-
1
-
-
0029814070
-
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency
-
Benlian P., Foubert L., Gagne Bernard L., De Gennes J.L., Langlois S., Robinson W., Hayden M. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am. J. Hum. Genet. 59:1996;431-436
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 431-436
-
-
Benlian, P.1
Foubert, L.2
Gagne Bernard, L.3
De Gennes, J.L.4
Langlois, S.5
Robinson, W.6
Hayden, M.7
-
2
-
-
0035896710
-
Ring chromosome 8: Microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype
-
Bibas Bonet H., Fontenla M., Fauze R., De Pinat I.G. Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype. Rev. Neurol. 32:2001;746-750
-
(2001)
Rev. Neurol.
, vol.32
, pp. 746-750
-
-
Bibas Bonet, H.1
Fontenla, M.2
Fauze, R.3
De Pinat, I.G.4
-
3
-
-
0019800346
-
The cytogenetic and clinical implications of a ring chromosome 2
-
Cote G.B., Katsantoni A., Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann. Genet. 24:1981;231-235
-
(1981)
Ann. Genet.
, vol.24
, pp. 231-235
-
-
Cote, G.B.1
Katsantoni, A.2
Deligeorgis, D.3
-
4
-
-
0022457113
-
Ring chromosome 21 in healthy persons: Different consequences in females and in males
-
Dallapiccola B., De Filippis V., Notarangelo A., Perla G., Zelante L. Ring chromosome 21 in healthy persons: different consequences in females and in males. Hum. Genet. 73:1986;218-220
-
(1986)
Hum. Genet.
, vol.73
, pp. 218-220
-
-
Dallapiccola, B.1
De Filippis, V.2
Notarangelo, A.3
Perla, G.4
Zelante, L.5
-
5
-
-
0030471481
-
Familial ring (19) chromosome mosaicism: Case report and review
-
Flejter W.L., Finlinson D., Root S., Nguyen W., Brothman A.R., Viskochil D. Familial ring (19) chromosome mosaicism: case report and review. Am. J. Med. Genet. 66:1996;276-280
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 276-280
-
-
Flejter, W.L.1
Finlinson, D.2
Root, S.3
Nguyen, W.4
Brothman, A.R.5
Viskochil, D.6
-
6
-
-
0017606172
-
Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation
-
Hamers A.J., van Kempen C. Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation. J. Med. Genet. 14:1977;451-455
-
(1977)
J. Med. Genet.
, vol.14
, pp. 451-455
-
-
Hamers, A.J.1
Van Kempen, C.2
-
7
-
-
0027378797
-
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype
-
Jenderny J., Caliebe A., Beyer C., Grote W. Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. J. Med. Genet. 30:1993;964-965
-
(1993)
J. Med. Genet.
, vol.30
, pp. 964-965
-
-
Jenderny, J.1
Caliebe, A.2
Beyer, C.3
Grote, W.4
-
8
-
-
0034640657
-
Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor
-
Karanjawala Z.E., Kaariainen H., Ghosh S., Tannenbaum J., Martin C., Ally D., Tuomilehto J., Valle T., Collins F.S. Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor. Am. J. Med. Genet. 93:2000;207-210
-
(2000)
Am. J. Med. Genet.
, vol.93
, pp. 207-210
-
-
Karanjawala, Z.E.1
Kaariainen, H.2
Ghosh, S.3
Tannenbaum, J.4
Martin, C.5
Ally, D.6
Tuomilehto, J.7
Valle, T.8
Collins, F.S.9
-
9
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight S.J., Lese C.M., Precht K.S., Kuc J., Ning Y., Lucas S., Regan R., Brenan M., Nicod A., Lawrie N.M., Cardy D.L., Nguyen H., Hudson T.J., Riethman H.C., Ledbetter D.H., Flint J. An optimized set of human telomere clones for studying telomere integrity and architecture. Am. J. Hum. Genet. 67:2000;320-332
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.11
Nguyen, H.12
Hudson, T.J.13
Riethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
10
-
-
0023153582
-
Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome
-
Kosztolanyi G. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum. Genet. 75:1987;174-179
-
(1987)
Hum. Genet.
, vol.75
, pp. 174-179
-
-
Kosztolanyi, G.1
-
11
-
-
0025914051
-
Inherited ring chromosomes: An analysis of published cases
-
Kosztolanyi G., Mehes K., Hook E.B. Inherited ring chromosomes: an analysis of published cases. Hum. Genet. 87:1991;320-324
-
(1991)
Hum. Genet.
, vol.87
, pp. 320-324
-
-
Kosztolanyi, G.1
Mehes, K.2
Hook, E.B.3
-
13
-
-
0027303944
-
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability
-
Pezzolo A., Gimelli G., Cohen A., Lavaggetto A., Romano C., Fogu G., Zuffardi O. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum. Genet. 92:1993;23-27
-
(1993)
Hum. Genet.
, vol.92
, pp. 23-27
-
-
Pezzolo, A.1
Gimelli, G.2
Cohen, A.3
Lavaggetto, A.4
Romano, C.5
Fogu, G.6
Zuffardi, O.7
-
14
-
-
0015625510
-
Ringchromosom 8 (46,XY,8r) bei einem debilen Jungen
-
Pfeiffer R.A., Lenard H.G. Ringchromosom 8 (46,XY,8r) bei einem debilen Jungen. Klin. Pädiatr. 185:1973;187-191
-
(1973)
Klin. Pädiatr.
, vol.185
, pp. 187-191
-
-
Pfeiffer, R.A.1
Lenard, H.G.2
-
15
-
-
0030950630
-
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): Imprinting effect or nullisomy for distal 8p genes?
-
Piantanida M., Dellavecchia C., Floridia G., Giglio S., Hoeller H., Dordi B., Danesino C., Schinzel A., Zuffardi O. Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? Hum. Genet. 99:1997;766-771
-
(1997)
Hum. Genet.
, vol.99
, pp. 766-771
-
-
Piantanida, M.1
Dellavecchia, C.2
Floridia, G.3
Giglio, S.4
Hoeller, H.5
Dordi, B.6
Danesino, C.7
Schinzel, A.8
Zuffardi, O.9
-
17
-
-
0021044154
-
Ring chromosome 21 in phenotypically normal persons: Report of two families from Switzerland and Italy
-
Schmid W., Tenconi R., Baccichetti C., Caufin D., Schinzel A. Ring chromosome 21 in phenotypically normal persons: report of two families from Switzerland and Italy. Am. J. Med. Genet. 16:1983;323-329
-
(1983)
Am. J. Med. Genet.
, vol.16
, pp. 323-329
-
-
Schmid, W.1
Tenconi, R.2
Baccichetti, C.3
Caufin, D.4
Schinzel, A.5
-
18
-
-
0026515264
-
Pericentric inversion of chromosome 7 (inv(7) (p22q11.2) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies
-
Verma R.S., Conte R.A., Pitter J.H., Luke S. Pericentric inversion of chromosome 7 (inv(7) (p22q11.2) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies. J. Med. Genet. 29:1992;66-67
-
(1992)
J. Med. Genet.
, vol.29
, pp. 66-67
-
-
Verma, R.S.1
Conte, R.A.2
Pitter, J.H.3
Luke, S.4
-
19
-
-
0344405655
-
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences
-
Vermeesch J.R., Baten E., Fryns J.P., Devriendt K. Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin. Genet. 62:2002;415-417
-
(2002)
Clin. Genet.
, vol.62
, pp. 415-417
-
-
Vermeesch, J.R.1
Baten, E.2
Fryns, J.P.3
Devriendt, K.4
-
20
-
-
0018911021
-
Ring chromosome and latent centromeres, Cytogenet
-
Zuffardi O., Danesino C., Poloni L., Pavesi F., Bianchi C., Gargantini L. Ring chromosome and latent centromeres, Cytogenet. Cell. Genet. 28:1980;151-157
-
(1980)
Cell. Genet.
, vol.28
, pp. 151-157
-
-
Zuffardi, O.1
Danesino, C.2
Poloni, L.3
Pavesi, F.4
Bianchi, C.5
Gargantini, L.6
|