TY - STD TI - Hassold T, Hall H, Hunt P. The origin of human aneuploidy: where we have been, where we are going. Hum Mol Genet. 2007; Spec No. 2:R203–8. ID - ref1 ER - TY - JOUR AU - Oliver, T. R. AU - Middlebrooks, C. D. AU - Tinker, S. W. AU - Allen, E. G. AU - Bean, L. J. AU - Begum, F. PY - 2014 DA - 2014// TI - An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0099560 DO - 10.1371/journal.pone.0099560 ID - Oliver2014 ER - TY - JOUR AU - Kotzot, D. AU - Utermann, G. PY - 2005 DA - 2005// TI - Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated JO - Am J Med Genet A VL - 136 UR - https://doi.org/10.1002/ajmg.a.30483 DO - 10.1002/ajmg.a.30483 ID - Kotzot2005 ER - TY - JOUR AU - Eggermann, T. AU - Netchine, I. AU - Temple, K. AU - Tümer, Z. AU - Monk, D. AU - Mackay, D. AU - Grønskov, K. AU - Riccio, A. AU - Linglart, A. AU - Maher, E. R. PY - 2015 DA - 2015// TI - Congenital imprinting disorders: EUCID.Net – a network to decipher their aetiology and Congenital imprinting disorderic and clinical care. Clin JO - Epigenetics VL - 7 UR - https://doi.org/10.1186/s13148-015-0143-8 DO - 10.1186/s13148-015-0143-8 ID - Eggermann2015 ER - TY - JOUR AU - Eggermann, T. AU - Soellner, L. AU - Buiting, K. AU - Kotzot, D. PY - 2015 DA - 2015// TI - Uniparental Disomy and mosaicism in context with pregnancy JO - Trends Mol Med VL - 21 UR - https://doi.org/10.1016/j.molmed.2014.11.010 DO - 10.1016/j.molmed.2014.11.010 ID - Eggermann2015 ER - TY - JOUR AU - Sharp, A. AU - Moore, G. AU - Eggermann, T. PY - 2001 DA - 2001// TI - Evidence from skewed X inactivation for trisomy mosaicism in silver-Russell syndrome JO - Eur J Hum Genet VL - 9 UR - https://doi.org/10.1038/sj.ejhg.5200740 DO - 10.1038/sj.ejhg.5200740 ID - Sharp2001 ER - TY - JOUR AU - Petit, F. AU - Holder-Espinasse, M. AU - Duban-Bedu, B. AU - Bouquillon, S. AU - Boute-Benejean, O. AU - Bazin, A. AU - Rouland, V. PY - 2012 DA - 2012// TI - Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell-silver syndrome JO - Clin Genet VL - 81 UR - https://doi.org/10.1111/j.1399-0004.2010.01621.x DO - 10.1111/j.1399-0004.2010.01621.x ID - Petit2012 ER - TY - JOUR AU - Robinson, W. P. AU - Bernasconi, F. AU - Mutirangura, A. AU - Ledbetter, D. H. AU - Langlois, S. AU - Malcolm, S. AU - Morris, M. A. PY - 1993 DA - 1993// TI - Nondisjunction of chromosome 15: origin and recombination JO - Am J Hum Genet VL - 53 ID - Robinson1993 ER - TY - JOUR AU - Robinson, W. P. AU - Kuchinka, B. D. AU - Bernasconi, F. AU - Petersen, M. B. AU - Schulze, A. AU - Brondum-Nielsen, K. PY - 1998 DA - 1998// TI - Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination JO - Hum Mol Genet VL - 7 UR - https://doi.org/10.1093/hmg/7.6.1011 DO - 10.1093/hmg/7.6.1011 ID - Robinson1998 ER - TY - JOUR AU - Schroeder, C. AU - Sturm, M. AU - Dufke, A. AU - Mau-Holzmann, U. AU - Eggermann, T. AU - Poths, S. PY - 2013 DA - 2013// TI - UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays JO - Bioinformatics VL - 29 UR - https://doi.org/10.1093/bioinformatics/btt174 DO - 10.1093/bioinformatics/btt174 ID - Schroeder2013 ER - TY - JOUR AU - Eggermann, T. AU - Wollmann, H. A. AU - Kuner, R. AU - Eggermann, K. AU - Enders, H. AU - Kaiser, P. AU - Ranke, M. B. PY - 1997 DA - 1997// TI - Molecular studies in 37 silver-Russell syndrome patients: frequency and etiology of uniparental disomy JO - Hum Genet VL - 100 UR - https://doi.org/10.1007/s004390050526 DO - 10.1007/s004390050526 ID - Eggermann1997 ER - TY - JOUR AU - Mergenthaler, S. AU - Wollmann, H. A. AU - Burger, B. AU - Eggermann, K. AU - Kaiser, P. AU - Ranke, M. B. AU - Schwanitz, G. AU - Eggermann, T. PY - 2000 DA - 2000// TI - Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature JO - Ann Genet VL - 43 UR - https://doi.org/10.1016/S0003-3995(00)00010-1 DO - 10.1016/S0003-3995(00)00010-1 ID - Mergenthaler2000 ER - TY - JOUR AU - Eggermann, T. AU - Schönherr, N. AU - Jäger, S. AU - Spaich, C. AU - Ranke, M. B. AU - Wollmann, H. A. AU - Binder, G. PY - 2008 DA - 2008// TI - Segmental maternal UPD(7q) in silver-Russell syndrome JO - Clin Genet VL - 74 UR - https://doi.org/10.1111/j.1399-0004.2008.01057.x DO - 10.1111/j.1399-0004.2008.01057.x ID - Eggermann2008 ER - TY - JOUR AU - Begemann, M. AU - Spengler, S. AU - Kordass, U. AU - Schröder, C. AU - Eggermann, T. PY - 2012 DA - 2012// TI - Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation JO - Am J Med Genet A VL - 158A UR - https://doi.org/10.1002/ajmg.a.34412 DO - 10.1002/ajmg.a.34412 ID - Begemann2012 ER - TY - JOUR AU - Netchine, I. AU - Rossignol, S. AU - Dufourg, M. N. AU - Azzi, S. AU - Rousseau, A. AU - Perin, L. AU - Houang, M. PY - 2007 DA - 2007// TI - 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-silver syndrome: clinical scoring system and epigenetic-phenotypic correlations JO - J Clin Endocrinol Metab VL - 92 UR - https://doi.org/10.1210/jc.2007-0354 DO - 10.1210/jc.2007-0354 ID - Netchine2007 ER - TY - JOUR AU - Azzi, S. AU - Salem, J. AU - Thibaud, N. AU - Chantot-Bastaraud, S. AU - Lieber, E. AU - Netchine, I. AU - Harbison, M. D. PY - 2015 DA - 2015// TI - A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in silver-Russell syndrome JO - J Med Genet VL - 52 UR - https://doi.org/10.1136/jmedgenet-2014-102979 DO - 10.1136/jmedgenet-2014-102979 ID - Azzi2015 ER - TY - JOUR AU - Steemers, F. J. AU - Chang, W. AU - Lee, G. AU - Barker, D. L. AU - Shen, R. AU - Gunderson, K. L. PY - 2006 DA - 2006// TI - Whole-genome genotyping with the single-base extension assay JO - Nat Methods VL - 3 UR - https://doi.org/10.1038/nmeth842 DO - 10.1038/nmeth842 ID - Steemers2006 ER - TY - JOUR AU - Kotzot, D. PY - 2008 DA - 2008// TI - Maternal uniparental disomy 7 and silver-Russell syndrome - clinical update and comparison with other subgroups JO - Eur J Med Genet VL - 51 UR - https://doi.org/10.1016/j.ejmg.2008.06.001 DO - 10.1016/j.ejmg.2008.06.001 ID - Kotzot2008 ER - TY - STD TI - Gardner RJ, Sutherland GR, Shaffer LG. Chromomal aberrations in men, 4th ed. Oxford Monographs on Medical Genetics. 2011; ID - ref19 ER - TY - JOUR AU - Mergenthaler, S. AU - Sharp, A. AU - Ranke, M. B. AU - Kalscheuer, V. M. AU - Wollmann, H. A. AU - Eggermann, T. PY - 2001 DA - 2001// TI - Gene dosage analysis in silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13 JO - Genet Test VL - 5 UR - https://doi.org/10.1089/10906570152742335 DO - 10.1089/10906570152742335 ID - Mergenthaler2001 ER - TY - JOUR AU - Monk, D. AU - Hitchins, M. AU - Russo, S. AU - Preece, M. AU - Stanier, P. AU - Moore, G. E. PY - 2001 DA - 2001// TI - No evidence for mosaicism in silver-Russell syndrome JO - J Med Genet VL - 38 UR - https://doi.org/10.1136/jmg.38.4.e11 DO - 10.1136/jmg.38.4.e11 ID - Monk2001 ER - TY - JOUR AU - Kalousek, D. K. AU - Langlois, S. AU - Robinson, W. P. AU - Telenius, A. AU - Bernard, L. AU - Barrett, I. J. AU - Howard-Peebles, P. N. AU - Wilson, R. D. PY - 1996 DA - 1996// TI - Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases JO - Am J Med Genet VL - 65 UR - https://doi.org/3.0.CO;2-U DO - 3.0.CO;2-U ID - Kalousek1996 ER - TY - JOUR AU - Keren, B. AU - Chantot-Bastaraud, S. AU - Brioude, F. AU - Mach, C. AU - Fonteneau, E. AU - Azzi, S. AU - Depienne, C. AU - Brice, A. AU - Netchine, I. AU - Bouc, Y. AU - Siffroi, J. P. AU - Rossignol, S. PY - 2013 DA - 2013// TI - SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy JO - Eur J Med Genet VL - 56 UR - https://doi.org/10.1016/j.ejmg.2013.06.005 DO - 10.1016/j.ejmg.2013.06.005 ID - Keren2013 ER - TY - JOUR AU - Poke, G. AU - Doody, M. AU - Prado, J. AU - Gattas, M. PY - 2013 DA - 2013// TI - Segmental maternal UPD6 with prenatal growth restriction JO - Mol Syndromol VL - 3 ID - Poke2013 ER - TY - JOUR AU - Andrade, R. C. AU - Nevado, J. PY - 2014 DA - 2014// TI - De Faria Domingues de lima MA, Saad T, Moraes L, Chimelli L, Lapunzina P, Vargas FR. Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy JO - Am J Med Genet A VL - 164A UR - https://doi.org/10.1002/ajmg.a.36716 DO - 10.1002/ajmg.a.36716 ID - Andrade2014 ER - TY - STD TI - Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet. 1999;36:457–60. ID - ref26 ER -