Bibliography
I am aiming to provide viewers with a comprehensive list of over 200 publications to date by myself and colleagues, referenced here and downloadable by Adobe pdf where indicated, but at present this page is still being developed and will be extended over time.
SELECTED PUBLICATIONS 2002-2008
o Hultén MA, Patel SD, Tankimanova M, Westgren M, Papadogiannakis N, Jonsson AM, Iwarsson E:
On the origin of trisomy 21 Down syndrome. Mol Cytogenet 2008, 1:21. Open Access.
o Hagleitner MM,Lankester AP, Maraschio, M, Hultén M et al (2008) Clinical spectrum of Immunodeficiency, Centromeric instability and Facial dysmorphism (ICF-syndrome). J Med Genet 45:93-9
o Old RW, Crea F, Puszyk W, Hultén MA (2007) Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reprod Biomed Online. 15:227-35.
o Legler TJ, Liu Z, Mavrou A, Finning K, Hromadnikova I, Galbiati S, Meaney C, Hultén MA, Crea F, Olsson ML, Maddocks DG, Huang D, Fisher SA, Sprenger-Haussels M, Soussan AA, van der Schoot CE (2007) Workshop report on the extraction of fetal DNA from maternal plasma. Prenat Diagn. 27:824-9
o Knudsen GP, Neilson TC, Pedersen J, Kerr A, Schwartz M, Hultén M, Bailey ME, Orstavik KH (2006). Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. Eur J Hum Genet. 11:1189-94. Epub 2006 Jul 5.
o Tease C, Hartshorne G, Hultén M (2006) Altered patterns of meiotic recombination in human fetal oocytes with asynapsis and/or synaptonemal complex fragmentation at pachytene.Reprod Biomed Online 13:88-95.
o Della Ragione F, Tiunova A, Vacca M, Strazzullo M, Gonzalez E, Armstrong J, Valero R, Campanile C, Pineda M, Hultén M, Monros E, D'Esposito M, Prokhortchouk E (2006) The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. Gene 373:83-9. Epub 2006 Mar 13.
o Osipenko L, Szczepura A, Hultén M ( 2006) SAFE – A New Prenatal Genetic Testing Network of Excellence. Downs Screening News. 13 , 1: 34-35.
o Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hultén M, Schwartz M. (2005) Large genomic rearrangements in MECP2. Hum Mutat.25:324.
o Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hultén M, Jonveaux P, Maraschio P, Megarbane A, Moncla A, Viegas-Pequignot E. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.Hum Mutat. 25:56-63
o Tease C, Hultén MA (2004) Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenet Genome Res. 107:208-15.
o Lindholm C, Murphy BP, Bigbee WL, Bersimbaev RI, Hultén MA Dubrova YE, Salomaa S (2004)
Clycophorin A Somatic Cell Mutations in a Population Living in the proximity of the Semipalatinsk Nuclear test Site. Radiat Res. 162:164-70.
o Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. (2004) An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 12:993-1000.
o Tease C, Hultén MA (2004) Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenet Genome Res 107:208-15.
o Prieto I, Tease C, Pezzi N, Buesa JM, Ortega S, Kremer L, Martinez A, Martinez-A C, Hultén MA, Barbero JL. (2004) Cohesin component dynamics during meiotic prophase I in mammalian oocytes. Chromosome Res. 12, 197-213
o Hultén MA (2004) Combined serum and nuchal translucency screening in the first trimester achieves 85% to 90% detection rate for Down and Edward syndromes. Evidence-based healthcare 8, 82-84
o Tankimanova M. Hultén MA, Tease C (2004) The initiation of homologous chromosome synapsis in mouse foetal oocytes is not directly driven by centromeres and telomere clustering in the bouquet formation. Cytogenet Genome Res. 105, 172-81
o Tease C, Hultén MA (2003) Meiosis. In: Cooper DN (ed). Nature Encyclopedia of the Human Genome 2003, vol. 3, pp. 865-873. London: Nature Publishing Group.
o Hultén MA, Tease C (2003) Genetic maps: direct meiotic analysis. In: Cooper DN (ed). Nature Encyclopedia of the Human Genome vol. 2, pp 882-887. London: Nature Publishing Group.
o Hultén MA, Tease C (2003) Genetic mapping: comparison of direct and indirect approaches. In: Cooper DN (ed). Nature Encyclopedia of the Human Genome, vol. 2, pp. 876-881 London: Nature Publishing Group.
o Hultén MA, Dhanjal S, Pertl B (2003) Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction. 126, 279-97.
o Grimshaw GM, Szczepura A, Hultén M, MacDonald F, Nevin NC, Dutton F, Dhanjal S (2003) Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess. 7, 1-156.
o Barlow AL, Tease C, Hultén MA (2002) Meiotic chromosome pairing in fetal oocytes of trisomy 21 human females. Cytogenet Genome Res 96, 45-51.
o Salomaa S, Lindholm C, Tankimanova MK, Mamyrbaeva ZZh, Koivistoinen A, Hultén M, Mustonen R, Dubrova YE, Bersimbaev RI (2002) Stable chromosome aberrations in the lymphocytes of a population living in the vicinity of the Semipalatinsk nuclear test site. Radiat Res 158, 591-596.
o Lyrakou S, Hultén MA, Hartshorne GM (2002) Growth factors promote meiosis in mouse fetal ovaries in vitro. Mol Hum Reprod 8, 906-911.
o Y.E.Dubrova, R.I.Bersimbaev, L.B.Djansugurova, M.K.Tankimanova, Z.Zh.Mamyrbaeva, R.Mustonen, C.Lindholm, M.Hulten, S.Salomaa (2002). Nuclear weapons tests and human germline mutation rate. Science 295:1037.
o Tease C, Hartshorne GM, Hultén MA (2002)Patterns of meiotic recombination in human fetal oocytes. Am J Hum Genet 70, 1469-1479.
o Dubrova YE, Bersimbaev RI, Djansugurova LB, Tankimanova MK, Mamyrbeva ZZh, Mustonen R, Lindholm C, Hultén M, Saloma S (2002) Nuclear weapons tests and human germline mutation rate. Science 295, 1037.
o Scherthan H, Jerratsch M, Li B, Smith S, Hultén M, Lock T, de Lange T. (2000) Mammalian meiotic telomeres: protein composition and redistribution in relation to nuclear pores. Mol Biol Cell. 12, 4189-203.
o Hultén, M (2001) The Rett syndrome: a proposed mechanism of genetic origin and inheritance. Rett disorder and the Developing Brain. Eds. A. Kerr, I. Witt Engerströn, pp. 11-114, 2001.
o Hultén, M, Barlow, AL, Tease, C (2001) Meiotic studies in humans. Human Cytogenetics constitutional analyses. Third Edition. Ed. D.E. Rooney, pp. 211-236.
o Xu, G, Bestor HB, Bourc’his D, Hsieh CL, Tommerup N, Bugge M, Hultén MA, Qu X,Russo JJ, Viegas-Péquignot E (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402, 187-171.
o Hultén MA, Barlow AL, Tease C (1999) Meiotic studies in Humans. Human Cytogenetics. A practical Approach. Second Edition. Ed. D.E. Rooney.
o Hartshorne GM., Barlow, AL, Child T,J., Barlow DH, Hultén MA (1999) Immunocyto genetic detection of normal and abnormal oocytes in human fetal ovarian tissue in culture. Hum. Repr. 14, 1, 172-182.
o Barlow AL, Hultén MA. Crossing over analysis at pachytene in man (1998) Eur J Hum Genet. 6, 350-8.
o Armstrong SJ, Hultén MA (1998) Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes. Eur J Hum Genet 6, 430-431.
o Verma L, MacDonald F, Leedham P, McConachie M, Dhanjal S, Hultén MA (1998). Rapid and simple prenatal DNA diagnosis of Down’s Syndrome. Lancet 352, 9-12.
o Brown GM, Leversha M, Hultén MA, Ferguson-Smith MA, Affara NA, Furlong RA (1998) Genetic analysis of meiotic recombination in humans by use of sperm typing: Reduced recombination within a heterozygous paracentric inversion o/f chromosome 9q32-q34.3. Am J Hum.Genet 62, 1484-1492.
o Barlow A, Hultén M A (1997) Sequential immunocytogenetics, molecular cytogenetics and transmission electron microscopy of microspread meiosis I oocytes from a human foetal carrier of an unbalanced translocation. Chromosoma 106, 293-303.
Dowloadable Documents
These are all pdf documents (click on the pdf link) and papers will open in Adobe Acrobat Reader. If you experience difficulties please go to the Adobe website and upgrade your pdf reader.
Meiotic segregation analysis by FISH
investigations in sperm and spermatocytes of translocation heterozygotes pdf
Amniocentesis in the West Midlands: report on 1000 births
Webb, Tessa, Edwards, J H, Cameron, A H, Crawley, J Margaret, Hulten, Maj, Rushton, D I, Thompson, R A pdf
On the origin of trisomy 21 Down syndrome. Hultén MA, Patel SD, Tankimanova M, Westgren M, Papadogiannakis N, Jonsson AM, Iwarsson E: Mol Cytogenet 2008, 1:21. Open Access. pdf