-
1
-
-
0028947788
-
50 probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
-
submitted
-
Blennow E, Brøndum Nielsen K, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjöld M (1995): 50 probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet (submitted).
-
(1995)
Am J Med Genet
-
-
Blennow, E.1
Brøndum Nielsen, K.2
Telenius, H.3
Carter, N.P.4
Kristoffersson, U.5
Holmberg, E.6
Gillberg, C.7
Nordenskjöld, M.8
-
2
-
-
0027067959
-
Complete characterization of a large marker chromosome by reverse and forward chromosome painting
-
Blennow E, Telenius H, Larsson C, de Vos D, Bajalica S, Ponder BAJ, Nordenskjöld M (1992): Complete characterization of a large marker chromosome by reverse and forward chromosome painting. Hum Genet 90:371-374.
-
(1992)
Hum Genet
, vol.90
, pp. 371-374
-
-
Blennow, E.1
Telenius, H.2
Larsson, C.3
De Vos, D.4
Bajalica, S.5
Ponder, B.A.J.6
Nordenskjöld, M.7
-
3
-
-
0027440264
-
Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies
-
Breslau-Siderius EJ, Wijnen JT, Dauwerse JG, de Pater JM, Beemer FA, Meera Khan P (1993): Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies. Hum Genet 92:481-485.
-
(1993)
Hum Genet
, vol.92
, pp. 481-485
-
-
Breslau-Siderius, E.J.1
Wijnen, J.T.2
Dauwerse, J.G.3
De Pater, J.M.4
Beemer, F.A.5
Meera Khan, P.6
-
4
-
-
0016331921
-
Familial mental retardation in a family with an inherited chromosome rearrangement
-
Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL (1974): Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet 11:353-363.
-
(1974)
J Med Genet
, vol.11
, pp. 353-363
-
-
Chudley, A.E.1
Bauder, F.2
Ray, M.3
McAlpine, P.J.4
Pena, S.D.J.5
Hamerton, J.L.6
-
5
-
-
0016779785
-
Partial trisomy for the long arms of chromosome 5 due to insertion and further "aneusomie de recombination"
-
Jalbert P, Jalbert H, Sele B, Mouriquand C, Malka J, Boucharlat J, Pison H (1975): Partial trisomy for the long arms of chromosome 5 due to insertion and further "aneusomie de recombination". J Med Genet 12: 418-422.
-
(1975)
J Med Genet
, vol.12
, pp. 418-422
-
-
Jalbert, P.1
Jalbert, H.2
Sele, B.3
Mouriquand, C.4
Malka, J.5
Boucharlat, J.6
Pison, H.7
-
6
-
-
0026602851
-
Intrachromosomal insertions: A case report and review
-
Madan K, Menko FH (1992): Intrachromosomal insertions: A case report and review. Hum Genet 89:1-9.
-
(1992)
Hum Genet
, vol.89
, pp. 1-9
-
-
Madan, K.1
Menko, F.H.2
-
7
-
-
0025020329
-
Familial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia
-
McGillivray BC, Bassett AS, Langlois S, Pantzar T, Wood S (1990): Familial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. Am J Med Genet 35:10-13.
-
(1990)
Am J Med Genet
, vol.35
, pp. 10-13
-
-
McGillivray, B.C.1
Bassett, A.S.2
Langlois, S.3
Pantzar, T.4
Wood, S.5
-
8
-
-
0018911307
-
Partial trisomie 5q: Three different phenotypes depending on different duplication segments
-
Rodewald A, Zankl M, Gley E-O, Zang KD (1980): Partial trisomie 5q: Three different phenotypes depending on different duplication segments. Hum Genet 55:191-198.
-
(1980)
Hum Genet
, vol.55
, pp. 191-198
-
-
Rodewald, A.1
Zankl, M.2
Gley, E.-O.3
Zang, K.D.4
-
9
-
-
0025613437
-
Tandem duplication of proximal 5q
-
Rojas-Martinez A, Garcia-Cruz D, Medina C, Moller M, Restrepo CM, Rivera H (1990): Tandem duplication of proximal 5q. Ann Genet 33: 228-230.
-
(1990)
Ann Genet
, vol.33
, pp. 228-230
-
-
Rojas-Martinez, A.1
Garcia-Cruz, D.2
Medina, C.3
Moller, M.4
Restrepo, C.M.5
Rivera, H.6
-
10
-
-
0027952554
-
Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15)
-
Sawyer JR, Jones E, Hawks FF, Quirk JG, Cunniff C (1994): Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15). Am J Med Genet 49:422-427.
-
(1994)
Am J Med Genet
, vol.49
, pp. 422-427
-
-
Sawyer, J.R.1
Jones, E.2
Hawks, F.F.3
Quirk, J.G.4
Cunniff, C.5
-
11
-
-
0024392548
-
Duplication of 5q11.2→q13.1 from a familial (5;20) balanced insertion
-
Yip M-Y, Kemp J, Hanson N, Wilson M, Purvis-Smith S, Lam-Po-Tang PRL (1989): Duplication of 5q11.2→q13.1 from a familial (5;20) balanced insertion. Am J Med Genet 32:220-223.
-
(1989)
Am J Med Genet
, vol.32
, pp. 220-223
-
-
Yip, M.-Y.1
Kemp, J.2
Hanson, N.3
Wilson, M.4
Purvis-Smith, S.5
Lam-Po-Tang, P.R.L.6
|