-
1
-
-
0033613991
-
Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
-
Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG. 1999. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 82: 275-281.
-
(1999)
Am J Med Genet
, vol.82
, pp. 275-281
-
-
Berend, S.A.1
Feldman, G.L.2
McCaskill, C.3
Czarnecki, P.4
Van Dyke, D.L.5
Shaffer, L.G.6
-
2
-
-
0033926871
-
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes
-
Berend SA, Horwitz J, McCaskill C, Shaffer LG. 2000. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet 66: 1787-1793.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1787-1793
-
-
Berend, S.A.1
Horwitz, J.2
McCaskill, C.3
Shaffer, L.G.4
-
3
-
-
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
-
4
-
-
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
-
5
-
-
0034175850
-
Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas
-
Grati FR, Sirchia SM, Garagiola I, et al. 2000. Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas. Cancer Genet Cytogenet 118: 57-61.
-
(2000)
Cancer Genet Cytogenet
, vol.118
, pp. 57-61
-
-
Grati, F.R.1
Sirchia, S.M.2
Garagiola, I.3
-
6
-
-
0034094479
-
Prenatal UPD testing survey in Robertsonian translocations
-
Gualandi F, Sensi A, Trabanelli C, Falciano F, Bonfatti A, Calzolari E. 2000. Prenatal UPD testing survey in Robertsonian translocations. Prenat Diagn 20: 465-468.
-
(2000)
Prenat Diagn
, vol.20
, pp. 465-468
-
-
Gualandi, F.1
Sensi, A.2
Trabanelli, C.3
Falciano, F.4
Bonfatti, A.5
Calzolari, E.6
-
7
-
-
0016588841
-
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities
-
Hamerton JL, Canning N, Ray M, Smith S. 1975. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 8: 223-243.
-
(1975)
Clin Genet
, vol.8
, pp. 223-243
-
-
Hamerton, J.L.1
Canning, N.2
Ray, M.3
Smith, S.4
-
8
-
-
0036757284
-
Robertsonian translocations: Mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations
-
Kim SR, Shaffer LG. 2002. Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations. Genet Test 6: 163-168.
-
(2002)
Genet Test
, vol.6
, pp. 163-168
-
-
Kim, S.R.1
Shaffer, L.G.2
-
9
-
-
0036707790
-
Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15
-
Kotzot D. 2002. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. Am J Med Genet 111: 366-375.
-
(2002)
Am J Med Genet
, vol.111
, pp. 366-375
-
-
Kotzot, D.1
-
10
-
-
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
-
11
-
-
0026080417
-
Uniparental paternal disomy in Angelman's syndrome
-
Malcolm S, Clayton-Smith J, Nichols M, et al. 1991. Uniparental paternal disomy in Angelman's syndrome. Lancet 337: 694-697.
-
(1991)
Lancet
, vol.337
, pp. 694-697
-
-
Malcolm, S.1
Clayton-Smith, J.2
Nichols, M.3
-
12
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
-
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. 1989. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342: 281-285.
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
13
-
-
0029788688
-
Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation
-
Page SL, Shin JC, Han JY, Choo KH, Shaffer LG. 1996. Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 5: 1279-1288.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1279-1288
-
-
Page, S.L.1
Shin, J.C.2
Han, J.Y.3
Choo, K.H.4
Shaffer, L.G.5
-
14
-
-
0001564674
-
UPD risk assessment: Three cytogenetic subgroups
-
Papenhausen PR, Tepperberg JH, Mowrey PN, et al. 1999. UPD risk assessment: three cytogenetic subgroups. Am J Hum Genet 65(Suppl.): 1996. (SUPPL 4): A353.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
, pp. 1996
-
-
Papenhausen, P.R.1
Tepperberg, J.H.2
Mowrey, P.N.3
-
15
-
-
10844259145
-
-
Papenhausen PR, Tepperberg JH, Mowrey PN, et al. 1999. UPD risk assessment: three cytogenetic subgroups. Am J Hum Genet 65(Suppl.): 1996. (SUPPL 4): A353.
-
Am J Hum Genet
, Issue.SUPPL. 4
-
-
-
16
-
-
0036023277
-
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: Risk estimate
-
Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. 2002. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat Diagn 22: 649-651.
-
(2002)
Prenat Diagn
, vol.22
, pp. 649-651
-
-
Silverstein, S.1
Lerer, I.2
Sagi, M.3
Frumkin, A.4
Ben-Neriah, Z.5
Abeliovich, D.6
-
17
-
-
0030016132
-
Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty
-
Tomkins DJ, Roux AF, Waye J, Freeman VC, 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: 153-159.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 153-159
-
-
Tomkins, D.J.1
Roux, A.F.2
Waye, J.3
Freeman, V.C.4
Cox, D.W.5
Whelan, D.T.6
-
18
-
-
0025819444
-
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
-
Wang JC, 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: 1069-1074.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1069-1074
-
-
Wang, J.C.1
Passage, M.B.2
Yen, P.H.3
Shapiro, L.J.4
Mohandas, T.K.5
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