 54: 294-302
-
(1998)
Clin Genet
, vol.54
, pp. 294-302
-
-
Chiesa, J.1
Hoffet, M.2
Rousseau, O.3
-
2
-
-
0031049563
-
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome
-
Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, et al. (1997) Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am J Med Genet 69:166-168
-
(1997)
Am J Med Genet
, vol.69
, pp. 166-168
-
-
Cormier-Daire, V.1
Le Merrer, M.2
Gigarel, N.3
Morichon, N.4
Prieur, M.5
Lyonnet, S.6
Vekemans, M.7
-
3
-
-
0037329723
-
Tetrasomy 12p: Unusual presentation in CVS
-
Dong L, Falk RE, Williams J, Kohan M, Schreck RR (2003) Tetrasomy 12p: unusual presentation in CVS. Prenat Dign 23:101-103
-
(2003)
Prenat Dign
, vol.23
, pp. 101-103
-
-
Dong, L.1
Falk, R.E.2
Williams, J.3
Kohan, M.4
Schreck, R.R.5
-
4
-
-
0036294797
-
Pallister-Killian syndrome: Difficulties of prenatal diagnosis
-
Doray B, Girard-Lemaire F, Gasser B, Baldauf JJ, de Gitter B, Spizzo M, Zeidan C, et al. (2002) Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 22:470-477
-
(2002)
Prenat Diagn
, vol.22
, pp. 470-477
-
-
Doray, B.1
Girard-Lemaire, F.2
Gasser, B.3
Baldauf, J.J.4
De Gitter, B.5
Spizzo, M.6
Zeidan, C.7
-
5
-
-
0034887978
-
Partial tetrasomy 12pter-12pl2.3 in a girl with Pallister-Killian syndrome: Extraordinary findings of an analphoid, inverted duplicated marker
-
Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schoning M, et al. (2001) Partial tetrasomy 12pter-12pl2.3 in a girl with Pallister-Killian syndrome: extraordinary findings of an analphoid, inverted duplicated marker. Eur J Hum Genet 8:572-576
-
(2001)
Eur J Hum Genet
, vol.8
, pp. 572-576
-
-
Dufke, A.1
Walczak, C.2
Liehr, T.3
Starke, H.4
Trifonov, V.5
Rubtsov, N.6
Schoning, M.7
-
6
-
-
0022338866
-
Mosaic tetrasomy 12p
-
Gilgenkrantz S, Droulle P, Schweitzer M, Foliguet B, Chadefaux B, Lambard M, Chery M, et al. (1985) Mosaic tetrasomy 12p. Clin Genet 28:495-502
-
(1985)
Clin Genet
, vol.28
, pp. 495-502
-
-
Gilgenkrantz, S.1
Droulle, P.2
Schweitzer, M.3
Foliguet, B.4
Chadefaux, B.5
Lambard, M.6
Chery, M.7
-
7
-
-
0021798876
-
The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome
-
Hunter AGW, Clifford B, Cox DM (1985) The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet 28:47-53
-
(1985)
Clin Genet
, vol.28
, pp. 47-53
-
-
Hunter, A.G.W.1
Clifford, B.2
Cox, D.M.3
-
8
-
-
0003802608
-
Case report 72: Mental retardation, unusual facial appearance, abnormal hair
-
Killian W, Teschler-Nicola M (1981) Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident 7:6-7
-
(1981)
Synd Ident
, vol.7
, pp. 6-7
-
-
Killian, W.1
Teschler-Nicola, M.2
-
9
-
-
0344033748
-
Clinical, cytogenetic and molecular observation in a patient with Pallister-Killian-syndrome with an unusual karyotype
-
Leube B, Majewski F, Gebauer J, Royer-Pokora B (2003) Clinical, cytogenetic and molecular observation in a patient with Pallister-Killian- syndrome with an unusual karyotype. Am J Med Genet 123A:296-300
-
(2003)
Am J Med Genet
, vol.123 A
, pp. 296-300
-
-
Leube, B.1
Majewski, F.2
Gebauer, J.3
Royer-Pokora, B.4
-
11
-
-
0017650310
-
The Pallister mosaic syndrome
-
Pallister PD, Meinsner LF, Elajalde BR, Francke U, Herrmann J, Spranger J, Tiddy W, et al. (1977) The Pallister mosaic syndrome. Birth Defects 13:103-110
-
(1977)
Birth Defects
, vol.13
, pp. 103-110
-
-
Pallister, P.D.1
Meinsner, L.F.2
Elajalde, B.R.3
Francke, U.4
Herrmann, J.5
Spranger, J.6
Tiddy, W.7
-
12
-
-
0023188243
-
Pallister-Killian syndrome: Cytogenetic and molecular studies
-
Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A (1987) Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet 31:399-405
-
(1987)
Clin Genet
, vol.31
, pp. 399-405
-
-
Peltomaki, P.1
Knuutila, S.2
Ritvanen, A.3
Kaitila, I.4
De La Chapelle, A.5
-
13
-
-
0022726038
-
On the origin of extra isochromosomes
-
Rivera H, Rivas F, Cantu JM (1986) On the origin of extra isochromosomes. Clin Genet 29:540-541
-
(1986)
Clin Genet
, vol.29
, pp. 540-541
-
-
Rivera, H.1
Rivas, F.2
Cantu, J.M.3
-
14
-
-
0026087355
-
Tetrasomy 12p (Pallister-Killian syndrome)
-
Schinzel A (1991) Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125
-
(1991)
J Med Genet
, vol.28
, pp. 122-125
-
-
Schinzel, A.1
-
15
-
-
0030982483
-
Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection
-
Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G (1997) Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection. Am J Med Genet 72:106-110
-
(1997)
Am J Med Genet
, vol.72
, pp. 106-110
-
-
Schubert, R.1
Viersbach, R.2
Eggermann, T.3
Hansmann, M.4
Schwanitz, G.5
-
16
-
-
0023369619
-
Parental age, and how extra isochromosomes (secondary trisomy) arise
-
Van Dyke DL, Babu VR, Weiss L (1987) Parental age, and how extra isochromosomes (secondary trisomy) arise. Clin Genet 32:75-80
-
(1987)
Clin Genet
, vol.32
, pp. 75-80
-
-
Van Dyke, D.L.1
Babu, V.R.2
Weiss, L.3
-
17
-
-
0023250506
-
Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the Pallister-Mosaic syndrome cases
-
Warburton D, Anyane-Yeboa K, Francke U (1987) Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the Pallister-Mosaic syndrome cases. Am J Med Genet 27:275-283
-
(1987)
Am J Med Genet
, vol.27
, pp. 275-283
-
-
Warburton, D.1
Anyane-Yeboa, K.2
Francke, U.3
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