Publications from 2000 onwards relevant to PGD
2000
Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in
patients undergoing assisted conception (2000)
Hum Genet 106, 620-626.
R Mahmood, CH Brierley, MJW Faed, JA Mills, JDA Delhanty.
FISH analysis on day 5 post-insemination of human arrested and blastocyst stage
embryos (2000)
Prenat Diagn 20, 552-560.
P Ruangvutilert, JDA Delhanty, P Serhal, M Simopoulou, CH Rodeck, JC Harper
A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA
dehydrogenase (MCAD) deficiency (2000)
Prenat Diagn 20, 593-598.
A Ioulianos, D Wells, JC Harper, JDA Delhanty
Comprehensive chromosomal analysis of human preimplantation
Embryos using whole genome analysis and CGH (2000)
Mol Human Reprod 6, 1055-1062
D Wells & JDA Delhanty
Dde 1 RFLP may falsify linkage analysis of hereditary retinoblastoma when using SSCP
of p88PRO.6 region. (2000)
Anticancer Res 20, 5233-5236.
MW Suetterlin, P Abou Sleiman, E Price, Z Onadim, J Delhanty.
2001
Preimplantation genetic diagnosis: applications for molecular medicine (2001)
Trends in Molecular Medicine 7, 23-30
Dagan Wells & Joy D A Delhanty
Aneuploidy screening in direct chorionic villus amples by fluorescent in situ
hybridisation: the use of commercial probes in a diagnostic setting. (2001)
British Journal of Obstetrics and Gynaecology 108, 215-218
Claire R Quilter, Samantha Holman, Raiham M Y A Al-Hammadi, Danae Theodorides,
Rosalind J Hastings, Joy D A Delhanty
A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using
multiplex fluorescent PCR. (2001)
Prenat Diagn 21, 223-232
Wirawit Piyamongkol, Joyce C Harper, Jon K Sherlock, Alpesh Doshi, Paul F Serhal,
Joy D A Delhanty, Dagan Wells.
Preimplantation genetics: an explanation for poor human fertility? (2001)
Ann Hum Genet 65, 331-338
J D A Delhanty
2002
Pregnancy following preimplantation diagnosis for Crouzon syndrome (2002)
Mol Hum Reprod 8, 304-309
P M Abou-Sleiman, A Apessos, J C Harper, P Serhal, JDA Delhanty
Preimplantation genetic diagnosis for single gene disorders: experience with 5 single
gene disorders (2002)
Prenat Diagn 22: 525-533
JC Harper, D Wells, W Piyamongkol, P Abou-Sleiman, A Apessos, A Ioulianos, M
Davis, A Doshli, P Serhal, M Ranieri, C Rodeck, & JDA Delhanty
First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2)
(2002)
Prenat Diagn 22: 519-524
P M Abou-Sleiman, A Apessos, JC Harper, P Serhal, RML Winston, & JDA Delhanty
Preimplantation genetic diagnosis (2002)
Reproductive Medicine Review 10 1: 3-20
JDA Delhanty and JC Harper
Preimplantation genetic diagnosis: an alternative to prenatal diagnosis
(invited editorial) (2002)
Expert Rev Mol Diag 2(5): 395-399
JDA Delhanty and D Wells
First clinical application of comparative genomic hybridization and polar body testing for
preimplantation genetic diagnosis of aneuploidy (2002)
Fertility and Sterility 78 (3) : 543-49
D Wells, T Escudero, B Levy, K Hirschhorn, JDA Delhanty S Munné
2003
Laboratory preimplantation genetic diagnosis (2003)
The Lancet 361; 1480
JDA Delhanty
Preimplantation genetic diagnosis of chromosome abnormalities: implications from the
outcome for couples with chromosomal rearrangements. (2003)
Prenatal Diagnosis 23 (8) 652-662
M Simopoulou, JC Harper, E Fragouli, A Mantzouratou, BE Speyer, P Serhal, DM
Ranieri, A Doshi, J Henderson, CH Rodeck, JDA Delhanty.
Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms.
(2003)
Prenatal Diagnosis 23 (8) 663-668
S Cupisti, C M Conn, E Fragouli, K Whalley, J A Mills, M J W Faed, J D
A Delhanty.
2004
Genetics of gametes and embryos (2004)
European J Obstetrics & Gynecology and Reproductive Biology 11 5S: 580-584
Harper JC, Pergament E, Delhanty JDA
PGD for reciprocal translocations (Editorial comment) (2004)
Prenatal Diagnosis 24: 552
Delhanty JDA
2005
Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to
mosaic aneuploidy. (2005)
Hum Reprod 20: 129-137
Daphnis DD, Delhanty JDA, Jerkovic S, Geyer J, Craft I, Harper JC.
Expression of genes regulating chromosome segregation, the cell cycle and apoptosis
during human preimplantation development. (2005)
Hum Reprod 20:1339-1348
Wells D, Bermudez MG, Steuerwald N, Thornhill AR, Malter H, Delhanty JDA, Cohen J.
Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis.
(2005) (Single topic issue on Cytogenetics of Human Germ Cells. Ed: RH Martin).
Cytogenetics and Genome Research 111: 237-244.
Delhanty JDA.
2006
Complete cytogenetic investigation of oocytes from a young cancer patient with the use
of comparative genomic hybridisation reveals meiotic errors. (2006)
Prenatal Diagnosis 26: 71-76
E Fragouli, D Wells, A Doshi, S Gotts, J C Harper, JDA Delhanty.
What are the issues surrounding preimplantation diagnosis for late-onset disorders?
(Invited Editorial) (2006)
Expert Review of Molecular Diagnostics 6: 5-6.
Joy Delhanty
Increased susceptibility to maternal aneuploidy demonstrated by comparative genomic
hybridization analysis of human MII oocytes and first polar bodies. (2006)
Cytogenet Genome Res 114: 30-38
E Fragouli, D Wells, KM Whalley, JA Mills, MJW Faed, JDA Delhanty
Molecular cytogenetics in obstetric practice. (2006)
The Obstetrician & Gynaecologist 8: 171-176
JDA Delhanty
Fragouli E, Wells D, Thornhill A, Serhal P, Faed MJW, Harper JC, Delhanty JDA.
Comparative genomic hybridisation analysis of human oocytes and polar bodies. (2006)
Hum Reprod 21: 2319-2328.
2007
Kakourou, G, Dhanjal, S, Daphnis, D, Doshi, A, Nuttall, S, Gotts, S, Serhal, P,
Delhanty, J, Harper, JC, and SenGupta, S (2007) Preimplantation genetic diagnosis
for myotonic dystrophy type 1: detection of cross-over between the gene and the linked
marker APOC2. Prenatal Diagnosis, 27(2):111-116
Mantzouratou, A, Mania, A, Fragouli, E, Xanthopoulou, L, Tashkandi S, Fordham K,
Ranieri DM, Doshi A, Nuttall S, Harper JC, Serhal P, Delhanty JDA. (2007)
Variable aneuploidy mechanisms in embryos from couples with poor reproductive
histories undergoing preimplantation genetic screening. Human Reprod 22(7):1844-53.
Fragouli E, Delhanty JD, Wells D. (2007)
Single cell diagnosis using comparative genomic hybridization after preliminary DNA
amplification still needs more tweaking: too many miscalls.
Fertil Steril. 88(1):247-8.
Delhanty JDA (2007)
Mechanisms of aneuploidy induction in oogenesis and early embryogenesis.
Fetal & Maternal Medicine Review 18: 2 85-101.
Dhanjal, S, Kakourou, G, Mamas, T, Saleh, ,N, Doshi, A, Gotts, S, Nuttall, S, Fordham,
K, Serhal, P, Delhanty, J, Harper, JC and SenGupta, S (2007) Preimplantation Genetic
Diagnosis for Retinoblastoma predisposition, British Journal of Ophthalmology,
91(8):1090-1
2008
Daphnis,DD, Fragouli, E, Economou, K, Jerkovic, S, Craft, IL, Delhanty JDA, Harper
JC. (2008) Analysis of the evolution of chromosome abnormalities in human embryos
from day 3 to day 5 using CGH and FISH. Molecular Human Reproduction 14; 117-125.
Kakourou G, Dhanjal S, Mamas T, Gotts S, Doshi A, Fordham K, Serhal P, Ranieri DM,
Delhanty JD, Harper JC, Sengupta SB. Preimplantation genetic diagnosis for myotonic
dystrophy type 1 in the UK. Neuromuscul Disord. 2007 Nov 27; [Epub ahead of print]
PMID: 18053720
2009
Mantzouratou A, Mania A, Apergi M, Laver S, Serhal P, Delhanty J
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos
determined by preimplantation genetic diagnosis for a maternal carrier.
Mol Cytogenet 2009, 2:3 (23 January 2009)
2010
Xanthopoulou L, Mantzouratou, M, Mania M, Cawood S, Doshi A, Ranieri DM,
Delhanty JDA. Male and female meiotic behaviour of an intrachromosomal insertion
determined by preimplantation genetic diagnosis
Molecular Cytogenetics : 3:2 (2010).
Hultén MA, Smith E, Delhanty JDA: Errors in chromosome segregation during
oogenesis and early embryogenesis.
In: Reproductive Endocrinology and Infertility: Integrating Modern
Clinical and Laboratory Practice. Douglas T Carrell and C. Matthew Peterson (eds),
Springer Publishing (2010).
Speyer BE, Pizzey AR, Ranieri M, Joshi R, Delhanty JDA, Serhal P: Fall in implantation
rates following ICSI with sperm with high DNA fragmentation rates.
Hum Reprod 25: 1609-1618 (2010).
Fragouli E, Bianchi V, Patrizio P, Obradors A, Huang Z, Borini A, Delhanty JDA, Wells
D: Transcriptomic profiling of human oocytes: association of meiotic aneuploidy and
altered gene expression. Mol. Hum. Reprod. 16: 570-582 (2010).
Kakourou G, Dhanjal S, Mamas T, Serhal P, Delhanty JDA, SenGupta SB: Modification
of the triplet repeat primed polymerase chain reaction method for detection of the CTG
repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic
diagnosis. Fertil Steril 94: 1674-1679 (2010).
Delhanty, Joy DA (November 2010) Origins of Human Aneuploidy. In: ENCYCLOPEDIA
OF LIFE SCIENCES 2010, John Wiley & Sons, Ltd: Chichester http://www.els.net/ [DOI:
10.1002/9780470015902.a0021444]
2011
L. Xanthopoulou, J.D.A. Delhanty, A. Mania, T. Mamas, P. Serhal, S.B. SenGupta and
A. Mantzouratou. The nature and origin of binucleate cells in human preimplantation
embryos: relevance to placental mesenchymal dysplasia. Reproductive Biomedicine
online. 22: 362-370 (2011).
Mantzouratou M, Delhanty JDA. Aneuploidy in the human cleavage stage embryo.
Cytogenet Genome Res 133: 141-148 (2011).
Delhanty JDA. Inherited Aneuploidy: Germline mosaicism. Cytogenet Genome Res
133:136-140 (2011).
Fragouli E, Wells D, Delhanty JDA. Chromosome abnormalities in the human oocyte.
Cytogenet Genome Res 133:107-118 (2011).
Xanthopoulou L, Mantzouratou A, Mania A, Ghevaria H, Ghebo C, Serhal P, Delhanty
JDA. When is old too old for preimplantation genetic diagnosis for reciprocal
translocations? Prenat. Diagn. In Press (2011).
Delhanty JDA. Is the polar body approach best for preimplantation genetic screening?
Placenta 32 S268-S270 (2011) Online 25.07.11
Chapters
Preimplantation Genetic Diagnosis
JC Harper & JDA Delhanty
Current Opinion in Obstetrics and Gynecology (2000), 12: 67-72
Preimplantation Genetic Diagnosis
Joy DA Delhanty & Joyce C Harper
In: Diagnosis of Genetic Defects in the Fetus, Rodeck, CH, Ed.
Ballière’s Best Practice & Research in Clinical Obstetrics and Gynaecology. Ballière
Tindall, London, (2000)
Clinical aspects of preimplantation genetic diagnosis
JC Harper & JDA Delhanty
In: Good Clinical Practice in Assisted Reproduction Eds: PS Serhal and C Overton
Cambridge University Press (2004)
Human Cytogenetics.
JDA Delhanty
In: Embryos, Genes and Birth Defects. Eds: P. Ferretti. A. Copp, C.Tickle, G. Moore
John Wiley & Sons Ltd. Second Edition 2006.
Cytogenetics of Human preimplantation embryos
JDA Delhanty & D Wells
In: Cytogenetics in Reproductive Medicine Ed. Dagan Wells
Eurekah.com (2006)
Genetic basis of inherited disease
Joep Geraedts & JDA Delhanty
In: Preimplantation Genetic Diagnosis 2nd Edition. Ed JC Harper
Cambridge University Press, Cambridge UK, May 2009
Preimplantation Genetics
JDA Delhanty & D Wells
In: Preimplantation Genetic Diagnosis 2nd Edition. Ed JC Harper
Cambridge University Press, Cambridge UK, May 2009
Hultén MA, Smith E, Delhanty JDA: Errors in chromosome segregation during
oogenesis and early embryogenesis.
In: Reproductive Endocrinology and Infertility: Integrating Modern Clinical and
Laboratory Practice
Douglas T Carrell and C. Matthew Peterson (eds), Springer Publishing (2010)
Delhanty, Joy DA (November 2010) Origins of Human Aneuploidy. In: ENCYCLOPEDIA
OF LIFE SCIENCES 2010, John Wiley & Sons, Ltd: Chichester http://www.els.net/ [DOI:
10.1002/9780470015902.a0021444]