-
1
-
-
0017138184
-
Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family
-
Andrle M, Erlach A, Killian W, Rett A. 1976. Two cases of trisomy 4p with translocation t(4p-, 7q+) in several members of one family. Hum Genet 33: 155-160.
-
(1976)
Hum Genet
, vol.33
, pp. 155-160
-
-
Andrle, M.1
Erlach, A.2
Killian, W.3
Rett, A.4
-
2
-
-
0018570584
-
4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations
-
Crane J, Sujansky E, Smith A. 1979. 4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations. Am J Med Genet 4: 219-229.
-
(1979)
Am J Med Genet
, vol.4
, pp. 219-229
-
-
Crane, J.1
Sujansky, E.2
Smith, A.3
-
3
-
-
0018855606
-
The Wolf-Hirschhorn syndrome. I. Genetics
-
Lurie IW, Lazjuk GI, Ussova YI, Presman EB, Gurevich DB. 1980. The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet 17: 375-384.
-
(1980)
Clin Genet
, vol.17
, pp. 375-384
-
-
Lurie, I.W.1
Lazjuk, G.I.2
Ussova, Y.I.3
Presman, E.B.4
Gurevich, D.B.5
-
4
-
-
0017799698
-
Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+)
-
Mortimer JG, Chewings W, Miethke P, Smith GF. 1978. Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+). Hum Hered 28: 132-140.
-
(1978)
Hum Hered
, vol.28
, pp. 132-140
-
-
Mortimer, J.G.1
Chewings, W.2
Miethke, P.3
Smith, G.F.4
-
5
-
-
0029025865
-
Clinical manifestations of trisomy 4p syndrome
-
Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS. 1995. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr 154: 425-431.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 425-431
-
-
Patel, S.V.1
Dagnew, H.2
Parekh, A.J.3
Koenig, E.4
Conte, R.A.5
Macera, M.J.6
Verma, R.S.7
-
6
-
-
0029792298
-
Characterization of a derivative chromosome 17 by fish-technique
-
Ramesh KH, Shah HO, Sherman J, Lin JH, Verma RS. 1996. Characterization of a derivative chromosome 17 by fish-technique. Ann Genet 39: 177-180.
-
(1996)
Ann Genet
, vol.39
, pp. 177-180
-
-
Ramesh, K.H.1
Shah, H.O.2
Sherman, J.3
Lin, J.H.4
Verma, R.S.5
-
7
-
-
0021067180
-
Trisomy 4p in four relatives: Variability and lack of distinctive features in phenotypic expression
-
Reynolds JF, Shires MA, Wyandt HE, Kelly TE. 1983. Trisomy 4p in four relatives: Variability and lack of distinctive features in phenotypic expression. Clin Genet 24: 365-374.
-
(1983)
Clin Genet
, vol.24
, pp. 365-374
-
-
Reynolds, J.F.1
Shires, M.A.2
Wyandt, H.E.3
Kelly, T.E.4
-
8
-
-
0015709793
-
Partial trisomy 4p with translocation 4p-, 22p+ in the father
-
Schwanitz G, Grosse KP. 1973. Partial trisomy 4p with translocation 4p-, 22p+ in the father. Ann Genet 16: 263-266.
-
(1973)
Ann Genet
, vol.16
, pp. 263-266
-
-
Schwanitz, G.1
Grosse, K.P.2
-
9
-
-
37249004207
-
Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
-
South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. 2008. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet 16: 45-52.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 45-52
-
-
South, S.T.1
Whitby, H.2
Battaglia, A.3
Carey, J.C.4
Brothman, A.R.5
-
10
-
-
4344623939
-
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
-
Takeno SS, Corbani M, Andrade JA, Smith MA, Brunoni D, Melaragno MI. 2004. Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation. Am J Med Genet Part A 129A: 180-183.
-
(2004)
Am J Med Genet Part A
, vol.129
, pp. 180-183
-
-
Takeno, S.S.1
Corbani, M.2
Andrade, J.A.3
Smith, M.A.4
Brunoni, D.5
Melaragno, M.I.6
-
11
-
-
8044224043
-
A transcript map of the newly defined 165kb Wolf-Hirschhorn syndrome critical region
-
Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinanen M, McDonald-McGinn D, Somer M, Spinner N., et al., 1997. A transcript map of the newly defined 165kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 6: 317-324.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 317-324
-
-
Wright, T.J.1
Ricke, D.O.2
Denison, K.3
Abmayr, S.4
Cotter, P.D.5
Hirschhorn, K.6
Keinanen, M.7
McDonald-McGinn, D.8
Somer, M.9
Spinner, N.10
-
12
-
-
0034684044
-
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
-
Zollino M, Di SC, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappala A, Battaglia A., et al., 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94: 254-261.
-
(2000)
Am J Med Genet
, vol.94
, pp. 254-261
-
-
Zollino, M.1
Di, S.C.2
Zampino, G.3
Mastroiacovo, P.4
Wright, T.J.5
Sorge, G.6
Selicorni, A.7
Tenconi, R.8
Zappala, A.9
Battaglia, A.10
-
13
-
-
0037373130
-
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
-
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. 2003. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72: 590-597.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 590-597
-
-
Zollino, M.1
Lecce, R.2
Fischetto, R.3
Murdolo, M.4
Faravelli, F.5
Selicorni, A.6
Butte, C.7
Memo, L.8
Capovilla, G.9
Neri, G.10
-
14
-
-
55949114508
-
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
-
Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. 2008. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet Part C Semin Med Genet 148C: 257-269.
-
(2008)
Am J Med Genet Part C Semin Med Genet
, vol.148
, pp. 257-269
-
-
Zollino, M.1
Murdolo, M.2
Marangi, G.3
Pecile, V.4
Galasso, C.5
Mazzanti, L.6
Neri, G.7
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