-
1
-
-
35848962266
-
Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study
-
Bartocci A., Elia M., Cali F., Tiacci C., Cantisani A.T., and Perticoni G. Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. Neurol. Sci. 28 (2007) 276-278
-
(2007)
Neurol. Sci.
, vol.28
, pp. 276-278
-
-
Bartocci, A.1
Elia, M.2
Cali, F.3
Tiacci, C.4
Cantisani, A.T.5
Perticoni, G.6
-
2
-
-
30144445287
-
Isolated 6q terminal deletions: an emerging new syndrome
-
Bertini V., De Vito G., Costa C., Simi P., and Valetto A. Isolated 6q terminal deletions: an emerging new syndrome. Am. J. Med. Genet. 140 (2006) 74-81
-
(2006)
Am. J. Med. Genet.
, vol.140
, pp. 74-81
-
-
Bertini, V.1
De Vito, G.2
Costa, C.3
Simi, P.4
Valetto, A.5
-
3
-
-
0035036675
-
Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosome
-
Birnbacher R., Chudoba I., Pirc-Danoewinata H., König M., Kohlhauser C., Schnedl W., and Haas O.A. Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosome. Ann. Genet. 44 (2001) 13-18
-
(2001)
Ann. Genet.
, vol.44
, pp. 13-18
-
-
Birnbacher, R.1
Chudoba, I.2
Pirc-Danoewinata, H.3
König, M.4
Kohlhauser, C.5
Schnedl, W.6
Haas, O.A.7
-
4
-
-
17644424608
-
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations
-
Eash D., Waggoner D., Chung J., Stevenson D., and Martin C.L. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin. Genet. 67 (2005) 396-403
-
(2005)
Clin. Genet.
, vol.67
, pp. 396-403
-
-
Eash, D.1
Waggoner, D.2
Chung, J.3
Stevenson, D.4
Martin, C.L.5
-
5
-
-
33745229227
-
6q Terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases
-
Elia M., Striano P., Fichera M., Gaggero R., Castiglia L., Galesi O., Malacarne M., Pierluigi M., Amato C., Musumeci S.A., Romano C., et al. 6q Terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. Epilepsia 47 5 (2006) 830-838
-
(2006)
Epilepsia
, vol.47
, Issue.5
, pp. 830-838
-
-
Elia, M.1
Striano, P.2
Fichera, M.3
Gaggero, R.4
Castiglia, L.5
Galesi, O.6
Malacarne, M.7
Pierluigi, M.8
Amato, C.9
Musumeci, S.A.10
Romano, C.11
-
7
-
-
0035863625
-
An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root
-
Ivanovich J.L., Watson M.S., and Whelan A.J. An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root. Am. J. Med. Genet. 98 (2001) 182-184
-
(2001)
Am. J. Med. Genet.
, vol.98
, pp. 182-184
-
-
Ivanovich, J.L.1
Watson, M.S.2
Whelan, A.J.3
-
8
-
-
0018288743
-
Ring chromosome 6: case report and review of literature
-
Kini K.R., Van Dyke D.L., Weiss L., and Logan M.S. Ring chromosome 6: case report and review of literature. Hum. Genet. 50 (1979) 145-149
-
(1979)
Hum. Genet.
, vol.50
, pp. 145-149
-
-
Kini, K.R.1
Van Dyke, D.L.2
Weiss, L.3
Logan, M.S.4
-
9
-
-
0018236482
-
Chromosome 6q - and associated malformations
-
Liberfarb R.T., Atkins L., and Holmes L.B. Chromosome 6q - and associated malformations. Ann. Genet. 21 (1978) 223-225
-
(1978)
Ann. Genet.
, vol.21
, pp. 223-225
-
-
Liberfarb, R.T.1
Atkins, L.2
Holmes, L.B.3
-
10
-
-
22044447468
-
Terminal deletions of 6p results in a recognizable phenotype
-
Lin R.J., Cherry A.M., Chen K.C., Lyons M., Hoyme H.E., and Hudgins L. Terminal deletions of 6p results in a recognizable phenotype. Am. J. Med. Genet. 136 (2005) 162-168
-
(2005)
Am. J. Med. Genet.
, vol.136
, pp. 162-168
-
-
Lin, R.J.1
Cherry, A.M.2
Chen, K.C.3
Lyons, M.4
Hoyme, H.E.5
Hudgins, L.6
-
12
-
-
0026518336
-
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21
-
McGinnis M.J., Kazazian H.H., Stetten G., Petersen M.B., Boman H., Engel E., Greenberg F., Hertz J.M., Johnson A., Laca Z., et al. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am. J. Hum. Genet. 50 (1992) 15-28
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 15-28
-
-
McGinnis, M.J.1
Kazazian, H.H.2
Stetten, G.3
Petersen, M.B.4
Boman, H.5
Engel, E.6
Greenberg, F.7
Hertz, J.M.8
Johnson, A.9
Laca, Z.10
-
14
-
-
0021014404
-
Ring chromosome 6: variability in phenotype expression
-
Peeden J.N., Scarbrough P., Taysi K., Wilroy R.S., Finley S., Luthardt P., Martens P., and Howard-Peebles P.N. Ring chromosome 6: variability in phenotype expression. Am. J. Med. Genet. 16 (1983) 563-573
-
(1983)
Am. J. Med. Genet.
, vol.16
, pp. 563-573
-
-
Peeden, J.N.1
Scarbrough, P.2
Taysi, K.3
Wilroy, R.S.4
Finley, S.5
Luthardt, P.6
Martens, P.7
Howard-Peebles, P.N.8
-
15
-
-
33748621492
-
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: five new cases
-
Striano P., Malacarne M., Cavani S., Pierluigi M., Rinaldi R., Cavaliere M.L., Rinaldi M.M., De Bernardo C., Coppola A., et al. Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: five new cases. Am. J. Med. Genet. 140 (2006) 1944-1949
-
(2006)
Am. J. Med. Genet.
, vol.140
, pp. 1944-1949
-
-
Striano, P.1
Malacarne, M.2
Cavani, S.3
Pierluigi, M.4
Rinaldi, R.5
Cavaliere, M.L.6
Rinaldi, M.M.7
De Bernardo, C.8
Coppola, A.9
-
16
-
-
0036499199
-
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis
-
Urban M., Bommer C., Tennstedt C., Lehmann K., Thiel G., Wegner R.D., Bollmann R., Becker R., Schulzke I., and Korner H. Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. Am. J. Med. Genet. 108 (2002) 97-104
-
(2002)
Am. J. Med. Genet.
, vol.108
, pp. 97-104
-
-
Urban, M.1
Bommer, C.2
Tennstedt, C.3
Lehmann, K.4
Thiel, G.5
Wegner, R.D.6
Bollmann, R.7
Becker, R.8
Schulzke, I.9
Korner, H.10
-
17
-
-
27244454776
-
Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy
-
Usui N., Kotagal P., Matsumoto R., Kellinghaus C., and Lüders H.O. Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy. Epilepsia 46 (2005) 1668-1676
-
(2005)
Epilepsia
, vol.46
, pp. 1668-1676
-
-
Usui, N.1
Kotagal, P.2
Matsumoto, R.3
Kellinghaus, C.4
Lüders, H.O.5
-
18
-
-
33750201475
-
Juvenile myoclonic epilepsy
-
Welty T.E. Juvenile myoclonic epilepsy. Pediatr. Drugs 8 5 (2006) 303-310
-
(2006)
Pediatr. Drugs
, vol.8
, Issue.5
, pp. 303-310
-
-
Welty, T.E.1
|