-
1
-
-
0033357990
-
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome
-
Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. 1999. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 65:1387-1395.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1387-1395
-
-
Christ, L.A.1
Crowe, C.A.2
Micale, M.A.3
Conroy, J.M.4
Schwartz, S.5
-
2
-
-
0029069488
-
Molecular characterization of trisomic segment 3p24.1→3pter: A case with review of the literature
-
Conte RA, Pitter JH, Verma RS. 1995. Molecular characterization of trisomic segment 3p24.1→3pter: A case with review of the literature. Clin Genet 48:49-53.
-
(1995)
Clin Genet
, vol.48
, pp. 49-53
-
-
Conte, R.A.1
Pitter, J.H.2
Verma, R.S.3
-
3
-
-
19144369894
-
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications
-
Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O. 1996. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 58:785-796.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 785-796
-
-
Floridia, G.1
Piantanida, M.2
Minelli, A.3
Dellavecchia, C.4
Bonaglia, C.5
Rossi, E.6
Gimelli, G.7
Croci, G.8
Franchi, F.9
Gilgenkrantz, S.10
Grammatico, P.11
Dalpra, L.12
Wood, S.13
Danesino, C.14
Zuffardi, O.15
-
5
-
-
0033995264
-
Opposite deletions/duplications of the X chromosome: Two novel reciprocal rearrangements
-
Giglio S, Pirola B, Arrigo G, Dagrada P, Bardoni B, Bernardi F, Russo G, Argentiero L, Forabosco A, Carrozzo R, Zuffardi O. 2000. Opposite deletions/duplications of the X chromosome: Two novel reciprocal rearrangements. Eur J Hum Genet 8:63-70.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 63-70
-
-
Giglio, S.1
Pirola, B.2
Arrigo, G.3
Dagrada, P.4
Bardoni, B.5
Bernardi, F.6
Russo, G.7
Argentiero, L.8
Forabosco, A.9
Carrozzo, R.10
Zuffardi, O.11
-
6
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
-
Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99:11-17.
-
(1997)
Hum Genet
, vol.99
, pp. 11-17
-
-
Huang, B.1
Crolla, J.A.2
Christian, S.L.3
Wolf-Ledbetter, M.E.4
Macha, M.E.5
Papenhausen, P.N.6
Ledbetter, D.H.7
-
7
-
-
0032929028
-
An 18q-syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA
-
Katz SG, Schneider SS, Bartuski A, Trask BJ, Massa H, Overhauser J, Lalande M, Lansdorp PM, Silverman GA. 1999. An 18q-syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. Hum Mol Genet 8:87-92.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 87-92
-
-
Katz, S.G.1
Schneider, S.S.2
Bartuski, A.3
Trask, B.J.4
Massa, H.5
Overhauser, J.6
Lalande, M.7
Lansdorp, P.M.8
Silverman, G.A.9
-
8
-
-
0021184577
-
Partial trisomy of chromosome 3(p14-p22) due to maternal insertional translocation
-
Kleczkowska A, Fryns JP, Van den Berghe H. 1984. Partial trisomy of chromosome 3(p14-p22) due to maternal insertional translocation. Ann Genet 27:180-183.
-
(1984)
Ann Genet
, vol.27
, pp. 180-183
-
-
Kleczkowska, A.1
Fryns, J.P.2
Van den Berghe, H.3
-
9
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422.
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
10
-
-
0029788688
-
Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation
-
Page SL, Shin JC, Han JY, Choo KH, Shaffer LG. 1996. Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 5:1279-1288.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1279-1288
-
-
Page, S.L.1
Shin, J.C.2
Han, J.Y.3
Choo, K.H.4
Shaffer, L.G.5
-
11
-
-
0028156911
-
Intragenic organization of RB1 in a complex (4;13) rearrangement demonstrated by FISH
-
Rosenberg C, Janson M, Nordenskjöld M, Borrensen AL, Vianna-Morgante AM. 1994. Intragenic organization of RB1 in a complex (4;13) rearrangement demonstrated by FISH. Cytogenet Cell Genet 65:268-271.
-
(1994)
Cytogenet Cell Genet
, vol.65
, pp. 268-271
-
-
Rosenberg, C.1
Janson, M.2
Nordenskjöld, M.3
Borrensen, A.L.4
Vianna-Morgante, A.M.5
-
12
-
-
0033912695
-
Detection of chromosomal aberrations by a whole-genome microsatellite screen
-
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. 2000. Detection of chromosomal aberrations by a whole-genome microsatellite screen. Am J Hum Genet 66:419-427.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 419-427
-
-
Rosenberg, M.J.1
Vaske, D.2
Killoran, C.E.3
Ning, Y.4
Wargowski, D.5
Hudgins, L.6
Tifft, C.J.7
Meck, J.8
Blancato, J.K.9
Rosenbaum, K.10
Pauli, R.M.11
Weber, J.12
Biesecker, L.G.13
-
13
-
-
0034726689
-
Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
-
Sutton VR, Shaffer LG. 2000. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am J Hum Genet 93:381-387.
-
(2000)
Am J Hum Genet
, vol.93
, pp. 381-387
-
-
Sutton, V.R.1
Shaffer, L.G.2
-
14
-
-
0031946990
-
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
-
Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S. 1998. Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 62:925-936.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 925-936
-
-
Wandstrat, A.E.1
Leana-Cox, J.2
Jenkins, L.3
Schwartz, S.4
-
15
-
-
0025285376
-
Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring
-
Watson MS, Dowton SB, Rohrbaugh J. 1990. Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring. Am J Med Genet 36:172-174.
-
(1990)
Am J Med Genet
, vol.36
, pp. 172-174
-
-
Watson, M.S.1
Dowton, S.B.2
Rohrbaugh, J.3
-
16
-
-
0024372937
-
Chromosome specificity of satellite DNAs: Short- and long-range organization of a diverged dimeric subset of human alpha satellite from chromosome 3
-
Waye JS, Willard HF. 1989. Chromosome specificity of satellite DNAs: Short- and long-range organization of a diverged dimeric subset of human alpha satellite from chromosome 3. Chromosoma 97:475-480.
-
(1989)
Chromosoma
, vol.97
, pp. 475-480
-
-
Waye, J.S.1
Willard, H.F.2
-
17
-
-
0021233079
-
Partial serial duplication of the short arm of chromosome 3
-
Zhang SZ, Wang Q. 1984. Partial serial duplication of the short arm of chromosome 3. Chin Med J (Engl) 97:425-428.
-
(1984)
Chin Med J (Engl)
, vol.97
, pp. 425-428
-
-
Zhang, S.Z.1
Wang, Q.2
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