-
1
-
-
0017893462
-
A long unidentifiable extra chromosomal segment-a possible duplication of human 7q
-
Wahrman J., Cohen MM, Rosenmann A., et al. A long unidentifiable extra chromosomal segment-a possible duplication of human 7q. Cytogenet Cell Genet. 1978; 20:160-168.
-
(1978)
Cytogenet Cell Genet
, vol.20
, pp. 160-168
-
-
Wahrman, J.1
Cohen, M.M.2
Rosenmann, A.3
-
2
-
-
0018880818
-
Full trisomy 7 and Potter syndrome
-
Yunis E., Ramirez E., Uribe JG Full trisomy 7 and Potter syndrome. Hum Genet. 1980; 54: 13-18.
-
(1980)
Hum Genet
, vol.54
, pp. 13-18
-
-
Yunis, E.1
Ramirez, E.2
Uribe, J.G.3
-
3
-
-
0020451792
-
Tiny interstitial duplication of proximal 7q in association with a maternal para-centric inversion
-
Hoo JJ, Lorenz R., Fischer A., Fuhrmann W. Tiny interstitial duplication of proximal 7q in association with a maternal para-centric inversion. Hum Genet. 1982; 62: 113-116.
-
(1982)
Hum Genet
, vol.62
, pp. 113-116
-
-
Hoo, J.J.1
Lorenz, R.2
Fischer, A.3
Fuhrmann, W.4
-
4
-
-
0020306096
-
Partial trisomy of the long arm of chromosome 7: Case report and review
-
Novales MA, Fernandez-Novoa C., Hevia A., San Martin V., Galera H. Partial trisomy of the long arm of chromosome 7: Case report and review. Hum Genet. 1982; 62: 378-381.
-
(1982)
Hum Genet
, vol.62
, pp. 378-381
-
-
Novales, M.A.1
Fernandez-Novoa, C.2
Hevia, A.3
San Martin, V.4
Galera, H.5
-
5
-
-
0021070160
-
De novo duplication of the 7q11-q22 region
-
Kardon NB, Pollack L., David J., et al. De novo duplication of the 7q11-q22 region. J Med Genet. 1983; 20: 471-473.
-
(1983)
J Med Genet
, vol.20
, pp. 471-473
-
-
Kardon, N.B.1
Pollack, L.2
David, J.3
-
7
-
-
0025008535
-
Clinical diagnosis of partial duplication 7q
-
Bartsch O., Kalbe U., Ngo TKN, et al. Clinical diagnosis of partial duplication 7q. Am J Med Genet. 1990; 37: 254-257.
-
(1990)
Am J Med Genet
, vol.37
, pp. 254-257
-
-
Bartsch, O.1
Kalbe, U.2
Ngo, T.K.N.3
-
8
-
-
0025101075
-
Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7
-
Romain DR, Cairney H., Stewart D., et al. Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. J Med Genet. 1990; 27: 109-113.
-
(1990)
J Med Genet
, vol.27
, pp. 109-113
-
-
Romain, D.R.1
Cairney, H.2
Stewart, D.3
-
9
-
-
0001650677
-
Duplication 7q resulting from a maternal insertional translocation
-
Humphreys MW, Magee AC, Nevin NC Duplication 7q resulting from a maternal insertional translocation. J Med Genet. 1991;28: 274.
-
(1991)
J Med Genet
, vol.28
, pp. 274
-
-
Humphreys, M.W.1
Magee, A.C.2
Nevin, N.C.3
-
10
-
-
0026451619
-
De novo inverted duplication of chromosome 7
-
Haslam JS, Norman AM De novo inverted duplication of chromosome 7. J Med Genet. 1992; 29: 837-838.
-
(1992)
J Med Genet
, vol.29
, pp. 837-838
-
-
Haslam, J.S.1
Norman, A.M.2
-
11
-
-
0026589393
-
Tandem duplication of the terminal band of the long arm of chromosome7 (dir dup(7)(q36-qter))
-
Verma RS, Conte RA, Pitter JH Tandem duplication of the terminal band of the long arm of chromosome7 (dir dup(7)(q36-qter)). J Med Genet. 1992; 29: 344-345.
-
(1992)
J Med Genet
, vol.29
, pp. 344-345
-
-
Verma, R.S.1
Conte, R.A.2
Pitter, J.H.3
-
12
-
-
0032545310
-
Syndrome of facial, oral, and digital anomalies due to 7q21.2-q22.1 duplication
-
Lukusa T., Fryns JP Syndrome of facial, oral, and digital anomalies due to 7q21.2-q22.1 duplication. Am J Med Genet. 1998; 80: 454-458.
-
(1998)
Am J Med Genet
, vol.80
, pp. 454-458
-
-
Lukusa, T.1
Fryns, J.P.2
-
13
-
-
0033948949
-
Prenatal detection of trisomy for the entire long arm of chromosome 7
-
Ndah BV, Stead JA, Brancazio LR, et al. Prenatal detection of trisomy for the entire long arm of chromosome 7. J Med Genet. 2000; 37: 551-553.
-
(2000)
J Med Genet
, vol.37
, pp. 551-553
-
-
Ndah, B.V.1
Stead, J.A.2
Brancazio, L.R.3
-
14
-
-
0034858081
-
Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)
-
Courtens W., Vroman S., Vandenhove J., Wiedemann U., Schinzel A. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenat Diagn. 2001; 21: 642-648.
-
(2001)
Prenat Diagn
, vol.21
, pp. 642-648
-
-
Courtens, W.1
Vroman, S.2
Vandenhove, J.3
Wiedemann, U.4
Schinzel, A.5
-
15
-
-
0037159475
-
Pure partial trisomy 7q: Two new patients and review
-
Rodriguez L., López F., Paisán L., et al. Pure partial trisomy 7q: Two new patients and review. Am J Med Genet. 2003; 113: 218-224.
-
(2003)
Am J Med Genet
, vol.113
, pp. 218-224
-
-
Rodriguez, L.1
López, F.2
Paisán, L.3
-
16
-
-
0023707601
-
The phenotype of partial dup(7q) reconsidered: A report of five new cases
-
Forabosco A., Baroncini A., Dalpra L., et al. The phenotype of partial dup(7q) reconsidered: A report of five new cases. Clin Genet. 1988; 34: 48-59.
-
(1988)
Clin Genet
, vol.34
, pp. 48-59
-
-
Forabosco, A.1
Baroncini, A.2
Dalpra, L.3
-
18
-
-
33747594579
-
Genetic malformations of cortical development
-
Guerrini R., Martini C. Genetic malformations of cortical development. Exp Brain Res. 2006; 173: 322-333.
-
(2006)
Exp Brain Res
, vol.173
, pp. 322-333
-
-
Guerrini, R.1
Martini, C.2
-
19
-
-
33745685474
-
Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations
-
Parrini E., Ramazzotti A., Dobyns WB, et al. Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006; 129: 1892-1906.
-
(2006)
Brain
, vol.129
, pp. 1892-1906
-
-
Parrini, E.1
Ramazzotti, A.2
Dobyns, W.B.3
-
20
-
-
0037465847
-
Periventricular heterotopia associated with chromosome 5p anomalies
-
Sheen VL, Wheless JW, Bodell A., et al. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003; 60: 1033-1066.
-
(2003)
Neurology
, vol.60
, pp. 1033-1066
-
-
Sheen, V.L.1
Wheless, J.W.2
Bodell, A.3
-
21
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
-
Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006; 354:1370-1377.
-
(2006)
N Engl J Med
, vol.354
, pp. 1370-1377
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Huentelman, M.J.3
-
22
-
-
33744821350
-
Periventricular nodular heterotopia and Williams syndrome
-
Ferland RJ, Gaitanis JN, Apse K., et al. Periventricular nodular heterotopia and Williams syndrome. Am J Med Genet. 2006; 140: 1305-1311.
-
(2006)
Am J Med Genet
, vol.140
, pp. 1305-1311
-
-
Ferland, R.J.1
Gaitanis, J.N.2
Apse, K.3
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