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Number of items: 32.
Journal Article
Hultén, M. A., Jonasson, Jon, Iwarsson, Erik, Uppal, P, Vorsanova, S. G., Yurov, Y. B. and Iourov, I. Y. (2013) Trisomy 21 Mosaicism : we may all have a touch of down syndrome. Cytogenetic and Genome Research, Volume 139 (Number 3). pp. 189-192. doi:10.1159/000346028 ISSN 1424-8581.
Hultén, Maj A., Jonasson, Jon, Westgren, Magnus, Jonsson, Anna Maria, Papadogiannakis, Nikos and Iwarsson, Erik (2012) Comment on “Origin of trisomy : no evidence to support the ovarian mosaicism theory”. Prenatal Diagnosis, Volume 32 (Number 12). p. 1221. doi:10.1002/pd.3958 ISSN 0197-3851.
Hultén, Maj A. (2011) On the origin of crossover interference : a chromosome oscillatory movement (COM) model. Molecular Cytogenetics, Vol.4 (No.10). doi:10.1186/1755-8166-4-10 ISSN 1755-8166.
Della Ragione, Floriana, Mastrovito, Paola, Campanile, Ciro, Conti, Anna, Papageorgiou, Elisavet A., Hultén, Maj A., Patsalis, Philippos C., Carter, Nigel P. and D'Esposito, Maurizio (2010) Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies. The Journal of Molecular Diagnostics, Vol.12 (No.6). pp. 797-807. doi:10.2353/jmoldx.2010.090199 ISSN 1525-1578.
Hultén, Maj A., Jonasson, Jon, Nordgren, Ann and Iwarsson, Erik (2010) Germinal and somatic trisomy 21 mosaicism : how common is it, what are the implications for individual carriers and how does it come about? Current Genomics, Vol.11 (No.6). pp. 409-419. doi:10.2174/138920210793176056 ISSN 1389-2029.
Hultén, Maj A., Patel, Suketu D., Westgren, Magnus, Papadogiannakis, Nikos, Jonsson, Anna Maria, Jonasson, Jon and Iwarsson, Erik (2010) On the paternal origin of trisomy 21 Down syndrome. Molecular Cytogenetics, Vol.3 (No.1). p. 4. doi:10.1186/1755-8166-3-4 ISSN 1755-8166.
Hu, Suwei, Zhong, Yanfang, Hao, Yuantao, Luo, Minqi, Zhou, Yan, Guo, Hui, Liao, Weijiao, Wan, Desheng, Wei, Haiyun, Gao, Yueting, Shan, Jinglan, Hu, Bin, Hultén, Maj A. and Wang, Yiming (2009) Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese. Clinical Chemistry and Laboratory Medicine, Vol.47 (No.10). pp. 1239-1245. doi:10.1515/CCLM.2009.284 ISSN 1434-6621.
Papageorgiou, Elisavet A., Fiegler, Heike, Rakyan, Vardhman, Beck, Stephan, Hultén, Maj A., Lamnissou, Klea, Carter, Nigel P. and Patsalis, Philippos C. (2009) Sites of differential DNA methylation between placenta and peripheral blood molecular markers for noninvasive prenatal diagnosis of aneuploidies. American Journal of Pathology, Vol.174 (No.5). pp. 1609-1618. doi:10.2353/ajpath.2009.081038 ISSN 0002-9440.
Hultén, Maj A., Patel, Suketu D., Tankimanova, Maira, Westgren, Magnus, Papadogiannakis, Nikos, Jonsson, Anna Maria and Iwarsson, Erik (2008) On the origin of trisomy 21 Down syndrome. Molecular Cytogenetics, Vol.1 (No.21). doi:10.1186/1755-8166-1-21 ISSN 1755-8166.
Hagleitner, M. M., Lankester, A., Maraschio, P., Hultén, Maj A., Fryns, J. P., Schuetz, C., Gimelli, G., Davies, E. G., Gennery, A., Belohradsky, B. H. et al.
(2008)
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Journal of Medical Genetics, Vol.45
(No.2).
pp. 93-99.
doi:10.1136/jmg.2007.053397
ISSN 0022-2593.
Legler, Tobias J., Liu, Zhong, Mavrou, Ariadni, Finning, Kirstin, Hromadnikova, Ilona, Galbiati, Silvia, Meaney, Cathy, Hultén, Maj A., Crea, Francesco , Olsson, Martin L., Maddocks, Deborah G., Huang, Dorothy, Fisher, Sylvia Armstrong, Sprenger-Haussels, Markus, Soussan, Aicha Ait and van der Schoot, C. Ellen (2007) Workshop report on the extraction of foetal DNA from maternal plasma. Prenatal Diagnosis, Vol.27 (No.9). pp. 824-829. doi:10.1002/pd.1783 ISSN 0197-3851.
Old, R. W., Crea, Francesco, Puszyk, William Matthew and Hultén, Maj A. (2007) Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reproductive Biomedicine Online, Vol.15 (No.2). pp. 227-235. ISSN 1472-6483.
Knudsen, Gun Peggy S., Neilson, Tracey C. S., Pedersen, June, Kerr, Alison, Schwartz, Marianne, Hultén, Maj A., Bailey, Mark E. S. and Orstavik, Karen Helene (2006) Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. EUROPEAN JOURNAL OF HUMAN GENETICS, 14 (11). pp. 1189-1194. doi:10.1038/sj.ejhg.5201682 ISSN 1018-4813.
Hultén, Maj A. (2006) Altered patterns of meiotic recombination in human fetal oocytes with asynapsis and/or synaptonemal complex fragmentation at pachytene. REPRODUCTIVE BIOMEDICINE ONLINE, 13 (1). pp. 88-95. ISSN 1472-6483.
Della Ragione, Floriana, Tiunova, Anna, Vacca, Marcella, Strazzullo, Maria, González, Eva, Armstrong, Judith, Valero, Rebecca, Campanile, Ciro, Pineda, Mercè, Hultén, Maj A., Monros, Eugenia, D'Esposito, Maurizio and Prokhortchouk, Egor (2006) The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. Gene, Volume 373 . pp. 83-89. doi:10.1016/j.gene.2006.01.015 ISSN 0378-1119.
Tease, C. and Hultén, Maj A. (2004) Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenetic and Genome Research, Vol.107 (No.3-4). pp. 208-215. doi:10.1159/000080599 ISSN 1424-8581.
Lyrakou, S., Hultén, Maj A. and Hartshorne, Geraldine M. (2002) Growth factors promote meiosis in mouse fetal ovaries in vitro. Molecular Human Reproduction, Vol.8 (No.10). pp. 906-911. doi:10.1093/molehr/8.10.906 ISSN 1360-9947.
Conference Item
Middlemiss, Prisca, Wynn, S. L. and Hultén, Maj A. (2009) Development of a set of family-friendly leaflets on rare chromosome disorders for use by families and professionals. In: British Human Genetics Conference, University of Warwick, England, AUG 31-SEP 02, 2009. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S106-S106. ISSN 0022-2593.
Stergianou, K., Carpenter, K., Ocraft, K., Cross, G., Hultén, Maj A. and Parkin, T. (2009) Evaluation of technologies for detection and quantification of foetal DNA in maternal plasma in a clinical setting. In: British Human Genetics Conference, University of Warwick, England, September 23-25, 2002. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S28-S28. ISSN 0022-2593.
Hultén, Maj A. (2009) Introduction to session "Trisomy 21 Down Syndrome, fifty years on: where are we now?". In: British Human Genetics Conference, University of Warwick, England, AUG 31-SEP 02, 2009. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S21-S21. ISSN 0022-2593.
Hultén, Maj A. and Patel, S. (2009) On the origin of constitutional aneuploidy: ovarian aneuploidy mosaicism. In: British Human Genetics Conference, University of Warwick, England, August 31-SEP 02, 2009. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S97-S97. ISSN 0022-2593.
Hultén, Maj A. and Iwarsson, Erik (2009) On the origin of trisomy 21-the evidence from oocyte and polar body analysis. In: British Human Genetics Conference, University of Warwick, England, AUG 31-SEP 02, 2009. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S97-S97. ISSN 0022-2593.
Moffat, Kevin G., Patel, S. and Hultén, Maj A. (2009) Trisomy21, Down Syndrome and the origin of Alzheimer's disease. In: British Human Genetics Conference, University of Warwick, England, Aug 31 - Sep 02 2009. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S22-S22. ISSN 0022-2593.
Stergianou, K., Carpenter, K., Ocraft, K., Cross, G., Hultén, Maj A. and Parkin, T. (2009) Evaluation of technologies for detection and quantification of foetal DNA in maternal plasma in a clinical setting. In: 7th European Cytogenetics Conference, Stockholm, Sweden, Jul 04-07, 2009. Published in: Chromosome Research, Vol.17 (Suppl. 1). p. 221. doi:10.1007/s10577-009-9043-0 ISSN 0967-3849.
Hultén, Maj A. (2009) Inborn aneuploidy: how does it come about? The maternal side. In: 7th European Cytogenetics Conference, Stockholm, Sweden, July 04-07, 2009. Published in: Chromosome Research, Vol.17 (Suppl. 1). p. 17. doi:10.1007/s10577-009-9042-1 ISSN 0967-3849.
Hultén, Maj A. and Iwarsson, Erik (2009) On the origin of constitutional aneuploidy. In: 7th European Cytogenetics Conference, Stockholm, Sweden, July 04-07, 2009. Published in: Chromosome Research, Vol.17 (Suppl. 1). pp. 108-109. doi:10.1007/s10577-009-9043-0 ISSN 0967-3849.
Hultén, Maj A. (2008) On the origin of Down syndrome. In: British Human Genetics Conference, Univ York, York, England, Sep 15-17, 2008. Published in: Journal of Medical Genetics, Vol.45 (Suppl.1). S32-S32. ISSN 0022-2593.
Hultén, Maj A., Crea, F., Puszyk, W. M. and Old, R. W. (2007) Towards noninvasive prenatal diagnosis of trisomy 21 Down syndrome. In: 6th European Cytogenetics Conference, Istanbul, Turkey, 7-10 Jul 2007. Published in: Chromosome Research, Volume 15 (Supplement 1). pp. 242-243. ISSN 0967-3849.
Journal Item
Hultén, Maj A., Patel, Suketu, Jonasson, Jon and Iwarsson, Erik (2010) On the origin of the maternal age effect in trisomy 21 Down syndrome : the Oocyte Mosaicism Selection model. Reproduction, Vol.139 (No.1). pp. 1-9. ISSN 1470-1626 doi:10.1530/REP-09-0088
Hultén, Maj A. (2009) Non-invasive prenatal diagnosis: another new concept in need of a definition. Reproductive Biomedicine Online, Vol.19 (No.5). p. 756. ISSN 1472-6483 doi:10.1016/j.rbmo.2009.09.010
Hultén, Maj A. and Old, R. W. (2007) Non-invasive prenatal diagnosis of Down's syndrome. Lancet, Vol.369 (No.9578). p. 1997. ISSN 0140-6736 doi:10.1016/S0140-6736(07)60934-9
Grimshaw, G. M., Szczepura, Ala, Hultén, Maj A., MacDonald, F. and Nevin, N. C. (2003) Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technology Assessment, Vol.7 (No.10). ISSN 1366-5278
This list was generated on Thu Mar 28 09:25:37 2024 GMT.