Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal surveySENSI, A; CAVANI, S; SAVIN, E et al.Prenatal diagnosis. 2004, Vol 24, Num 8, pp 647-652, issn 0197-3851, 6 p.Article

Pre- and postnatal findings in trisomy 17 mosaicismUTERMANN, Barbara; RIEGEL, Mariluce; TARALCZAK, Malgorzata et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 15, pp 1628-1636, issn 1552-4825, 9 p.Article

Growth parameters in maternal uniparental disomy 7 and 14KOTZOT, Dieter.European journal of pediatrics. 2007, Vol 166, Num 11, pp 1143-1149, issn 0340-6199, 7 p.Article

Uniparental disomy (UPD) other than 15 : Phenotypes and bibliography updatedKOTZOT, Dieter; UTERMANN, Gerd.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 287-305, issn 0148-7299, 19 p.Article

Case of stargardt disease caused by uniparental isodisomyFINGERT, John H; ELIASON, David A; PHILLIPS, Nicole C et al.Archives of ophthalmology (1960). 2006, Vol 124, Num 5, pp 744-745, issn 0003-9950, 2 p.Article

UPD Detection Using Homozygosity Profiling With a SNP Genotyping MicroarrayPAPENHAUSEN, Peter; SCHWARTZ, Stuart; TEPPERBERG, James et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 757-768, issn 1552-4825, 12 p.Article

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villiGRATI, Francesca R; GRIMI, Beatrice; MAGGI, Federico et al.European journal of human genetics. 2006, Vol 14, Num 3, pp 282-288, issn 1018-4813, 7 p.Article

An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12BOISSEAU, Pierre; GIRAUD, Mathilde; TERNISIEN, Catherine et al.Haematologica (Roma). 2011, Vol 96, Num 10, pp 1567-1568, issn 0390-6078, 2 p.Article

Constitutional UPD for chromosome llpl5 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologiesSHUMAN, Cheryl; SMITH, Adam C; SQUIRE, Jeremy A et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 14, pp 1497-1503, issn 1552-4825, 7 p.Article

Maternale uniparentale Disomie 14: Ein weiteres Imprintingsyndrom = Maternal uniparental disomy 14. Another imprinting syndromeEGGERMANN, T; WOLLMANN, H. A; ZERRES, K et al.Monatsschrift für Kinderheilkunde. 2002, Vol 150, Num 7, pp 856-865, issn 0026-9298, 9 p.Article

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18KARIMINEJAD, Ariana; KARIMINEJAD, Roxana; MOSHTAGH, Azadeh et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 555-560, issn 1018-4813, 6 p.Article

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicismLANGLOIS, Sylvie; YONG, Paul J; SIU LI YONG et al.Prenatal diagnosis. 2006, Vol 26, Num 6, pp 548-558, issn 0197-3851, 11 p.Article

Mosaic 22q13 deletions : evidence for concurrent mosaic segmental isodisomy and gene conversionBONAGLIA, Maria Clara; GIORDA, Roberto; DUNHAM, Ian et al.European journal of human genetics. 2009, Vol 17, Num 4, pp 426-433, issn 1018-4813, 8 p.Article

Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocationsRUGGERI, Anna; DULCETTI, Francesca; MIOZZO, Monica et al.Prenatal diagnosis. 2004, Vol 24, Num 12, pp 997-1000, issn 0197-3851, 4 p.Article

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotypeFLANAGAN, S. E; MACKAY, D. J. G; FLYNN, D. P et al.Diabetologia (Berlin). 2013, Vol 56, Num 1, pp 218-221, issn 0012-186X, 4 p.Article

Maternal uniparental disomy 7 and Silver-Russell syndrome : Clinical update and comparison with other subgroupsKOTZOT, Dieter.European journal of medical genetics. 2008, Vol 51, Num 5, pp 444-451, issn 1769-7212, 8 p.Article

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndromeCOOPER, Wendy N; CURLEY, Rebecca; MACDONALD, Fiona et al.Genomics (San Diego, Calif.). 2007, Vol 89, Num 5, pp 613-617, issn 0888-7543, 5 p.Article

Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrierBRUYERE, H; WILSON, R. D; LANGLOIS, S et al.Fetal diagnosis and therapy. 2004, Vol 19, Num 5, pp 399-403, issn 1015-3837, 5 p.Article

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomyDAWSON, A. J; CHERNOS, J; MCGOWAN-JORDAN, J et al.Clinical genetics. 2011, Vol 79, Num 2, pp 118-124, issn 0009-9163, 7 p.Article

Prenatal testing for uniparental disomy : indications and clinical relevanceKOTZOT, D.Ultrasound in obstetrics & gynecology. 2008, Vol 31, Num 1, pp 100-105, issn 0960-7692, 6 p.Article

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotypeCHU, Cathy; SCHWARTZ, Stuart; MCPHERSON, Elizabeth et al.American journal of medical genetics. 2004, Vol 127A, Num 2, pp 167-171, issn 0148-7299, 5 p.Article

Genomic analysis of acute myeloid leukemia: potential for new prognostic indicatorsEKLUND, Elizabeth A.Current opinion in hematology. 2010, Vol 17, Num 2, pp 75-78, issn 1065-6251, 4 p.Article

Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3TOUTAIN, Jérôme; LABEAU-GAÜZERE, Cécile; BARNETCHE, Thomas et al.Prenatal diagnosis. 2010, Vol 30, Num 12-13, pp 1155-1164, issn 0197-3851, 10 p.Article

Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogeneticsHEINRICHS, S; KULKARNI, R. V; GARCIA-MANERO, G et al.Leukemia. 2009, Vol 23, Num 9, pp 1605-1613, issn 0887-6924, 9 p.Article

Genomic imprinting, uniparental disomy and foetal growthPREECE, M. A; MOORE, G. E.Trends in endocrinology and metabolism. 2000, Vol 11, Num 7, pp 270-275, issn 1043-2760Article