-
1
-
-
0036936046
-
Partial trisomy 20q in a newborn with dextrocardia
-
ADDOR M.C., CASTAGNE C., MICHELI J.L., SCHORDERET D.F.: Partial trisomy 20q in a newborn with dextrocardia. Genet. Couns., 2002, 13 (4), 433-440.
-
(2002)
Genet. Couns.
, vol.13
, Issue.4
, pp. 433-440
-
-
Addor, M.C.1
Castagne, C.2
Micheli, J.L.3
Schorderet, D.F.4
-
2
-
-
0022921550
-
Segregation of a t (3; 20) translocation through three generations resulting in unbalanced karyotypes in six persons
-
BRONDUM-NIELSEN K., TOMMERUP N., JESPERSEN B., NYGAARD P., KLIEF L.: Segregation of a t (3; 20) translocation through three generations resulting in unbalanced karyotypes in six persons. J. Med. Genet., 1986, 23, 446-451.
-
(1986)
J. Med. Genet.
, vol.23
, pp. 446-451
-
-
Brondum-Nielsen, K.1
Tommerup, N.2
Jespersen, B.3
Nygaard, P.4
Klief, L.5
-
3
-
-
27144454909
-
A novel duplication of the long arm of chromosome 20 in a newborn
-
BURBRIDGE J., REID E., SWANTON S.: A novel duplication of the long arm of chromosome 20 in a newborn. J. Med. Genet., 2003, 40, supplement 1, 557.
-
(2003)
J. Med. Genet.
, vol.40
, Issue.SUPPL. 1
, pp. 557
-
-
Burbridge, J.1
Reid, E.2
Swanton, S.3
-
4
-
-
0026345679
-
Construction and characterization of plasmid libraries enriched with sequences from single human chromosomes
-
COLLINS C., KUO W.L., SEGRAVES R., FUSCOE J., PINKEL D., GRAY J.W.: Construction and characterization of plasmid libraries enriched with sequences from single human chromosomes. Genomics, 1991, 11 (4), 997-1006.
-
(1991)
Genomics
, vol.11
, Issue.4
, pp. 997-1006
-
-
Collins, C.1
Kuo, W.L.2
Segraves, R.3
Fuscoe, J.4
Pinkel, D.5
Gray, J.W.6
-
5
-
-
0002522630
-
Isochromosomes and interstitial tandem direct and inverted duplications
-
A. Daniel (ed.) Alan R. Liss Inc.
-
van DYKE D.L.: Isochromosomes and interstitial tandem direct and inverted duplications. In: The Cytogenetics of Mammalian Autosomal Rearrangements. A. Daniel (ed.) Alan R. Liss Inc., 1988, 635-665.
-
(1988)
The Cytogenetics of Mammalian Autosomal Rearrangements
, pp. 635-665
-
-
Van Dyke, D.L.1
-
6
-
-
0016708402
-
Trisomy 20q
-
FAWCETT W.A., McCORD W.K., FRANCKE U.: Trisomy 20q-. Birth defects, 1975, XI (5), 223-228.
-
(1975)
Birth Defects
, vol.11
, Issue.5
, pp. 223-228
-
-
Fawcett, W.A.1
McCord, W.K.2
Francke, U.3
-
7
-
-
14044275302
-
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour
-
FINELLI P., NATACCI F., BONATI M.T., GOTTARDI G., ENGELEN J.J.M., de DIE-SMULDERS C.E.M., SALA M., GIARDINO D., LARIZZA L.: FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour. J. Med. Genet., 2004, 41, E90.
-
(2004)
J. Med. Genet.
, vol.41
-
-
Finelli, P.1
Natacci, F.2
Bonati, M.T.3
Gottardi, G.4
Engelen, J.J.M.5
De Die-Smulders, C.E.M.6
Sala, M.7
Giardino, D.8
Larizza, L.9
-
8
-
-
0025305113
-
Trisomy 20q. A new case and further phenotypic delineation
-
HERENS C., VERLOES A., LALOUX F., VAN MALDEGEM L.: Trisomy 20q. A new case and further phenotypic delineation. Clin. Genet., 1990, 37, 363-366.
-
(1990)
Clin. Genet.
, vol.37
, pp. 363-366
-
-
Herens, C.1
Verloes, A.2
Laloux, F.3
Van Maldegem, L.4
-
9
-
-
0025128991
-
High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
-
LICHTER P., TANG C.C., CALL K., HERMANSON G., EVANS H.J., HOUSMAN D., WARD D.C.: High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science, 1990, 247, 64-69.
-
(1990)
Science
, vol.247
, pp. 64-69
-
-
Lichter, P.1
Tang, C.C.2
Call, K.3
Hermanson, G.4
Evans, H.J.5
Housman, D.6
Ward, D.C.7
-
10
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
LUPSKI J.R.: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet., 1998, 14, 417-422.
-
(1998)
Trends Genet.
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
11
-
-
16044371402
-
A complete set of human telomere probes and their clinical application
-
NIH & IMMC: A complete set of human telomere probes and their clinical application. Nat. Genet., 1996, 14, 86-89.
-
(1996)
Nat. Genet.
, vol.14
, pp. 86-89
-
-
-
12
-
-
0018371928
-
Trisomy 20q due to maternal t(16;20) translocation. First case
-
PAWLOWITZKI I.H., GROBE H., HOLZGREBE W.: Trisomy 20q due to maternal t(16;20) translocation. First case. Clin. Genet., 1979, 15, 167-170.
-
(1979)
Clin. Genet.
, vol.15
, pp. 167-170
-
-
Pawlowitzki, I.H.1
Grobe, H.2
Holzgrebe, W.3
-
13
-
-
0023905563
-
Partial trisomy 20q due to paternal t(8; 20) translocation
-
PIERQUIN G., HERENS C., DODINVAL P., FREDERIC J., WEBER I., SENTERRE J., FRYNS J.P.: Partial trisomy 20q due to paternal t(8; 20) translocation. Clin. Genet., 1988, 33 (5), 386-389.
-
(1988)
Clin. Genet.
, vol.33
, Issue.5
, pp. 386-389
-
-
Pierquin, G.1
Herens, C.2
Dodinval, P.3
Frederic, J.4
Weber, I.5
Senterre, J.6
Fryns, J.P.7
-
14
-
-
0017570009
-
Partial trisomy 20(20q13) and partial trisomy 21(21pter-21q21.3)
-
SANCHEZ O., MAMUNES P., YUNIS J.J.: Partial trisomy 20(20q13) and partial trisomy 21(21pter-21q21.3). J. Med. Genet., 1977, 14, 459-462.
-
(1977)
J. Med. Genet.
, vol.14
, pp. 459-462
-
-
Sanchez, O.1
Mamunes, P.2
Yunis, J.J.3
-
15
-
-
0022975156
-
Case report: Partial trisomy 20q(20q13.13→qter)
-
SAX C.M., BODURTHA J.N., BROWN J.A.: Case report: partial trisomy 20q(20q13.13→qter). Clin. Genet., 1986, 30, 462-465.
-
(1986)
Clin. Genet.
, vol.30
, pp. 462-465
-
-
Sax, C.M.1
Bodurtha, J.N.2
Brown, J.A.3
-
16
-
-
0025298173
-
Trisomy 20q caused by der (X)t(X;20) (q28; q11.2)
-
1990
-
WATERS J.J., GOURLEY D.S., AITKEN D.A., DAVISON B.C.: 1990. Trisomy 20q caused by der (X)t(X;20) (q28; q11.2). Am. J. Med. Genet., 1990, 36, 310-312.
-
(1990)
Am. J. Med. Genet.
, vol.36
, pp. 310-312
-
-
Waters, J.J.1
Gourley, D.S.2
Aitken, D.A.3
Davison, B.C.4
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