-
1
-
-
0025221059
-
Analysis of DNA polymorphisms suggest that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not tranlocations
-
Antonarakis SE, Adelsberger PA, Petersen MB, Binkert F, Schinzel AA. 1990. Analysis of DNA polymorphisms suggest that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not tranlocations. Am J Hum Genet 47:968-972.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 968-972
-
-
Antonarakis, S.E.1
Adelsberger, P.A.2
Petersen, M.B.3
Binkert, F.4
Schinzel, A.A.5
-
2
-
-
0028290335
-
"Compensatory" uniparental disomy of chromosome 21 cases
-
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. "Compensatory" uniparental disomy of chromosome 21 cases. J Med Genet 31:534-540.
-
(1994)
J Med Genet
, vol.31
, pp. 534-540
-
-
Bartsch, O.1
Petersen, M.B.2
Stuhlmann, I.3
Mau, G.4
Frantzen, M.5
Schwinger, E.6
Antonarakis, S.E.7
Mikkelsen, M.8
-
3
-
-
0028920403
-
Single cell analysis demonstrating somatic mosaicism involving lip in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome
-
Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG. 1995. Single cell analysis demonstrating somatic mosaicism involving lip in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome. Hum Molec Genet 4:395-399.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 395-399
-
-
Bischoff, F.Z.1
Feldman, G.L.2
McCaskill, C.3
Subramanian, S.4
Hughes, M.R.5
Shaffer, L.G.6
-
4
-
-
0025616859
-
Molecular study of parental origin of extra chromosomes 21 in regular and de novo translocation trisomies
-
Brahe C, Tassone F, Moscetti A, Millington-Ward A, Bova R, Serra A. 1990. Molecular study of parental origin of extra chromosomes 21 in regular and de novo translocation trisomies. Am J Med Genet 7:125-128.
-
(1990)
Am J Med Genet
, vol.7
, pp. 125-128
-
-
Brahe, C.1
Tassone, F.2
Moscetti, A.3
Millington-Ward, A.4
Bova, R.5
Serra, A.6
-
5
-
-
0022391691
-
Differential activity of maternally and paternally derived chromosome regions in mice
-
Cattanach BM, Kirk M. 1985. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498.
-
(1985)
Nature
, vol.315
, pp. 496-498
-
-
Cattanach, B.M.1
Kirk, M.2
-
6
-
-
0031968466
-
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus
-
Chen C-P, Chern S-R, Lee C-C, Chen L-F, Chuang C-Y, Chen M-H. 1998. Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. Prenat Diagn 18:393-398.
-
(1998)
Prenat Diagn
, vol.18
, pp. 393-398
-
-
Chen, C.-P.1
Chern, S.-R.2
Lee, C.-C.3
Chen, L.-F.4
Chuang, C.-Y.5
Chen, M.-H.6
-
7
-
-
0030893234
-
Paternal uniparental disomy for chromosome 14: A case report and review
-
Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K. 1997. Paternal uniparental disomy for chromosome 14: a case report and review. Am J Med Genet 70:74-79.
-
(1997)
Am J Med Genet
, vol.70
, pp. 74-79
-
-
Cotter, P.D.1
Kaffe, S.2
McCurdy, L.D.3
Jhaveri, M.4
Willner, J.P.5
Hirschhorn, K.6
-
8
-
-
0001624036
-
Misdivision and the genetics of the centromere
-
Darlington CD. 1939. Misdivision and the genetics of the centromere. J Genet 37:341-364.
-
(1939)
J Genet
, vol.37
, pp. 341-364
-
-
Darlington, C.D.1
-
9
-
-
0004993188
-
The origin of isochromosomes
-
Darlington CD. 1940. The origin of isochromosomes. J Genet 39:351-361.
-
(1940)
J Genet
, vol.39
, pp. 351-361
-
-
Darlington, C.D.1
-
10
-
-
0020367121
-
How do human isochromosomes arise?
-
de la Chapelle A. 1982. How do human isochromosomes arise? Cancer Genet Cytogenet 5:173-179.
-
(1982)
Cancer Genet Cytogenet
, vol.5
, pp. 173-179
-
-
De La Chapelle, A.1
-
11
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel E. 1980. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
-
(1980)
Am J Med Genet
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
12
-
-
0018777879
-
Preimplantation lethality of monosomy for mouse chromosome 19
-
Epstein CJ, Travis B. 1979. Preimplantation lethality of monosomy for mouse chromosome 19. Nature 280:144-145.
-
(1979)
Nature
, vol.280
, pp. 144-145
-
-
Epstein, C.J.1
Travis, B.2
-
13
-
-
0005734601
-
Non-expression of genome unbalance in haplophase and early diplophase of the mouse and incidence of karyotypic abnormality in post-implantation embryos
-
Boue A, Thibault C, editors. 12-14 September 1973. Paris, France: INSERM
-
Ford CE, Evans EP. 1974. Non-expression of genome unbalance in haplophase and early diplophase of the mouse and incidence of karyotypic abnormality in post-implantation embryos. In: Boue A, Thibault C, editors. Proceedings of the symposium on chromosomal errors in relation to reproductive failure. 12-14 September 1973. Paris, France: INSERM. p. 271-285.
-
(1974)
Proceedings of the Symposium on Chromosomal Errors in Relation to Reproductive Failure
, pp. 271-285
-
-
Ford, C.E.1
Evans, E.P.2
-
14
-
-
0024843654
-
Isochromosome not translocation in trisomy 21q21q
-
Grasso M, Giovannucci UML, Pierluigi M, Tavellini F, Perroni L, Bricarelli F. 1989. Isochromosome not translocation in trisomy 21q21q. Hum Genet 84:63-65.
-
(1989)
Hum Genet
, vol.84
, pp. 63-65
-
-
Grasso, M.1
Giovannucci, U.M.L.2
Pierluigi, M.3
Tavellini, F.4
Perroni, L.5
Bricarelli, F.6
-
15
-
-
0016202463
-
Trisomy in fetal backcross progeny of male and female metacentric heterozygotes of the mouse
-
Gropp A, Giers D, Kolbus U. 1974. Trisomy in fetal backcross progeny of male and female metacentric heterozygotes of the mouse. Cytogenet Cell Genet 13:511-535.
-
(1974)
Cytogenet Cell Genet
, vol.13
, pp. 511-535
-
-
Gropp, A.1
Giers, D.2
Kolbus, U.3
-
16
-
-
0016745165
-
Systematic approach to the study of trisomy in the mouse
-
Gropp A, Kolbus U, Giers D. 1975. Systematic approach to the study of trisomy in the mouse. Cytogenet Cell Genet 14:42-62.
-
(1975)
Cytogenet Cell Genet
, vol.14
, pp. 42-62
-
-
Gropp, A.1
Kolbus, U.2
Giers, D.3
-
17
-
-
0025738681
-
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
-
Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. 1991. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351:665-667.
-
(1991)
Nature
, vol.351
, pp. 665-667
-
-
Henry, I.1
Bonaiti-Pellie, C.2
Chehensse, V.3
Beldjord, C.4
Schwartz, C.5
Utermann, G.6
Junien, C.7
-
18
-
-
0002418993
-
The frequency of chromosome abnormalities detected in consecutive new born studies - Differences between studies - results by sex and by severity of phenotypic involvement
-
Hook EB, Porter IH, editors. New York: Academic Press.
-
Hook EB, Hamerton JL. 1977. The frequency of chromosome abnormalities detected in consecutive new born studies - differences between studies - results by sex and by severity of phenotypic involvement. In: Hook EB, Porter IH, editors. Population cytogenetics. New York: Academic Press. p 63-79.
-
(1977)
Population Cytogenetics
, pp. 63-79
-
-
Hook, E.B.1
Hamerton, J.L.2
-
19
-
-
0016065167
-
A cytogenetic survey of 11,680 newborn infants
-
Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syume J. 1974. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 37:359-376.
-
(1974)
Ann Hum Genet
, vol.37
, pp. 359-376
-
-
Jacobs, P.A.1
Melville, M.2
Ratcliffe, S.3
Keay, A.J.4
Syume, J.5
-
20
-
-
0019350103
-
Mutation rates of structural chromosome rearrangements in man
-
Jacobs PA. 1981. Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet 33:44-54.
-
(1981)
Am J Hum Genet
, vol.33
, pp. 44-54
-
-
Jacobs, P.A.1
-
21
-
-
0019132131
-
Habitual abortion and translocation (22q22q): Unexpected transmission from a mother to her phenotypically normal daughter
-
Kirkels VGH, Hustinz TWJ, Scheres MJC. 1980. Habitual abortion and translocation (22q22q): Unexpected transmission from a mother to her phenotypically normal daughter. Clin Gen 18:456-461.
-
(1980)
Clin Gen
, vol.18
, pp. 456-461
-
-
Kirkels, V.G.H.1
Hustinz, T.W.J.2
Scheres, M.J.C.3
-
22
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
23
-
-
0022335388
-
The early lethality of autosomal monosomy in the mouse
-
Magnuson T, Debrot S, Dimpfl J, Zweig A, Zamora T, Epstein CJ. 1985. The early lethality of autosomal monosomy in the mouse. J Exp Zool 236:353-360.
-
(1985)
J Exp Zool
, vol.236
, pp. 353-360
-
-
Magnuson, T.1
Debrot, S.2
Dimpfl, J.3
Zweig, A.4
Zamora, T.5
Epstein, C.J.6
-
24
-
-
0026080417
-
Uniparental paternal disomy in Angelman syndrome
-
Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. 1991. Uniparental paternal disomy in Angelman syndrome. Lancet 1:694-697.
-
(1991)
Lancet
, vol.1
, pp. 694-697
-
-
Malcolm, S.1
Clayton-Smith, J.2
Nichols, M.3
Robb, S.4
Webb, T.5
Armour, J.A.L.6
Jeffreys, A.J.7
Pembrey, M.E.8
-
25
-
-
0018875222
-
Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter
-
Palmer CG, Schwartz S, Hodes ME. 1980. Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17:418-422.
-
(1980)
Clin Genet
, vol.17
, pp. 418-422
-
-
Palmer, C.G.1
Schwartz, S.2
Hodes, M.E.3
-
26
-
-
0026725258
-
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 12
-
Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. 1992. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 12. Genomics 13:269-274.
-
(1992)
Genomics
, vol.13
, pp. 269-274
-
-
Petersen, M.B.1
Bartsch, O.2
Adelsberger, P.A.3
Mikkelsen, M.4
Schwinger, E.5
Antonarakis, S.E.6
-
27
-
-
0027430806
-
Nondisjunction of chromosome 15: Origin and recombination
-
Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA. 1993. Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet 53:740-751.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 740-751
-
-
Robinson, W.P.1
Bernasconi, F.2
Mutirangura, A.3
Ledbetter, D.H.4
Langlois, S.5
Malcolm, S.6
Morris, M.A.7
Schinzel, A.A.8
-
28
-
-
0028147431
-
A somatic origin of homologous Robertsonian translocations and isochromosomes
-
Robinson WJ, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Luleci G, et al. 1994. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 290-302
-
-
Robinson, W.J.1
Bernasconi, F.2
Basaran, S.3
Yüksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Farah, L.M.9
Luleci, G.10
-
29
-
-
0030047175
-
Molecular studies of translocations and trisomy involving chromosome 13
-
Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA. 1996. Molecular studies of translocations and trisomy involving chromosome 13. Am J Med Genet 61:158-163.
-
(1996)
Am J Med Genet
, vol.61
, pp. 158-163
-
-
Robinson, W.P.1
Bernasconi, F.2
Dutly, F.3
Lefort, G.4
Romain, D.R.5
Binkert, F.6
Schinzel, A.A.7
-
30
-
-
0025981144
-
A molecular genetic approach to the identification of isochromosomes of chromosome 21
-
Shaffer LG, Jackson-Cook CK, Meyer JM, Brown JA, Spence JE. 1991. A molecular genetic approach to the identification of isochromosomes of chromosome 21. Hum Genet 86:375-382.
-
(1991)
Hum Genet
, vol.86
, pp. 375-382
-
-
Shaffer, L.G.1
Jackson-Cook, C.K.2
Meyer, J.M.3
Brown, J.A.4
Spence, J.E.5
-
31
-
-
0027451806
-
Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations
-
Shaffer LG, McCaskill C, Haller V, Brown JA, Jackson-Cook C. 1993. Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations. Am J Med Genet 47: 1218-1222.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1218-1222
-
-
Shaffer, L.G.1
McCaskill, C.2
Haller, V.3
Brown, J.A.4
Jackson-Cook, C.5
-
32
-
-
0027993346
-
Molecular characterization of de novo secondary trisomy 13
-
Shaffer LG, McCaskill C, Han J-Y, Choo KHA, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL. 1994. Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 968-974
-
-
Shaffer, L.G.1
McCaskill, C.2
Han, J.-Y.3
Choo, K.H.A.4
Cutillo, D.M.5
Donnenfeld, A.E.6
Weiss, L.7
Van Dyke, D.L.8
-
33
-
-
0032511751
-
A systematic search for uniparental disomy in early fetal losses: The results and a review of the literature
-
Shaffer LG, McCaskill C, Adkins K, Hassold TJ. 1998. A systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. Am J Med Genet 79:366-372.
-
(1998)
Am J Med Genet
, vol.79
, pp. 366-372
-
-
Shaffer, L.G.1
McCaskill, C.2
Adkins, K.3
Hassold, T.J.4
-
34
-
-
0028069956
-
Maternal uniparental disomy of chromosome 13 in a phenotypically normal child
-
Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. 1994. Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J Med Genet 31:644-646.
-
(1994)
J Med Genet
, vol.31
, pp. 644-646
-
-
Slater, H.1
Shaw, J.H.2
Dawson, G.3
Bankier, A.4
Forrest, S.M.5
-
35
-
-
0029068235
-
UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13
-
Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. 1995. UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13. J Med Genet 32:493.
-
(1995)
J Med Genet
, vol.32
, pp. 493
-
-
Slater, H.1
Shaw, J.H.2
Dawson, G.3
Bankier, A.4
Forrest, S.M.5
-
36
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. 1988. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Beaudet, A.L.9
-
37
-
-
0029030255
-
Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)
-
Stallard R, Krueger S, James RS, Schwartz S. 1995. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 57:14-18.
-
(1995)
Am J Med Genet
, vol.57
, pp. 14-18
-
-
Stallard, R.1
Krueger, S.2
James, R.S.3
Schwartz, S.4
-
38
-
-
0015423706
-
A simple technique for demonstrating centromeric heterochromatin
-
Sumner AT. 1972. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304-306.
-
(1972)
Exp Cell Res
, vol.75
, pp. 304-306
-
-
Sumner, A.T.1
-
39
-
-
0030016132
-
Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty
-
Tomkins DJ, Roux A-F, Waye J, Freeman VCP, Cox DW, Whelan DT. 1996. Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Eur J Hum Genet 4:143-159.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 143-159
-
-
Tomkins, D.J.1
Roux, A.-F.2
Waye, J.3
Freeman, V.C.P.4
Cox, D.W.5
Whelan, D.T.6
-
40
-
-
0023369619
-
Parental age, and how extra isochromosomes (secondary trisomy) arise
-
Van Dyke DL, Babu VR, Weiss L. 1987. Parental age, and how extra isochromosomes (secondary trisomy) arise. Clin Genet 32:75-80.
-
(1987)
Clin Genet
, vol.32
, pp. 75-80
-
-
Van Dyke, D.L.1
Babu, V.R.2
Weiss, L.3
-
41
-
-
0002522630
-
Isochromosomes and interstitial tandem direct and inverted duplications
-
Daniel A, editor. New York: Liss.
-
Van Dyke DL. 1988. Isochromosomes and interstitial tandem direct and inverted duplications. In: Daniel A, editor. The cytogenetics of mammalian autosomal rearrangements. New York: Liss. p 635-665.
-
(1988)
The Cytogenetics of Mammalian Autosomal Rearrangements
, pp. 635-665
-
-
Van Dyke, D.L.1
-
42
-
-
0025819444
-
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
-
Wang J-CC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. 1991. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 48:1068-1074.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1068-1074
-
-
Wang, J.-C.C.1
Passage, M.B.2
Yen, P.H.3
Shapiro, L.J.4
Mohandas, T.K.5
-
43
-
-
0027531981
-
Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases
-
Wang BBT, Rubin CM, Williams III J. 1993. Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 13:179-190.
-
(1993)
Prenat Diagn
, vol.13
, pp. 179-190
-
-
Wang, B.B.T.1
Rubin, C.M.2
Williams J. III3
-
44
-
-
0023955134
-
Editorial: Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes
-
Warburton D. 1988. Editorial: uniparental disomy: A rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet 42: 215-216.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 215-216
-
-
Warburton, D.1
|