-
1
-
-
0034098812
-
Mechanisms leading to uniparental disomy and their clinical consequences
-
Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000;22:452-459.
-
(2000)
Bioessays
, vol.22
, pp. 452-459
-
-
Robinson, W.P.1
-
2
-
-
16944367292
-
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
-
Robinson WP, Barrett IJ, Bernard L, et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 1997;60:917-927.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 917-927
-
-
Robinson, W.P.1
Barrett, I.J.2
Bernard, L.3
-
3
-
-
7144260410
-
Maternal meiosis i non-disjunction of chromosome 15: Dependence of the maternal age effect on level of recombination
-
Robinson WP, Kuchinka BD, Bernasconi F, et al. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 1998;7:1011-1019.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1011-1019
-
-
Robinson, W.P.1
Kuchinka, B.D.2
Bernasconi, F.3
-
4
-
-
0026676193
-
Nondisjunction of chromosome 21: Comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin
-
Lorber BJ, Grantham M, Peters J, Willard HF, Hassold TJ. Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin. Am J Hum Genet 1992;51:1265-1276.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1265-1276
-
-
Lorber, B.J.1
Grantham, M.2
Peters, J.3
Willard, H.F.4
Hassold, T.J.5
-
5
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
6
-
-
33144460067
-
Extended tracts of homozygosity in outbred human populations
-
Gibson J, Morton NE, Collins A. Extended tracts of homozygosity in outbred human populations. Hum Mol Genet 2006;15:789-795.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 789-795
-
-
Gibson, J.1
Morton, N.E.2
Collins, A.3
-
7
-
-
33750911214
-
Long contiguous stretches of homozygosity in the human genome
-
Li LH, Ho SF, Chen CH, et al. Long contiguous stretches of homozygosity in the human genome. Hum Mutat 2006;27:1115-1121.
-
(2006)
Hum Mutat
, vol.27
, pp. 1115-1121
-
-
Li, L.H.1
Ho, S.F.2
Chen, C.H.3
-
8
-
-
22844445143
-
A rapid microarray based whole genome analysis for detection of uniparental disomy
-
Altug-Teber O, Dufke A, Poths S, et al. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat 2005;26:153-159.
-
(2005)
Hum Mutat
, vol.26
, pp. 153-159
-
-
Altug-Teber, O.1
Dufke, A.2
Poths, S.3
-
9
-
-
79953321196
-
UPD detection using homozy-gosity profiling with a SNP genotyping microarray
-
Papenhausen P, Schwartz S, Risheg H, et al. UPD detection using homozy-gosity profiling with a SNP genotyping microarray. Am J Med Genet A 2011;155A:757-768.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 757-768
-
-
Papenhausen, P.1
Schwartz, S.2
Risheg, H.3
|