A R Thornhill
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Explore the profile of A R Thornhill including associated specialties, affiliations and a list of published articles.
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14
Citations
346
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Recent Articles
1.
Ioannou D, Fonseka K, Meershoek E, Thornhill A, Abogrein A, Ellis M, et al.
Chromosome Res
. 2012 Jun;
20(4):447-60.
PMID: 22744221
Fluorescence in situ hybridisation (FISH) was first applied on in vitro fertilisation (IVF) embryos for the preimplantation genetic diagnosis of sex, then chromosome translocations and later for chromosome copy number...
2.
Ioannou D, Meershoek E, Thornhill A, Ellis M, Griffin D
Mol Cell Probes
. 2011 Sep;
25(5-6):199-205.
PMID: 21878387
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics. Following single colour experiments,...
3.
Gabriel A, Thornhill A, Ottolini C, Gordon A, Brown A, Taylor J, et al.
J Med Genet
. 2011 May;
48(7):433-7.
PMID: 21617258
Introduction: Aneuploidy (the presence of extra or missing chromosomes) arises primarily through chromosome segregation errors in the oocyte at meiosis I but the details of mechanism by which such errors...
4.
Finch K, Fonseka K, Abogrein A, Ioannou D, Handyside A, Thornhill A, et al.
Hum Reprod
. 2008 Apr;
23(6):1263-70.
PMID: 18417496
Background: Many genetic defects with a chromosomal basis affect male reproduction via a range of different mechanisms. Chromosome position is a well-known marker of nuclear organization, and alterations in standard...
5.
Wells D, Bermudez M, Steuerwald N, Thornhill A, Walker D, Malter H, et al.
Hum Reprod
. 2005 Feb;
20(5):1339-48.
PMID: 15705620
Background: Appropriate gene expression is vital for the regulation of developmental processes. Despite this fact there is a remarkable paucity of information concerning gene activity during preimplantation development. Methods: We...
6.
Thornhill A, deDie-Smulders C, Geraedts J, Harper J, Harton G, Lavery S, et al.
Hum Reprod
. 2004 Nov;
20(1):35-48.
PMID: 15539444
Among the many educational materials produced by the European Society of Human Reproduction and Embryology (ESHRE) are guidelines. ESHRE guidelines may be developed for many reasons but their intent is...
7.
Kovtun I, Thornhill A, McMurray C
Hum Mol Genet
. 2004 Oct;
13(24):3057-68.
PMID: 15496421
Alterations in trinucleotide repeat length during transmission are important in the pathophysiology of Huntington's disease (HD). However, it is not well understood where, when and by what mechanism expansion occurs....
8.
Thornhill A, Guenther A, Barbarotto G, Session D, Damario M, Dumesic D, et al.
Int J Androl
. 2002 Oct;
25(6):352-7.
PMID: 12406367
The pathogenic relationship between the presence of Y chromosomal microdeletions and male infertility is unclear. Nevertheless, a causal relationship is thought to be probable when loci are shown to be...
9.
Thornhill A, McGrath J, Eady R, Braude P, Handyside A
Prenat Diagn
. 2001 Jul;
21(6):490-7.
PMID: 11438956
Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles,...
10.
Dumesic D, Damario M, Session D, Famuyide A, Lesnick T, Thornhill A, et al.
J Clin Endocrinol Metab
. 2001 Jun;
86(6):2538-43.
PMID: 11397852
Twenty-five normal ovulatory women underwent three-dimensional transvaginal ultrasonography and blood sampling before and after oral glucose tolerance testing to compare ovarian morphology and circulating hormone levels in the early follicular...